Condition Lookup
Speciality:
Diabetes and Endocrinology
Number of Conditions: 89
Polycystic Ovary Syndrome (PCOS)
Specialty: Diabetes and Endocrinology
Category: Reproductive Endocrinology
Sub-category: Female Disorders
Symptoms:
irregular menstrual cycles; excessive hair growth (hirsutism); acne; weight gain; thinning hair or hair loss; infertility; darkened skin patches (acanthosis nigricans)
Root Cause:
Hormonal imbalance characterized by excess androgen production and ovulatory dysfunction; linked to insulin resistance.
How it's Diagnosed: videos
Clinical history, physical examination, blood tests (e.g., testosterone, luteinizing hormone (LH), follicle-stimulating hormone (FSH), fasting insulin), pelvic ultrasound to detect ovarian cysts.
Treatment:
Lifestyle modifications (diet and exercise), hormonal birth control to regulate cycles, fertility treatments if conception is desired, and management of metabolic symptoms.
Medications:
Oral contraceptives (estrogen-progestin combinations), anti-androgens like spironolactone to reduce excessive hair growth, metformin (a biguanide) to improve insulin sensitivity, and clomiphene citrate or letrozole (ovulation inducers) for fertility.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 10% of women of reproductive age globally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of PCOS or diabetes, obesity, sedentary lifestyle.
Prognosis:
The expected outcome or course of the condition over time.
Lifelong management of symptoms; improves with treatment and lifestyle changes. Fertility can often be restored with appropriate interventions.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Infertility, type 2 diabetes, metabolic syndrome, cardiovascular disease, endometrial cancer.
Diabetic Ketoacidosis (DKA)
Specialty: Diabetes and Endocrinology
Category: Diabetes Mellitus and Related Disorders
Sub-category: Acute Complications
Symptoms:
excessive thirst; frequent urination; nausea; vomiting; abdominal pain; shortness of breath; fruity-smelling breath; confusion
Root Cause:
Insulin deficiency leads to uncontrolled hyperglycemia, lipolysis, and ketone production, causing metabolic acidosis.
How it's Diagnosed: videos
Blood tests showing high blood glucose, ketonemia, low bicarbonate, and arterial blood pH < 7.3; urine tests for ketones.
Treatment:
Intravenous fluids, insulin therapy, electrolyte replacement (potassium), and treating underlying causes (e.g., infection).
Medications:
Regular insulin administered intravenously to reduce blood glucose and ketone levels.
Prevalence:
How common the health condition is within a specific population.
Common in individuals with type 1 diabetes; can occur in type 2 diabetes during severe stress.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Poor diabetes management, infection, trauma, surgery, or missed insulin doses.
Prognosis:
The expected outcome or course of the condition over time.
Early treatment leads to recovery; delayed treatment may result in coma or death.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Cerebral edema, hypokalemia, arrhythmias, and death.
Hypercholesterolemia
Specialty: Diabetes and Endocrinology
Category: Metabolic Disorders
Sub-category: Dyslipidemia
Symptoms:
often asymptomatic; in severe cases, symptoms include xanthomas, xanthelasma (yellow deposits around the eyes), and corneal arcus.
Root Cause:
Elevated levels of low-density lipoprotein (LDL) cholesterol due to genetic or lifestyle factors, leading to an increased risk of atherosclerosis.
How it's Diagnosed: videos
Blood tests measuring LDL, HDL, total cholesterol, and triglycerides; clinical evaluation and family history.
Treatment:
Lifestyle modifications (diet, exercise, weight management), and medications to lower LDL cholesterol.
Medications:
Statins (e.g., atorvastatin , simvastatin ) are the first-line treatment to lower LDL cholesterol. Other options include bile acid sequestrants (e.g., cholestyramine ), cholesterol absorption inhibitors (e.g., ezetimibe ), and PCSK9 inhibitors (e.g., alirocumab ). Niacin and fibrates may be used in specific cases.
Prevalence:
How common the health condition is within a specific population.
Approximately 12% of adults in the U.S. have elevated LDL cholesterol.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Poor diet (high in saturated and trans fats), obesity, sedentary lifestyle, smoking, excessive alcohol consumption, genetic predisposition (e.g., familial hypercholesterolemia).
Prognosis:
The expected outcome or course of the condition over time.
Treatable with lifestyle changes and medications; untreated, it significantly increases the risk of cardiovascular disease, including heart attack and stroke.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Atherosclerosis, coronary artery disease, peripheral artery disease, and increased risk of myocardial infarction and stroke.
Hypertriglyceridemia
Specialty: Diabetes and Endocrinology
Category: Metabolic Disorders
Sub-category: Dyslipidemia
Symptoms:
often asymptomatic; severe cases may present with eruptive xanthomas, lipemia retinalis, or pancreatitis.
Root Cause:
Elevated triglyceride levels in the blood, often due to lifestyle factors, obesity, diabetes, or genetic disorders.
How it's Diagnosed: videos
Blood tests measuring fasting triglycerides; additional tests to identify secondary causes or genetic predispositions.
Treatment:
Lifestyle changes (low-fat, low-sugar diet, regular exercise, weight loss, avoiding alcohol) and triglyceride-lowering medications.
Medications:
Fibrates (e.g., fenofibrate , gemfibrozil ) are the primary treatment. Omega-3 fatty acids (e.g., prescription-strength EPA/DHA) and niacin can also lower triglycerides . Statins may be used when LDL is elevated.
Prevalence:
How common the health condition is within a specific population.
Approximately 25% of adults in the U.S. have elevated triglycerides.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Obesity, diabetes, metabolic syndrome, excessive alcohol intake, high-carbohydrate diet, certain medications (e.g., corticosteroids).
Prognosis:
The expected outcome or course of the condition over time.
Treatable with lifestyle changes and medications; untreated, severe hypertriglyceridemia can lead to pancreatitis and cardiovascular complications.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Acute pancreatitis, cardiovascular disease, and metabolic syndrome.
Mixed Hyperlipidemia
Specialty: Diabetes and Endocrinology
Category: Metabolic Disorders
Sub-category: Dyslipidemia
Symptoms:
usually asymptomatic; may present with xanthomas or cardiovascular events if untreated.
Root Cause:
Concurrent elevation of LDL cholesterol, triglycerides, and often low HDL cholesterol; typically caused by genetic factors or metabolic disorders.
How it's Diagnosed: videos
Blood lipid panel showing elevated LDL, triglycerides, and low HDL; clinical history and genetic testing may be needed.
Treatment:
Combination of lifestyle changes and medications targeting both LDL and triglycerides.
Medications:
Statins (e.g., atorvastatin , rosuvastatin ) are often combined with fibrates (e.g., fenofibrate ) or omega-3 fatty acids. Ezetimibe and PCSK9 inhibitors may be considered in severe cases.
Prevalence:
How common the health condition is within a specific population.
Mixed hyperlipidemia affects 1%-5% of the population and is often associated with metabolic syndrome.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of dyslipidemia, obesity, diabetes, sedentary lifestyle, high-fat diet.
Prognosis:
The expected outcome or course of the condition over time.
Treatable but requires consistent management to reduce cardiovascular risk; progression to cardiovascular disease if untreated.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Atherosclerosis, coronary artery disease, stroke, and pancreatitis.
Autoimmune destruction of pancreatic beta cells (Type 1 Diabetes)
Specialty: Diabetes and Endocrinology
Category: Diabetes Mellitus and Related Disorders
Sub-category: Type 1 Diabetes Mellitus
Symptoms:
frequent urination (polyuria); excessive thirst (polydipsia); unintended weight loss; fatigue; blurred vision; slow wound healing; recurrent infections
Root Cause:
The immune system attacks and destroys insulin-producing beta cells in the pancreas, leading to a lack of insulin production and resul.ting in hyperglycemia.
How it's Diagnosed: videos
Diagnosed by hyperglycemia, autoantibodies (e.g., GAD, ICA), and low C-peptide levels.
Treatment:
Treated with insulin therapy and blood glucose monitoring.
Medications:
Insulin is the primary treatment, including long-acting (e.g., glargine , detemir ) and short-acting (e.g., lispro, aspart) insulin analogs. These are classified as hormone replacement therapies.
Prevalence:
How common the health condition is within a specific population.
Accounts for approximately 5–10% of all diabetes cases; often diagnosed in childhood but can occur at any age.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of type 1 diabetes, presence of other autoimmune conditions, certain genetic markers (e.g., HLA-DR3, HLA-DR4), and environmental triggers (e.g., viral infections).
Prognosis:
The expected outcome or course of the condition over time.
Lifelong management with insulin therapy is required. With proper treatment, individuals can lead normal, healthy lives, although there is an increased risk of complications if poorly managed.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Diabetic ketoacidosis (DKA), chronic complications like retinopathy, nephropathy, neuropathy, and an increased risk of cardiovascular disease.
Latent Autoimmune Diabetes in Adults (LADA)
Specialty: Diabetes and Endocrinology
Category: Diabetes Mellitus and Related Disorders
Sub-category: Type 2 Diabetes Mellitus
Symptoms:
gradual onset of hyperglycemia; excessive thirst (polydipsia); frequent urination (polyuria); fatigue; blurred vision; weight loss
Root Cause:
A slow-progressing autoimmune destruction of pancreatic beta cells, resulting in reduced insulin production. Often misdiagnosed as type 2 diabetes due to its slower progression.
How it's Diagnosed: videos
Diagnosed through positive islet autoantibodies and gradual insulin dependence.
Treatment:
Treated initially with oral antidiabetics (e.g., metformin) and progression to insulin therapy as beta-cell function declines.
Medications:
Initially, oral medications such as metformin or sulfonylureas may be used. Insulin therapy becomes necessary as the disease progresses. Insulin is classified as a hormone replacement therapy.
Prevalence:
How common the health condition is within a specific population.
Accounts for approximately 5–10% of all diabetes cases; more common in adults over 30 but often underdiagnosed.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of autoimmune conditions, genetic predisposition (e.g., certain HLA genes), and environmental factors.
Prognosis:
The expected outcome or course of the condition over time.
With early diagnosis and treatment, blood sugar levels can be effectively managed. Delayed diagnosis may increase the risk of complications.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Similar to type 1 diabetes, including an increased risk of retinopathy, nephropathy, neuropathy, and cardiovascular complications.
Insulin Resistance and Relative Insulin Deficiency
Specialty: Diabetes and Endocrinology
Category: Diabetes Mellitus and Related Disorders
Sub-category: Type 2 Diabetes Mellitus
Symptoms:
increased hunger (polyphagia); frequent urination (polyuria); excessive thirst (polydipsia); fatigue; blurred vision; slow-healing wounds; darkened skin patches (acanthosis nigricans)
Root Cause:
Impaired cellular response to insulin leads to reduced glucose uptake, causing the pancreas to overproduce insulin to compensate. This contributes to beta-cell dysfunction and relative insulin deficiency over time.
How it's Diagnosed: videos
Blood tests such as fasting glucose levels, HbA1c (glycated hemoglobin), oral glucose tolerance test (OGTT), and insulin levels; physical exam identifying symptoms like acanthosis nigricans.
Treatment:
Lifestyle interventions (diet, exercise), weight management, medications to improve insulin sensitivity or lower blood glucose, and in some cases, insulin therapy.
Medications:
Metformin
Prevalence:
How common the health condition is within a specific population.
Insulin resistance is a hallmark of prediabetes and Type 2 diabetes, affecting up to 39% of the global adult population, with higher rates in obese and sedentary individuals.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Obesity, sedentary lifestyle, family history of diabetes, polycystic ovary syndrome (PCOS), age over 45, and certain ethnicities (e.g., African American, Hispanic, Asian).
Prognosis:
The expected outcome or course of the condition over time.
With proper management, progression to diabetes can be delayed or prevented. Uncontrolled, it leads to chronic hyperglycemia and complications such as cardiovascular disease and neuropathy.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Increased risk of Type 2 diabetes, cardiovascular disease, fatty liver disease, kidney damage, and nerve damage (neuropathy).
Diabetes during pregnancy
Specialty: Diabetes and Endocrinology
Category: Diabetes Mellitus and Related Disorders
Sub-category: Gestational Diabetes Mellitus (GDM)
Symptoms:
increased thirst; frequent urination; fatigue; blurred vision; unexplained weight changes; nausea; slow-healing infections
Root Cause:
Insulin resistance due to hormonal changes during pregnancy, combined with an inability of the pancreas to produce sufficient insulin to maintain normal glucose levels.
How it's Diagnosed: videos
Diagnosis is through glucose screening tests such as the oral glucose tolerance test (OGTT) conducted during the second trimester (usually between 24 and 28 weeks of pregnancy).
Treatment:
Management involves dietary modifications, regular physical activity, blood glucose monitoring, and, if needed, medications to regulate blood sugar levels.
Medications:
Insulin therapy is the primary treatment if blood sugar cannot be controlled through lifestyle changes. Additionally, oral medications such as metformin (a biguanide that improves insulin sensitivity) or glyburide (a sulfonylurea that increases insulin secretion) may be prescribed in some cases.
Prevalence:
How common the health condition is within a specific population.
Gestational diabetes affects approximately 6-9% of pregnancies globally, with higher rates in certain populations.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of diabetes; overweight or obesity; advanced maternal age; previous history of gestational diabetes; ethnic predisposition (e.g., South Asian, African-American, Hispanic); polycystic ovary syndrome (PCOS)
Prognosis:
The expected outcome or course of the condition over time.
Most women with gestational diabetes return to normal glucose levels after delivery. However, they remain at higher risk of developing type 2 diabetes in the future.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Macrosomia (large baby size); increased risk of cesarean delivery; neonatal hypoglycemia; respiratory distress syndrome in newborn; increased risk of preeclampsia for the mother; future metabolic disorders in both mother and child
Neonatal Diabetes
Specialty: Diabetes and Endocrinology
Category: Diabetes Mellitus and Related Disorders
Sub-category: Other Specific Types of Diabetes
Symptoms:
failure to thrive; dehydration; severe hyperglycemia; frequent urination; weight loss in newborns
Root Cause:
Genetic mutations affecting insulin production or secretion, typically presenting in the first six months of life.
How it's Diagnosed: videos
Genetic testing for mutations in genes like KCNJ11 or ABCC8; fasting glucose levels, C-peptide levels, and ketones.
Treatment:
Sulfonylureas in cases of ATP-sensitive potassium channel mutations, or insulin therapy if necessary.
Medications:
Sulfonylureas (e.g., glibenclamide) are commonly used; in some cases, insulin therapy is required to manage blood sugar levels.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 90,000 to 160,000 live births worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Genetic mutations, consanguinity, and family history of early-onset diabetes.
Prognosis:
The expected outcome or course of the condition over time.
Varies depending on the mutation; many children achieve good control with oral medications, though some require lifelong insulin therapy.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Growth and developmental delays, diabetic ketoacidosis (DKA), and long-term microvascular or macrovascular complications.
Secondary Diabetes
Specialty: Diabetes and Endocrinology
Category: Diabetes Mellitus and Related Disorders
Sub-category: Other Specific Types of Diabetes
Symptoms:
hyperglycemia; frequent urination; excessive thirst; weight loss; symptoms related to the underlying condition (e.g., cushing’s syndrome or acromegaly)
Root Cause:
Insulin resistance or deficiency caused by an underlying medical condition (e.g., Cushing's syndrome, acromegaly) or medications (e.g., glucocorticoids).
How it's Diagnosed: videos
Blood glucose levels, HbA1c testing, OGTT, and assessment for underlying conditions via imaging or hormonal studies.
Treatment:
Managing the underlying condition, lifestyle changes, and glucose-lowering medications (e.g., metformin, insulin).
Medications:
Insulin for glycemic control; metformin to improve insulin sensitivity; glucocorticoid antagonists if due to steroid therapy.
Prevalence:
How common the health condition is within a specific population.
Varies widely depending on the prevalence of underlying conditions (e.g., 2-4% of people on long-term steroid therapy develop secondary diabetes).
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Long-term glucocorticoid therapy, tumors affecting hormone production, genetic predisposition to insulin resistance.
Prognosis:
The expected outcome or course of the condition over time.
Good with treatment of the underlying condition and proper glycemic control; outcomes depend on the severity of the primary disease.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Microvascular and macrovascular complications if glycemic control is not achieved, complications related to the primary condition.
Pancreatic Diabetes (Type 3c Diabetes)
Specialty: Diabetes and Endocrinology
Category: Diabetes Mellitus and Related Disorders
Sub-category: Other Specific Types of Diabetes
Symptoms:
chronic hyperglycemia; digestive issues (e.g., steatorrhea); weight loss; frequent urination; excessive thirst
Root Cause:
Damage to the pancreas due to chronic conditions like pancreatitis, cystic fibrosis, or pancreatic surgery, impairing insulin and digestive enzyme production.
How it's Diagnosed: videos
Fasting glucose, HbA1c, C-peptide levels, imaging of the pancreas (e.g., CT or MRI), and fecal elastase for exocrine insufficiency.
Treatment:
Insulin therapy for hyperglycemia, pancreatic enzyme replacement therapy (PERT) for digestive insufficiency, and dietary modifications.
Medications:
Insulin (short-acting and basal types) for glucose control; pancreatic enzyme replacements (e.g., pancrelipase ) for digestion.
Prevalence:
How common the health condition is within a specific population.
Estimated in 5-10% of diabetes cases; underdiagnosed.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Chronic pancreatitis, cystic fibrosis, hemochromatosis, pancreatic surgery, or trauma.
Prognosis:
The expected outcome or course of the condition over time.
Challenging to manage; requires coordinated care for endocrine and exocrine dysfunctions.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Severe hypoglycemia, malnutrition due to digestive enzyme deficiencies, and long-term complications of poorly controlled diabetes (e.g., retinopathy, nephropathy).
Diabetic Neuropathy (Peripheral)
Specialty: Diabetes and Endocrinology
Category: Diabetes Mellitus and Related Disorders
Sub-category: Diabetes-Related Complications
Symptoms:
numbness; tingling; burning pain; loss of sensation; weakness in the feet and hands
Root Cause:
Chronic high blood sugar damages peripheral and autonomic nerves by disrupting blood supply and oxidative stress mechanisms.
How it's Diagnosed: videos
Clinical examination, nerve conduction studies, electromyography (EMG), and tests for autonomic function (e.g., heart rate variability).
Treatment:
Blood sugar control, pain management, and supportive therapies for specific symptoms.
Medications:
For pain relief - pregabalin (anticonvulsant), duloxetine (SNRI), or gabapentin (anticonvulsant). For gastroparesis - metoclopramide (prokinetic agent). For autonomic symptoms - midodrine for orthostatic hypotension; bethanechol for urinary retention.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 50% of individuals with diabetes.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Long duration of diabetes, poor glycemic control, obesity, smoking, and hypertension.
Prognosis:
The expected outcome or course of the condition over time.
Symptoms may improve with tight glycemic control, but nerve damage is often irreversible.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Foot ulcers, infections, amputations, cardiovascular complications, and reduced quality of life.
Diabetic Neuropathy (Autonomic)
Specialty: Diabetes and Endocrinology
Category: Diabetes Mellitus and Related Disorders
Sub-category: Diabetes-Related Complications
Symptoms:
gastroparesis; urinary incontinence; erectile dysfunction; dizziness upon standing; sweating abnormalities
Root Cause:
Chronic high blood sugar damages peripheral and autonomic nerves by disrupting blood supply and oxidative stress mechanisms.
How it's Diagnosed: videos
Clinical examination, nerve conduction studies, electromyography (EMG), and tests for autonomic function (e.g., heart rate variability).
Treatment:
Blood sugar control, pain management, and supportive therapies for specific symptoms.
Medications:
For pain relief - pregabalin (anticonvulsant), duloxetine (SNRI), or gabapentin (anticonvulsant). For gastroparesis - metoclopramide (prokinetic agent). For autonomic symptoms - midodrine for orthostatic hypotension; bethanechol for urinary retention.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 50% of individuals with diabetes.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Long duration of diabetes, poor glycemic control, obesity, smoking, and hypertension.
Prognosis:
The expected outcome or course of the condition over time.
Symptoms may improve with tight glycemic control, but nerve damage is often irreversible.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Foot ulcers, infections, amputations, cardiovascular complications, and reduced quality of life.
Diabetic Foot Ulcers
Specialty: Diabetes and Endocrinology
Category: Diabetes Mellitus and Related Disorders
Sub-category: Diabetes-Related Complications
Symptoms:
non-healing open sores on the feet; pain; swelling; redness; drainage or pus from the ulcer; foul odor
Root Cause:
Peripheral neuropathy and poor blood circulation impair wound healing and increase susceptibility to infection.
How it's Diagnosed: videos
Physical examination, wound culture for infections, imaging studies (e.g., X-ray, MRI) to rule out osteomyelitis.
Treatment:
Wound care, debridement, offloading (e.g., specialized footwear), infection management, and revascularization if needed.
Medications:
Antibiotics (e.g., amoxicillin-clavulanate, clindamycin ) for infected ulcers.
Prevalence:
How common the health condition is within a specific population.
Occurs in approximately 15% of individuals with diabetes during their lifetime.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Peripheral neuropathy, poor glycemic control, peripheral artery disease, smoking, foot deformities, and poor foot care.
Prognosis:
The expected outcome or course of the condition over time.
Healing depends on early intervention; untreated ulcers may lead to infections or amputation.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Osteomyelitis, gangrene, sepsis, and lower limb amputation.
Charcot Foot
Specialty: Diabetes and Endocrinology
Category: Diabetes Mellitus and Related Disorders
Sub-category: Diabetes-Related Complications
Symptoms:
swelling in the foot; warmth; redness; loss of sensation; foot deformity
Root Cause:
Repetitive trauma to the bones and joints due to neuropathy, leading to fractures, dislocations, and progressive foot deformity.
How it's Diagnosed: videos
Physical examination, X-rays, MRI, and bone scans to assess structural damage.
Treatment:
Immobilization with a total contact cast, offloading, surgical intervention in severe cases.
Medications:
Pain management with non-opioid analgesics (e.g., acetaminophen or NSAIDs) during acute phases.
Prevalence:
How common the health condition is within a specific population.
Rare; occurs in less than 1% of individuals with diabetes, more common in those with advanced neuropathy.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Advanced diabetic neuropathy, trauma, and poor glycemic control.
Prognosis:
The expected outcome or course of the condition over time.
Early treatment can prevent severe deformities; untreated cases may lead to permanent disability.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Severe foot deformities, ulcers, infections, and amputation.
Hyperosmolar Hyperglycemic State (HHS)
Specialty: Diabetes and Endocrinology
Category: Diabetes Mellitus and Related Disorders
Sub-category: Acute Complications
Symptoms:
extreme thirst; frequent urination; dry mouth; weakness; confusion; seizures; coma
Root Cause:
Severe hyperglycemia leads to osmotic diuresis and dehydration without significant ketone production.
How it's Diagnosed: videos
Blood tests showing extremely high blood glucose (>600 mg/dL), high plasma osmolality, and absence or low levels of ketones.
Treatment:
Intravenous fluids, insulin therapy, and electrolyte replacement.
Medications:
Regular insulin administered intravenously to control blood glucose levels.
Prevalence:
How common the health condition is within a specific population.
Rare; primarily occurs in elderly individuals with type 2 diabetes.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Dehydration, infections, poorly controlled diabetes, or medications (e.g., steroids).
Prognosis:
The expected outcome or course of the condition over time.
High mortality rate if untreated; early intervention improves outcomes.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Severe dehydration, shock, thromboembolism, and death.
Hypoglycemia (due to diabetes management)
Specialty: Diabetes and Endocrinology
Category: Diabetes Mellitus and Related Disorders
Sub-category: Acute Complications
Symptoms:
sweating; shakiness; dizziness; hunger; confusion; irritability; seizures; loss of consciousness
Root Cause:
Excess insulin or glucose-lowering medications reduce blood sugar levels below normal (<70 mg/dL).
How it's Diagnosed: videos
Blood glucose measurement; symptoms resolve with glucose administration.
Treatment:
Immediate consumption of fast-acting carbohydrates (e.g., glucose tablets, fruit juice); glucagon injection for severe cases.
Medications:
Glucagon injection or glucose gel for emergency treatment of severe hypoglycemia.
Prevalence:
How common the health condition is within a specific population.
Common in individuals on insulin or sulfonylureas; varies by treatment regimen.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Excess insulin, skipping meals, intense physical activity, or alcohol consumption.
Prognosis:
The expected outcome or course of the condition over time.
Good with prompt treatment; repeated episodes can impair awareness and cognitive function.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Seizures, coma, accidents, and death.
Primary Hypothyroidism (e.g., Hashimoto's Thyroiditis)
Specialty: Diabetes and Endocrinology
Category: Thyroid Disorders
Sub-category: Hypothyroidism
Symptoms:
fatigue; weight gain; cold intolerance; dry skin; hair thinning; constipation; depression; hoarseness; puffy face; bradycardia; muscle weakness; joint pain or stiffness
Root Cause:
Autoimmune destruction of the thyroid gland leads to decreased production of thyroid hormones (T3 and T4), resulting in high TSH levels.
How it's Diagnosed: videos
Blood tests measuring TSH (elevated), free T4 (low), anti-thyroid peroxidase (anti-TPO) antibodies, and anti-thyroglobulin antibodies.
Treatment:
Hormone replacement therapy with levothyroxine; monitoring of TSH and T4 levels to ensure appropriate dosage.
Medications:
Levothyroxine (synthetic thyroid hormone replacement, T4); Liothyronine (T3, less commonly used for supplementation in specific cases).
Prevalence:
How common the health condition is within a specific population.
Affects approximately 4-10% of the global population, with a higher prevalence in women and older adults.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of thyroid disorders, female sex, age >50 years, iodine deficiency or excess, other autoimmune disorders (e.g., type 1 diabetes, rheumatoid arthritis).
Prognosis:
The expected outcome or course of the condition over time.
Excellent with proper treatment; symptoms improve significantly with levothyroxine therapy, though lifelong medication may be required.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Myxedema (severe hypothyroidism, life-threatening if untreated), infertility, cardiovascular issues (e.g., hyperlipidemia), goiter, and cognitive impairment.
Secondary (Central) Hypothyroidism
Specialty: Diabetes and Endocrinology
Category: Thyroid Disorders
Sub-category: Hypothyroidism
Symptoms:
fatigue; weight gain; cold intolerance; dry skin; hair thinning; constipation; depression; hoarseness; puffy face; muscle weakness
Root Cause:
Insufficient stimulation of the thyroid gland due to pituitary or hypothalamic dysfunction leading to inadequate TSH secretion.
How it's Diagnosed: videos
Blood tests showing low TSH and low free T4; MRI to evaluate the pituitary or hypothalamus for tumors or structural abnormalities.
Treatment:
Hormone replacement therapy with levothyroxine; address the underlying cause, such as pituitary adenomas or structural damage.
Medications:
Levothyroxine (synthetic T4 replacement).
Prevalence:
How common the health condition is within a specific population.
Rare, accounting for less than 5% of all hypothyroidism cases.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Pituitary tumors, traumatic brain injury, hypothalamic diseases, radiation therapy to the head, or previous pituitary surgery.
Prognosis:
The expected outcome or course of the condition over time.
Good with appropriate treatment; prognosis depends on addressing the underlying cause of pituitary dysfunction.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Delayed diagnosis may lead to severe hypothyroidism or myxedema, visual impairment (if caused by pituitary adenomas), and hormonal imbalances.
Congenital Hypothyroidism
Specialty: Diabetes and Endocrinology
Category: Thyroid Disorders
Sub-category: Hypothyroidism
Symptoms:
prolonged jaundice; poor feeding; constipation; hypotonia; large tongue; puffy face; hoarse cry; delayed growth; intellectual disability if untreated
Root Cause:
Absent, underdeveloped, or dysfunctional thyroid gland at birth resulting in insufficient thyroid hormone production.
How it's Diagnosed: videos
Newborn screening programs measure TSH and T4 levels; confirmatory testing includes thyroid ultrasound or scintigraphy.
Treatment:
Immediate initiation of levothyroxine therapy to normalize thyroid hormone levels and prevent developmental delays.
Medications:
Levothyroxine (synthetic T4 replacement).
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 2,000–4,000 live births worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of thyroid disorders, iodine deficiency during pregnancy, maternal autoimmune thyroid disease.
Prognosis:
The expected outcome or course of the condition over time.
Excellent with early detection and treatment; normal growth and development are achievable if treated within the first few weeks of life.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
If untreated, intellectual disability, delayed physical growth, and severe hypothyroidism may occur.
Graves' Disease
Specialty: Diabetes and Endocrinology
Category: Thyroid Disorders
Sub-category: Hyperthyroidism
Symptoms:
unintentional weight loss; rapid heartbeat (tachycardia); nervousness or irritability; sweating; tremors; heat intolerance; enlarged thyroid gland (goiter); protruding eyes (exophthalmos); fatigue; muscle weakness
Root Cause:
Autoimmune disorder where the immune system produces antibodies (TSI) that stimulate the thyroid gland to overproduce thyroid hormones.
How it's Diagnosed: videos
Based on clinical symptoms, blood tests measuring thyroid hormones (T3, T4), TSH levels, and thyroid-stimulating immunoglobulin (TSI); thyroid uptake scan.
Treatment:
Antithyroid medications, radioactive iodine therapy, or thyroidectomy (surgical removal of the thyroid gland).
Medications:
Antithyroid drugs such as methimazole (thionamide class) or propylthiouracil (PTU). Beta-blockers like propranolol are prescribed to control symptoms like tachycardia and tremors.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1.2% of the U.S. population, with a higher prevalence in women and individuals aged 20–40 years.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Female gender, family history of autoimmune conditions, stress, smoking, and recent pregnancy.
Prognosis:
The expected outcome or course of the condition over time.
With proper treatment, symptoms can be well-controlled. Relapses can occur, and permanent solutions like radioactive iodine or surgery may be needed.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Thyroid storm (life-threatening hyperthyroidism crisis), heart problems (atrial fibrillation, heart failure), brittle bones (osteoporosis), and eye problems (Graves’ ophthalmopathy).
Toxic Multinodular Goiter
Specialty: Diabetes and Endocrinology
Category: Thyroid Disorders
Sub-category: Hyperthyroidism
Symptoms:
enlarged thyroid gland (goiter); palpitations; weight loss; heat intolerance; nervousness; muscle weakness; difficulty breathing or swallowing (due to goiter compression)
Root Cause:
Overactive nodules within the thyroid produce excess thyroid hormones independent of TSH regulation, often due to mutations in TSH receptors.
How it's Diagnosed: videos
Clinical symptoms, thyroid function tests (T3, T4, TSH), ultrasound imaging, and radioactive iodine uptake scan.
Treatment:
Antithyroid medications, radioactive iodine therapy, or surgical thyroidectomy (especially in cases with large goiters causing compressive symptoms).
Medications:
Methimazole or propylthiouracil to reduce hormone production; beta-blockers such as atenolol to manage symptoms.
Prevalence:
How common the health condition is within a specific population.
Common in iodine-deficient regions and typically seen in older adults.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Iodine deficiency, aging, and history of thyroid nodules or goiter.
Prognosis:
The expected outcome or course of the condition over time.
Symptoms can be managed with treatment. Long-term control often requires definitive therapy such as radioactive iodine or surgery.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Heart arrhythmias, bone loss (osteoporosis), and compressive symptoms (tracheal or esophageal compression).
Toxic Adenoma
Specialty: Diabetes and Endocrinology
Category: Thyroid Disorders
Sub-category: Hyperthyroidism
Symptoms:
palpitations; weight loss; tremors; heat intolerance; nervousness; enlarged nodule in the neck; mild difficulty swallowing or breathing in large adenomas
Root Cause:
A single, benign thyroid nodule autonomously secretes excessive thyroid hormones due to somatic mutations in TSH receptors.
How it's Diagnosed: videos
Clinical evaluation, blood tests showing elevated T3 and T4 with suppressed TSH, thyroid ultrasound, and radioactive iodine uptake scan showing focal uptake.
Treatment:
Radioactive iodine therapy to ablate the adenoma or surgical removal of the affected thyroid lobe (lobectomy). Antithyroid drugs may be used temporarily.
Medications:
Methimazole (antithyroid drug) may be used to manage hyperthyroidism symptoms pre-surgery or pre-radioactive iodine therapy. Beta-blockers such as propranolol to control symptoms like tachycardia.
Prevalence:
How common the health condition is within a specific population.
Less common than Graves' Disease; typically occurs in middle-aged adults.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of thyroid nodules, iodine deficiency, and exposure to radiation.
Prognosis:
The expected outcome or course of the condition over time.
Good with appropriate treatment. Definitive therapy like surgery or radioactive iodine typically resolves the condition.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Persistent hyperthyroidism, arrhythmias, or compressive symptoms if the adenoma enlarges significantly.
Subacute (De Quervain’s) Thyroiditis
Specialty: Diabetes and Endocrinology
Category: Thyroid Disorders
Sub-category: Thyroiditis
Symptoms:
painful, tender thyroid gland; fever; fatigue; neck pain radiating to the jaw or ears; temporary hyperthyroid symptoms like palpitations, weight loss, and heat intolerance; later hypothyroid symptoms such as fatigue and cold intolerance
Root Cause:
Inflammation of the thyroid gland, often following a viral upper respiratory infection, leading to the release of stored thyroid hormones.
How it's Diagnosed: videos
Clinical presentation, elevated inflammatory markers (ESR and CRP), abnormal thyroid function tests (initial hyperthyroidism with elevated T3/T4 and suppressed TSH), and reduced radioactive iodine uptake.
Treatment:
Supportive care with nonsteroidal anti-inflammatory drugs (NSAIDs) or corticosteroids for pain and inflammation. Beta-blockers may be used temporarily for hyperthyroid symptoms.
Medications:
NSAIDs like ibuprofen or naproxen to reduce inflammation; corticosteroids (e.g., prednisone ) for severe cases; beta-blockers (e.g., propranolol ) to manage hyperthyroid symptoms.
Prevalence:
How common the health condition is within a specific population.
Rare, more common in women aged 30–50 years.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Recent viral infection, female gender, family history of thyroid disorders.
Prognosis:
The expected outcome or course of the condition over time.
Typically self-limiting, with complete recovery in most cases within 2–3 months. Temporary hypothyroidism may develop but usually resolves.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Persistent hypothyroidism, recurrence of symptoms, or, rarely, permanent thyroid dysfunction.
Postpartum Thyroiditis
Specialty: Diabetes and Endocrinology
Category: Thyroid Disorders
Sub-category: Thyroiditis
Symptoms:
initial hyperthyroidism symptoms such as palpitations, anxiety, heat intolerance, and weight loss; later hypothyroidism symptoms like fatigue, depression, weight gain, and cold intolerance
Root Cause:
Autoimmune-mediated inflammation of the thyroid gland occurring within one year after childbirth, likely triggered by immune system changes during pregnancy.
How it's Diagnosed: videos
Thyroid function tests showing an initial hyperthyroid phase (elevated T3/T4, suppressed TSH) followed by hypothyroidism (low T3/T4, elevated TSH); positive thyroid peroxidase (TPO) antibodies.
Treatment:
Typically no treatment for mild cases; beta-blockers for hyperthyroid symptoms and levothyroxine for hypothyroid symptoms if they are significant or persistent.
Medications:
Beta-blockers like propranolol for temporary symptom control; levothyroxine (thyroid hormone replacement) for hypothyroidism.
Prevalence:
How common the health condition is within a specific population.
Affects 5–10% of postpartum women.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of autoimmune thyroid disease, type 1 diabetes, and previous history of postpartum thyroiditis.
Prognosis:
The expected outcome or course of the condition over time.
Most women recover fully within 12–18 months, but some may develop permanent hypothyroidism.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Permanent hypothyroidism, recurrence in subsequent pregnancies.
Silent Thyroiditis
Specialty: Diabetes and Endocrinology
Category: Thyroid Disorders
Sub-category: Thyroiditis
Symptoms:
mild hyperthyroid symptoms such as palpitations, nervousness, and weight loss; later hypothyroid symptoms like fatigue and cold intolerance
Root Cause:
Autoimmune inflammation of the thyroid gland without pain, leading to a temporary release of thyroid hormones, followed by a hypothyroid phase.
How it's Diagnosed: videos
Thyroid function tests showing hyperthyroidism followed by hypothyroidism; positive thyroid peroxidase (TPO) antibodies.
Treatment:
Typically self-limiting; beta-blockers may be used for hyperthyroid symptoms, and levothyroxine for hypothyroidism if necessary.
Medications:
Beta-blockers like propranolol for hyperthyroidism; levothyroxine for hypothyroidism if prolonged.
Prevalence:
How common the health condition is within a specific population.
Rare, more common in women and individuals with autoimmune conditions.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of autoimmune thyroid disease, recent pregnancy, or pre-existing autoimmune disorders.
Prognosis:
The expected outcome or course of the condition over time.
Generally self-limiting with full recovery in most cases; some may develop permanent hypothyroidism.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Permanent hypothyroidism or recurrence.
Infectious Thyroiditis
Specialty: Diabetes and Endocrinology
Category: Thyroid Disorders
Sub-category: Thyroiditis
Symptoms:
fever; painful, swollen thyroid gland; neck tenderness; difficulty swallowing (dysphagia); symptoms of infection like chills and malaise
Root Cause:
Bacterial or fungal infection of the thyroid gland, typically resulting from hematogenous spread, direct extension from nearby structures, or abscess formation.
How it's Diagnosed: videos
Clinical examination, blood tests showing elevated white blood cells and inflammatory markers (ESR, CRP), thyroid ultrasound, and fine-needle aspiration (FNA) biopsy to confirm infection.
Treatment:
Antibiotics or antifungal medications to treat the underlying infection; drainage of abscess if present.
Medications:
Broad-spectrum antibiotics (e.g., amoxicillin-clavulanate, clindamycin ) or antifungal agents for fungal infections.
Prevalence:
How common the health condition is within a specific population.
Very rare; more common in immunocompromised individuals or those with predisposing factors like trauma or pre-existing thyroid nodules.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Immunosuppression, recent neck trauma or surgery, pre-existing thyroid disease.
Prognosis:
The expected outcome or course of the condition over time.
Good with timely treatment; most recover fully.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Abscess formation, sepsis, or thyroid dysfunction.
Benign Thyroid Nodules
Specialty: Diabetes and Endocrinology
Category: Thyroid Disorders
Sub-category: Thyroid Nodules and Cancers
Symptoms:
lump in the neck; difficulty swallowing; hoarseness; pressure in the neck; asymptomatic in many cases
Root Cause:
Overgrowth of normal thyroid tissue, fluid-filled cysts, or inflammation in the thyroid gland.
How it's Diagnosed: videos
Physical examination, thyroid function tests (TSH, T4, T3), ultrasound imaging, fine-needle aspiration biopsy (FNAB).
Treatment:
Observation, thyroid hormone suppression therapy, minimally invasive procedures (e.g., ethanol ablation), or surgery in symptomatic cases.
Medications:
Thyroid hormone replacement therapy (e.g., levothyroxine ) may be prescribed to suppress TSH levels in some cases, though its efficacy is debated.
Prevalence:
How common the health condition is within a specific population.
Common; approximately 50-60% of adults develop thyroid nodules, but most are benign.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Female sex, increasing age, iodine deficiency, family history of thyroid disease, radiation exposure.
Prognosis:
The expected outcome or course of the condition over time.
Excellent, as benign nodules rarely progress to malignancy.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Large nodules may cause compression symptoms (e.g., difficulty swallowing or breathing); rare transformation into malignancy.
Goiter (Enlarged Thyroid)
Specialty: Diabetes and Endocrinology
Category: Thyroid Disorders
Sub-category: Other Thyroid Disorders
Symptoms:
swelling in the neck; difficulty swallowing or breathing (in severe cases); tightness in the throat; hoarseness; visible lump in the neck; cough
Root Cause:
Enlargement of the thyroid gland due to iodine deficiency, autoimmune conditions (e.g., Hashimoto's thyroiditis, Graves' disease), or nodules.
How it's Diagnosed: videos
Physical examination, thyroid function tests (TSH, T3, T4 levels), ultrasound of the thyroid, and fine-needle aspiration biopsy if nodules are present.
Treatment:
Treatment depends on the cause. Options include iodine supplementation, hormone replacement therapy, antithyroid medications, or surgery (thyroidectomy) if the goiter is large or compressive.
Medications:
Levothyroxine (thyroid hormone replacement therapy, a synthetic form of T4); antithyroid drugs like methimazole or propylthiouracil (if caused by hyperthyroidism).
Prevalence:
How common the health condition is within a specific population.
Affects approximately 200 million people globally, with higher prevalence in areas of iodine deficiency.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Iodine deficiency, female sex, age (older adults), family history of thyroid disorders, autoimmune diseases, radiation exposure.
Prognosis:
The expected outcome or course of the condition over time.
Most cases are manageable with treatment; prognosis depends on the underlying cause. Goiters due to iodine deficiency or simple enlargement often resolve with treatment.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Obstructive symptoms (tracheal or esophageal compression), cosmetic concerns, thyrotoxicosis, or hypothyroidism.
Thyroid Storm (Thyrotoxic Crisis)
Specialty: Diabetes and Endocrinology
Category: Thyroid Disorders
Sub-category: Other Thyroid Disorders
Symptoms:
high fever; rapid heart rate (tachycardia); nervousness or anxiety; tremors; confusion; diarrhea; vomiting; extreme fatigue; shortness of breath
Root Cause:
Severe, life-threatening exacerbation of hyperthyroidism, often triggered by infection, surgery, trauma, or untreated Graves' disease.
How it's Diagnosed: videos
Clinical presentation (severe hyperthyroid symptoms), lab tests showing suppressed TSH and elevated T3/T4 levels, alongside exclusion of other conditions (e.g., sepsis).
Treatment:
Immediate hospitalization, beta-blockers (e.g., propranolol) for symptom control, antithyroid medications (e.g., methimazole or propylthiouracil), iodine to inhibit thyroid hormone release, and corticosteroids to reduce inflammation.
Medications:
Methimazole or propylthiouracil (antithyroid drugs); propranolol (beta-blocker); potassium iodide (iodine preparation ); hydrocortisone (corticosteroid).
Prevalence:
How common the health condition is within a specific population.
Rare, occurring in approximately 1–2% of patients with untreated or poorly managed hyperthyroidism.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Untreated hyperthyroidism, Graves' disease, recent surgery, infection, pregnancy, or iodine exposure.
Prognosis:
The expected outcome or course of the condition over time.
High mortality if untreated (up to 30%); prognosis improves significantly with prompt treatment.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Heart failure, arrhythmias, multiple organ failure, death.
Euthyroid Sick Syndrome
Specialty: Diabetes and Endocrinology
Category: Thyroid Disorders
Sub-category: Other Thyroid Disorders
Symptoms:
no specific thyroid symptoms; may have fatigue or symptoms related to the underlying illness causing the syndrome
Root Cause:
Abnormal thyroid function tests in the setting of a non-thyroidal illness (e.g., infection, trauma, or surgery) without intrinsic thyroid gland dysfunction.
How it's Diagnosed: videos
Lab tests showing low T3 (triiodothyronine), normal or low T4 (thyroxine), and normal or low TSH, in the context of an acute or chronic non-thyroidal illness.
Treatment:
Treatment is aimed at addressing the underlying illness. Thyroid hormone replacement is not recommended unless true hypothyroidism is present.
Medications:
No specific thyroid medications; treatment focuses on managing the primary illness causing the syndrome.
Prevalence:
How common the health condition is within a specific population.
Common in critically ill patients, with prevalence varying depending on the severity of the underlying illness.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Severe illness, sepsis, trauma, surgery, malnutrition, or chronic diseases (e.g., heart failure, liver disease).
Prognosis:
The expected outcome or course of the condition over time.
Resolves with recovery from the underlying illness; thyroid function usually normalizes without specific thyroid treatment.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Rare; complications are typically related to the underlying illness rather than the syndrome itself.
Primary (Addison’s Disease)
Specialty: Diabetes and Endocrinology
Category: Adrenal Disorders
Sub-category: Adrenal Insufficiency
Symptoms:
fatigue; weight loss; muscle weakness; low blood pressure; salt cravings; hyperpigmentation of the skin; nausea; vomiting; abdominal pain; hypoglycemia
Root Cause:
Destruction or dysfunction of the adrenal cortex leads to insufficient production of cortisol and, often, aldosterone.
How it's Diagnosed: videos
Diagnosis involves clinical evaluation, blood tests showing low cortisol and high ACTH levels, and confirmation with an ACTH stimulation test. Electrolyte imbalances (e.g., hyponatremia, hyperkalemia) and low aldosterone may also be observed.
Treatment:
Lifelong hormone replacement therapy with glucocorticoids and mineralocorticoids, stress management, and patient education on managing adrenal crises.
Medications:
Medications include hydrocortisone or prednisone (glucocorticoids) to replace cortisol and fludrocortisone (a mineralocorticoid) to replace aldosterone. These are classified as corticosteroid replacement therapies.
Prevalence:
How common the health condition is within a specific population.
Rare; approximately 1 in 100,000 people are affected, with equal distribution across genders.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Autoimmune diseases (e.g., autoimmune polyendocrine syndrome), infections (e.g., tuberculosis), adrenal hemorrhage, or genetic predisposition.
Prognosis:
The expected outcome or course of the condition over time.
With proper treatment, individuals can live normal lives, but they must manage the risk of adrenal crises, especially during stress or illness.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Adrenal crisis (life-threatening), severe hypotension, electrolyte imbalances, and hypoglycemia.
Secondary Adrenal Insufficiency (e.g., Pituitary Dysfunction)
Specialty: Diabetes and Endocrinology
Category: Adrenal Disorders
Sub-category: Adrenal Insufficiency
Symptoms:
fatigue; muscle weakness; low blood pressure; nausea; vomiting; dizziness; hypoglycemia
Root Cause:
Inadequate production of ACTH by the pituitary gland leads to insufficient stimulation of the adrenal glands, resulting in low cortisol levels.
How it's Diagnosed: videos
Diagnosis involves measuring cortisol and ACTH levels, as well as dynamic testing (e.g., ACTH stimulation test, insulin tolerance test). Brain imaging (MRI) may be used to identify pituitary abnormalities.
Treatment:
Glucocorticoid replacement therapy and, if applicable, addressing the underlying cause (e.g., pituitary tumor or discontinuation of long-term corticosteroid use).
Medications:
Medications include hydrocortisone or prednisone to replace cortisol. These are classified as glucocorticoid replacement therapies.
Prevalence:
How common the health condition is within a specific population.
More common than primary adrenal insufficiency; often associated with prolonged corticosteroid use or pituitary dysfunction. Exact prevalence is unclear but estimated to be higher than Addison's disease.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Long-term corticosteroid use, pituitary tumors, traumatic brain injury, or radiation therapy to the brain.
Prognosis:
The expected outcome or course of the condition over time.
Generally favorable with treatment, but adrenal crises may occur during stress or illness if glucocorticoid dosing is not increased.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Adrenal crisis, persistent fatigue, hypoglycemia, and dependence on hormone replacement therapy.
Cushing’s Syndrome (Excess Cortisol)
Specialty: Diabetes and Endocrinology
Category: Adrenal Disorders
Sub-category: Adrenal Hyperfunction
Symptoms:
weight gain, especially around the abdomen and face; round, moon-shaped face; purple stretch marks on the skin; weakness; fatigue; easily bruised skin; high blood pressure; diabetes; osteoporosis; irritability or depression
Root Cause:
Chronic overproduction of cortisol due to an adrenal tumor, pituitary adenoma (Cushing’s disease), ectopic ACTH secretion, or prolonged use of glucocorticoid medications.
How it's Diagnosed: videos
Diagnosed through serum cortisol tests, dexamethasone suppression test, and imaging for adrenal or pituitary tumors.
Treatment:
Treated with surgery, medications, or radiation depending on the underlying cause.
Medications:
Medications include ketoconazole (an antifungal with cortisol-lowering effects), mitotane (an adrenal cytotoxic agent), metyrapone (a cortisol synthesis inhibitor), and pasireotide (a somatostatin analog used for Cushing’s disease).
Prevalence:
How common the health condition is within a specific population.
Rare, with an estimated prevalence of 10–15 cases per million people annually.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Long-term use of glucocorticoid medications, genetic predisposition, or presence of tumors in the adrenal or pituitary glands.
Prognosis:
The expected outcome or course of the condition over time.
Good with early treatment, but untreated cases can lead to serious complications and reduced life expectancy.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Hypertension, type 2 diabetes, osteoporosis, infections, cardiovascular disease, and psychological issues like depression.
Primary Aldosteronism (Conn’s Syndrome)
Specialty: Diabetes and Endocrinology
Category: Adrenal Disorders
Sub-category: Adrenal Hyperfunction
Symptoms:
high blood pressure resistant to standard treatments; low potassium levels; muscle weakness; frequent urination; fatigue; headaches; tingling or cramping in muscles
Root Cause:
Overproduction of aldosterone from an adrenal adenoma (tumor) or bilateral adrenal hyperplasia, leading to excessive sodium retention and potassium loss.
How it's Diagnosed: videos
Diagnosed by measuring aldosterone-to-renin ratio and adrenal imaging.
Treatment:
Treated with aldosterone antagonists or surgical removal of the affected adrenal gland.
Medications:
Medications include spironolactone or eplerenone (aldosterone receptor antagonists) and amiloride (a potassium-sparing diuretic).
Prevalence:
How common the health condition is within a specific population.
Accounts for 5–10% of all cases of hypertension; more common in individuals with resistant hypertension.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history, hypertension, obesity, and age (middle-aged adults are at higher risk).
Prognosis:
The expected outcome or course of the condition over time.
Excellent with proper management, but untreated cases may lead to severe cardiovascular and renal complications.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Cardiovascular disease, kidney damage, stroke, and persistent hypertension.
Pheochromocytoma and Paraganglioma
Specialty: Diabetes and Endocrinology
Category: Adrenal Disorders
Sub-category: Adrenal Hyperfunction
Symptoms:
episodic high blood pressure; headaches; palpitations; excessive sweating; anxiety or panic attacks; tremors; pale skin; weight loss
Root Cause:
Tumors in the adrenal medulla (pheochromocytoma) or extra-adrenal chromaffin tissue (paraganglioma) causing excessive secretion of catecholamines (epinephrine and norepinephrine).
How it's Diagnosed: videos
Diagnosed using plasma or urine metanephrines and imaging (CT/MRI).
Treatment:
Treated with surgical resection after preoperative alpha- and beta-blockade.
Medications:
Preoperative medications include phenoxybenzamine or doxazosin (alpha-blockers) and propranolol (beta-blocker) to manage symptoms.
Prevalence:
How common the health condition is within a specific population.
Rare, with an estimated prevalence of 0.1% in hypertensive patients.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Genetic mutations (e.g., MEN2, VHL, NF1), family history, and age (most common in adults aged 30–50).
Prognosis:
The expected outcome or course of the condition over time.
Good with early surgical treatment, but undiagnosed cases can be fatal due to hypertensive crises.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Cardiovascular complications (stroke, arrhythmias), multi-organ damage, and malignant transformation in rare cases.
Adrenogenital Syndrome (Congenital Adrenal Hyperplasia)
Specialty: Diabetes and Endocrinology
Category: Adrenal Disorders
Sub-category: Adrenal Hypofunction and Hyperfunction (depending on enzyme deficiency)
Symptoms:
ambiguous genitalia in newborns; early onset of puberty; rapid growth during childhood; short adult stature; salt-wasting symptoms (vomiting, dehydration, low blood pressure); excess hair growth in females; irregular menstrual cycles
Root Cause:
Genetic enzyme deficiencies (most commonly 21-hydroxylase deficiency) impair cortisol and aldosterone synthesis, leading to excess androgen production and potential salt-wasting.
How it's Diagnosed: videos
Diagnosed through hormone testing (e.g., 17-hydroxyprogesterone) and genetic studies.
Treatment:
Treated with lifelong glucocorticoid and mineralocorticoid replacement therapy.
Medications:
Medications include hydrocortisone , prednisone , or dexamethasone (glucocorticoids) and fludrocortisone (mineralocorticoid for salt-wasting forms).
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 15,000 live births worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history (autosomal recessive inheritance).
Prognosis:
The expected outcome or course of the condition over time.
Good with early diagnosis and lifelong treatment, but untreated cases may lead to life-threatening adrenal crises.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Adrenal crises, infertility, psychological effects, and metabolic issues due to overtreatment.
Adrenal Adenomas (Functional and Non-Functional)
Specialty: Diabetes and Endocrinology
Category: Adrenal Disorders
Sub-category: Adrenal Tumors
Symptoms:
abdominal pain; unexplained weight gain or loss; hypertension; fatigue; weakness; hormonal imbalances such as excess cortisol, aldosterone, or androgens (in functional adenomas); asymptomatic (in non-functional adenomas)
Root Cause:
Benign tumors in the adrenal gland, which may or may not produce excess hormones, leading to varied clinical presentations.
How it's Diagnosed: videos
Blood and urine tests for hormone levels, imaging studies such as CT or MRI to identify the size and location of the adenoma, and adrenal vein sampling in specific cases.
Treatment:
Treatment depends on whether the adenoma is functional or non-functional. Functional adenomas typically require surgical removal, whereas non-functional adenomas may be monitored for growth and changes.
Medications:
Medications to manage symptoms include antihypertensives for blood pressure control, spironolactone for aldosterone-related issues, and ketoconazole or metyrapone to reduce cortisol production in Cushing’s syndrome. These medications are classified as antihypertensives, mineralocorticoid receptor antagonists, and steroidogenesis inhibitors, respectively.
Prevalence:
How common the health condition is within a specific population.
Found in approximately 3–5% of adults, with prevalence increasing with age.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Older age, obesity, hypertension, and family history of adrenal tumors or hormone disorders.
Prognosis:
The expected outcome or course of the condition over time.
Generally good if the adenomas are treated or monitored appropriately; functional adenomas can lead to complications if untreated.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Potential complications include Cushing's syndrome, primary aldosteronism, metabolic syndrome, cardiovascular diseases, or malignant transformation (rare).
Adrenal Carcinoma
Specialty: Diabetes and Endocrinology
Category: Adrenal Disorders
Sub-category: Adrenal Tumors
Symptoms:
abdominal pain; unexplained weight loss; hypertension; virilization or feminization (due to androgen or estrogen secretion); cushingoid features (from excess cortisol); weakness; palpable abdominal mass
Root Cause:
A rare and aggressive cancer arising from the adrenal cortex, often associated with excess production of adrenal hormones.
How it's Diagnosed: videos
Blood and urine tests to assess hormone secretion, imaging studies like CT or MRI to identify tumor size and spread, and biopsy or surgical pathology for definitive diagnosis.
Treatment:
Treatment often involves surgical removal of the tumor (adrenalectomy), radiation therapy, and chemotherapy, depending on the stage and spread.
Medications:
Mitotane , an adrenalytic agent, is commonly used to reduce hormone production and target cancer cells. Additional chemotherapy agents include etoposide , doxorubicin , and cisplatin .
Prevalence:
How common the health condition is within a specific population.
Extremely rare, with an incidence of 1–2 cases per million annually.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Genetic syndromes such as Li-Fraumeni syndrome, Beckwith-Wiedemann syndrome, and MEN1; family history of adrenal cancers; and certain environmental exposures.
Prognosis:
The expected outcome or course of the condition over time.
Variable; early-stage tumors have a better prognosis, with a 5-year survival rate of approximately 50–60%. Advanced-stage adrenal carcinoma has a much poorer prognosis.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Metastasis to other organs (lungs, liver, or bones), severe hormonal imbalances, and recurrence after treatment.
Prolactinoma (Hyperprolactinemia)
Specialty: Diabetes and Endocrinology
Category: Pituitary Disorders
Sub-category: Pituitary Tumors
Symptoms:
irregular menstrual periods; galactorrhea (milk discharge); reduced libido; infertility; headaches; vision disturbances
Root Cause:
Caused by a benign tumor (adenoma) of the pituitary gland, leading to excessive production of prolactin.
How it's Diagnosed: videos
Blood tests to measure prolactin levels, MRI or CT scans of the pituitary gland.
Treatment:
Dopamine agonists to reduce prolactin levels and shrink the tumor, surgery in resistant cases, or radiation therapy if surgery is unsuccessful.
Medications:
Bromocriptine and cabergoline (dopamine agonists) are commonly prescribed to reduce prolactin levels and shrink the tumor.
Prevalence:
How common the health condition is within a specific population.
Most common type of pituitary adenoma, affecting approximately 40% of pituitary tumor cases.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Female gender, use of medications affecting dopamine, hypothyroidism.
Prognosis:
The expected outcome or course of the condition over time.
Generally good with treatment; medications are effective in most cases, and surgery is typically successful if needed.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Infertility, osteoporosis, compression of nearby brain structures causing vision loss or other neurological issues.
Acromegaly (Excess Growth Hormone)
Specialty: Diabetes and Endocrinology
Category: Pituitary Disorders
Sub-category: Pituitary Tumors
Symptoms:
enlargement of hands and feet; facial changes (e.g., protruding jaw); joint pain; deepened voice; headaches; vision disturbances; insulin resistance
Root Cause:
Caused by a benign tumor (adenoma) in the pituitary gland leading to overproduction of growth hormone (GH).
How it's Diagnosed: videos
Elevated IGF-1 levels, oral glucose tolerance test for GH suppression, MRI of the pituitary gland.
Treatment:
Surgery to remove the tumor, medications to inhibit GH production, and radiation therapy if surgery and medications are insufficient.
Medications:
Somatostatin analogs (e.g., octreotide , lanreotide ), GH receptor antagonists (e.g., pegvisomant ), and dopamine agonists (e.g., cabergoline ).
Prevalence:
How common the health condition is within a specific population.
Rare, with approximately 3-4 cases per million people annually.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Typically occurs in middle-aged adults; no significant hereditary predisposition.
Prognosis:
The expected outcome or course of the condition over time.
Early treatment improves outcomes; untreated acromegaly can lead to significant complications and reduced life expectancy.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Cardiovascular disease, diabetes mellitus, sleep apnea, arthritis, and compression of surrounding brain structures.
Cushing’s Disease (Pituitary ACTH Overproduction)
Specialty: Diabetes and Endocrinology
Category: Pituitary Disorders
Sub-category: Pituitary Tumors
Symptoms:
weight gain; moon face; buffalo hump (fat pad on the back of the neck); skin thinning; purple striae (stretch marks); muscle weakness; hypertension; osteoporosis
Root Cause:
Caused by a pituitary adenoma producing excessive adrenocorticotropic hormone (ACTH), leading to overproduction of cortisol by the adrenal glands.
How it's Diagnosed: videos
24-hour urinary free cortisol test, dexamethasone suppression test, blood ACTH levels, and pituitary MRI.
Treatment:
Transsphenoidal surgery to remove the tumor, medications to suppress cortisol production, and radiation therapy if necessary.
Medications:
Ketoconazole , metyrapone , or mitotane (cortisol synthesis inhibitors) and pasireotide (a somatostatin analog) to lower ACTH production.
Prevalence:
How common the health condition is within a specific population.
Rare, affecting 10-15 people per million annually.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Women are more frequently affected; typically occurs in adults aged 20-50 years.
Prognosis:
The expected outcome or course of the condition over time.
Treatment is effective in most cases, though recurrence can occur; untreated, it can lead to severe complications.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Hypertension, type 2 diabetes, cardiovascular disease, infections, osteoporosis, and psychiatric disturbances.
Non-Functioning Pituitary Adenomas
Specialty: Diabetes and Endocrinology
Category: Pituitary Disorders
Sub-category: Pituitary Tumors
Symptoms:
headaches; vision problems (e.g., loss of peripheral vision); hormonal deficiencies; fatigue; infertility
Root Cause:
Benign tumors of the pituitary gland that do not secrete active hormones but can compress nearby structures, causing symptoms.
How it's Diagnosed: videos
MRI of the pituitary gland, blood tests for pituitary hormone levels.
Treatment:
Surgery (transsphenoidal resection) to remove the tumor; radiation therapy for residual or recurrent tumors; hormone replacement therapy for deficiencies.
Medications:
Hormone replacement therapy (e.g., hydrocortisone , levothyroxine , sex steroids, or growth hormone) for pituitary deficiencies caused by the tumor.
Prevalence:
How common the health condition is within a specific population.
Approximately 15-30% of pituitary tumors are non-functioning adenomas.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Middle-aged adults; no specific hereditary risk factors identified.
Prognosis:
The expected outcome or course of the condition over time.
Generally good with surgery; hormone deficiencies may require lifelong management.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Vision loss, hypopituitarism, and compression of nearby brain structures causing neurological deficits.
Hypopituitarism (Deficiency of Pituitary Hormones)
Specialty: Diabetes and Endocrinology
Category: Pituitary Disorders
Sub-category: Pituitary Insufficiency
Symptoms:
fatigue; weakness; weight changes; cold intolerance; low libido; decreased appetite; nausea; dizziness; infertility; growth delays in children
Root Cause:
Reduced or absent production of one or more pituitary hormones due to damage or dysfunction of the pituitary gland or hypothalamus.
How it's Diagnosed: videos
Blood tests to measure hormone levels (e.g., ACTH, TSH, GH, LH, FSH), MRI of the pituitary gland, stimulation tests for specific hormones.
Treatment:
Hormone replacement therapy tailored to the deficient hormones (e.g., cortisol, thyroid hormone, sex hormones, growth hormone).
Medications:
Hormone replacement medications include hydrocortisone or prednisone for adrenal insufficiency (glucocorticoids), levothyroxine for hypothyroidism (thyroid hormone replacement), and testosterone or estrogen/progesterone for hypogonadism (sex hormone therapy). Recombinant human growth hormone (GH) may be prescribed for growth hormone deficiency.
Prevalence:
How common the health condition is within a specific population.
Estimated to affect approximately 45 per 100,000 people.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Pituitary tumors, traumatic brain injury, radiation therapy to the head, autoimmune conditions, infections, genetic mutations.
Prognosis:
The expected outcome or course of the condition over time.
Lifelong management is required with good outcomes if hormone replacement is adequate.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Adrenal crisis, osteoporosis, cardiovascular disease, infertility, psychological effects such as depression or anxiety.
Diabetes Insipidus (Central and Nephrogenic)
Specialty: Diabetes and Endocrinology
Category: Pituitary Disorders
Symptoms:
excessive thirst (polydipsia); excessive urination (polyuria); nocturia; dehydration; dry skin; fatigue; electrolyte imbalances
Root Cause:
Central DI results from inadequate secretion of antidiuretic hormone (ADH) due to damage to the hypothalamus or pituitary. Nephrogenic DI results from the kidneys' inability to respond to ADH.
How it's Diagnosed: videos
Water deprivation test, urine osmolality tests, blood electrolyte levels, MRI of the brain to assess the pituitary gland.
Treatment:
Treated with desmopressin to replace vasopressin, while nephrogenic diabetes insipidus is managed with a low-sodium diet, thiazide diuretics, and addressing the underlying cause.
Medications:
Desmopressin (antidiuretic hormone analog) for Central DI; thiazide diuretics (e.g., hydrochlorothiazide ) and NSAIDs (e.g., indomethacin ) for Nephrogenic DI.
Prevalence:
How common the health condition is within a specific population.
Central DI is rare, occurring in 1 in 25,000 people. Nephrogenic DI prevalence varies depending on genetic or acquired causes.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Head trauma, brain surgery, autoimmune conditions, genetic mutations, chronic kidney disease, lithium therapy.
Prognosis:
The expected outcome or course of the condition over time.
Good with appropriate treatment, though lifelong management may be necessary.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Severe dehydration, electrolyte imbalances, kidney damage, cardiovascular issues from chronic dehydration.
Sheehan’s Syndrome (Postpartum Hypopituitarism)
Specialty: Diabetes and Endocrinology
Category: Pituitary Disorders
Sub-category: Postpartum Endocrine Disorders
Symptoms:
fatigue; inability to lactate; loss of pubic and axillary hair; low blood pressure; cold intolerance; weight loss; amenorrhea; nausea
Root Cause:
Pituitary gland necrosis caused by severe blood loss or hypovolemic shock during or after childbirth.
How it's Diagnosed: videos
Clinical history of postpartum hemorrhage, blood tests for hormone levels, MRI of the pituitary gland.
Treatment:
Lifelong hormone replacement therapy, including cortisol (hydrocortisone or prednisone), levothyroxine, and sex hormones as needed.
Medications:
Hydrocortisone or prednisone for adrenal insufficiency, levothyroxine for thyroid hormone replacement, and estrogen/progesterone or testosterone for sex hormone deficiency.
Prevalence:
How common the health condition is within a specific population.
Occurs in about 1 in 10,000 deliveries, more common in low-resource settings with inadequate obstetric care.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Severe postpartum hemorrhage, prolonged labor, multiple pregnancies, anemia, low-resource settings.
Prognosis:
The expected outcome or course of the condition over time.
Manageable with appropriate hormone replacement therapy, but quality of life depends on timely diagnosis and treatment.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Adrenal crisis, infertility, osteoporosis, psychological effects such as depression or anxiety.
Empty Sella Syndrome
Specialty: Diabetes and Endocrinology
Category: Pituitary Disorders
Sub-category: Other Pituitary Disorders
Symptoms:
headaches; vision problems; hormonal imbalances such as irregular periods or reduced libido; fatigue; low stress tolerance
Root Cause:
The sella turcica, a bony structure that houses the pituitary gland, is partially or completely filled with cerebrospinal fluid, compressing the pituitary gland and potentially impairing its function.
How it's Diagnosed: videos
Diagnosed through MRI or CT scans of the brain, blood tests to assess pituitary hormone levels, and a clinical evaluation of symptoms.
Treatment:
Treatment focuses on managing symptoms and underlying hormonal deficiencies with hormone replacement therapy or addressing the cause, if identifiable.
Medications:
Hormone replacement therapy is the primary treatment. This may include levothyroxine (for hypothyroidism), corticosteroids (for adrenal insufficiency), or desmopressin (for diabetes insipidus).
Prevalence:
How common the health condition is within a specific population.
Estimated to occur in approximately 8–35% of the general population, often asymptomatic and detected incidentally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Female gender, obesity, high blood pressure, a history of radiation therapy or surgery near the pituitary gland, or intracranial hypertension.
Prognosis:
The expected outcome or course of the condition over time.
Generally good, particularly if asymptomatic; prognosis depends on the degree of pituitary dysfunction.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Potential complications include chronic headaches, vision impairment, infertility, and severe hormone imbalances requiring lifelong management.
Craniopharyngioma
Specialty: Diabetes and Endocrinology
Category: Pituitary Disorders
Sub-category: Pituitary Tumors
Symptoms:
headaches; vision changes such as double vision or loss of peripheral vision; growth delays in children; fatigue; increased thirst and urination; hormonal deficiencies like hypothyroidism or adrenal insufficiency
Root Cause:
A benign tumor arising near the pituitary gland and hypothalamus, which can disrupt hormonal regulation, increase intracranial pressure, and compress nearby structures.
How it's Diagnosed: videos
Diagnosed through MRI or CT imaging, hormone level blood tests, and visual field testing.
Treatment:
Surgery to remove the tumor is the primary treatment, often followed by radiation therapy. Hormone replacement therapy is used to manage any resulting deficiencies.
Medications:
Hormone replacements, including levothyroxine for hypothyroidism, hydrocortisone or prednisone for adrenal insufficiency, and desmopressin for diabetes insipidus, may be prescribed. Somatropin (growth hormone) may be used for growth delays.
Prevalence:
How common the health condition is within a specific population.
Rare, with an incidence of approximately 1–2 cases per million per year; commonly diagnosed in children and older adults.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Genetic predisposition in rare cases; no known modifiable risk factors.
Prognosis:
The expected outcome or course of the condition over time.
Prognosis depends on the success of surgical removal and management of hormone deficiencies. While the tumor is benign, recurrence and long-term hormonal therapy needs are common.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Potential complications include permanent hormonal deficiencies, vision loss, cognitive or behavioral changes, and recurrence of the tumor.
Primary Hyperparathyroidism (e.g., Parathyroid Adenoma)
Specialty: Diabetes and Endocrinology
Category: Parathyroid Disorders
Sub-category: Hyperparathyroidism
Symptoms:
fatigue; muscle weakness; bone pain; nausea; kidney stones; constipation; polyuria; depression; confusion
Root Cause:
Overproduction of parathyroid hormone (PTH) caused by a benign tumor (adenoma) in one or more parathyroid glands, leading to elevated calcium levels.
How it's Diagnosed: videos
Blood tests (elevated calcium and PTH levels), 24-hour urine calcium test, imaging studies like ultrasound or Sestamibi scan for adenoma localization.
Treatment:
Surgical removal of the adenoma (parathyroidectomy); non-surgical management includes hydration and medications to control calcium levels.
Medications:
Calcimimetics (e.g., cinacalcet , which decreases PTH secretion), bisphosphonates (e.g., alendronate , to reduce bone resorption), and vitamin D supplements if indicated.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1–3 per 1,000 individuals, with a higher prevalence in postmenopausal women.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Female sex, age over 50, genetic predisposition, prolonged lithium or radiation exposure.
Prognosis:
The expected outcome or course of the condition over time.
Excellent prognosis with surgery; most symptoms resolve after treatment, though bone density recovery may take time.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Osteoporosis, kidney stones, chronic kidney disease, cardiovascular issues due to hypercalcemia.
Secondary Hyperparathyroidism
Specialty: Diabetes and Endocrinology
Category: Parathyroid Disorders
Sub-category: Hyperparathyroidism
Symptoms:
bone pain; weakness; pruritus (itching); muscle cramps; fatigue
Root Cause:
Overproduction of PTH due to chronic hypocalcemia, often caused by vitamin D deficiency or chronic kidney disease (CKD), leading to disrupted calcium-phosphate balance.
How it's Diagnosed: videos
Blood tests (elevated PTH, low or normal calcium, high phosphate), imaging studies to assess bone density, and evaluation of kidney function.
Treatment:
Addressing the underlying cause (e.g., vitamin D supplementation, phosphate binders), dietary phosphate restriction, or use of calcimimetics. Dialysis or kidney transplant may be necessary for CKD.
Medications:
Activated vitamin D analogs (e.g., calcitriol , paricalcitol ), phosphate binders (e.g., sevelamer , lanthanum carbonate), and calcimimetics (e.g., cinacalcet ).
Prevalence:
How common the health condition is within a specific population.
Common in patients with CKD, affecting up to 90% of individuals with advanced kidney disease.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Chronic kidney disease, vitamin D deficiency, malabsorption syndromes, inadequate dietary calcium intake.
Prognosis:
The expected outcome or course of the condition over time.
Variable; depends on the underlying cause and management. Progression of CKD can worsen outcomes if not adequately addressed.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Renal osteodystrophy, vascular calcifications, fractures, cardiovascular disease.
Tertiary Hyperparathyroidism
Specialty: Diabetes and Endocrinology
Category: Parathyroid Disorders
Sub-category: Hyperparathyroidism
Symptoms:
persistent hypercalcemia; bone pain; fractures; kidney stones; muscle weakness; fatigue
Root Cause:
Autonomous overproduction of PTH due to prolonged secondary hyperparathyroidism, usually in patients with end-stage renal disease (ESRD).
How it's Diagnosed: videos
Elevated PTH and calcium levels despite resolution of hypocalcemia; imaging studies to assess parathyroid gland hyperplasia.
Treatment:
Parathyroidectomy is often required. Non-surgical management includes medications to manage calcium and phosphate levels.
Medications:
Calcimimetics (e.g., cinacalcet to lower PTH levels), bisphosphonates (to prevent bone loss), and vitamin D analogs (e.g., calcitriol ).
Prevalence:
How common the health condition is within a specific population.
Occurs in 15–20% of patients with long-standing secondary hyperparathyroidism, typically after years of dialysis.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Long-standing secondary hyperparathyroidism, end-stage renal disease, and inadequate treatment of calcium-phosphate imbalances.
Prognosis:
The expected outcome or course of the condition over time.
Good with appropriate surgical or medical management; untreated cases can lead to significant morbidity.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Severe hypercalcemia, bone deformities, cardiovascular calcifications, and organ dysfunction.
Post-Surgical Hypoparathyroidism
Specialty: Diabetes and Endocrinology
Category: Parathyroid Disorders
Sub-category: Hypoparathyroidism
Symptoms:
muscle cramps; tingling or numbness in fingers and toes; seizures; fatigue; anxiety; brittle nails; hair thinning
Root Cause:
Removal or damage to the parathyroid glands during neck surgery (e.g., thyroidectomy) results in insufficient parathyroid hormone (PTH), leading to low calcium levels (hypocalcemia) and elevated phosphate levels (hyperphosphatemia).
How it's Diagnosed: videos
Blood tests showing low PTH levels, low serum calcium, high serum phosphate, and potentially low magnesium levels. Clinical history of recent neck surgery.
Treatment:
Calcium and vitamin D supplementation (active forms such as calcitriol) to maintain normal blood calcium levels. Severe cases may require intravenous calcium administration.
Medications:
Oral calcium carbonate or calcium citrate, calcitriol (active vitamin D), and, in severe or refractory cases, recombinant parathyroid hormone (PTH 1-84 or PTH 1-34). These medications are classified as mineral supplements, vitamin D analogs, or hormone replacement therapy.
Prevalence:
How common the health condition is within a specific population.
Occurs in 1–7% of patients following thyroid or parathyroid surgery.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Extensive neck surgery, inadvertent damage to or removal of parathyroid glands, lack of surgical expertise.
Prognosis:
The expected outcome or course of the condition over time.
With proper management, patients can achieve stable calcium levels, although lifelong treatment may be necessary.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Chronic hypocalcemia can lead to cataracts, basal ganglia calcifications, cardiac arrhythmias, and seizures.
Autoimmune Hypoparathyroidism
Specialty: Diabetes and Endocrinology
Category: Parathyroid Disorders
Sub-category: Hypoparathyroidism
Symptoms:
tetany; paresthesia; muscle weakness; fatigue; depression; dry skin; brittle nails
Root Cause:
The immune system mistakenly attacks the parathyroid glands, reducing or eliminating PTH production, leading to hypocalcemia and hyperphosphatemia.
How it's Diagnosed: videos
Blood tests showing low PTH, hypocalcemia, and hyperphosphatemia, along with autoimmune markers (e.g., anti-parathyroid antibodies). Diagnosis may also include ruling out other causes of hypoparathyroidism.
Treatment:
Calcium and vitamin D supplementation (e.g., calcitriol), and in some cases, immunosuppressive therapy to manage autoimmune activity.
Medications:
Calcium carbonate or citrate, calcitriol , recombinant PTH, and occasionally corticosteroids or other immunosuppressants to control autoimmune responses.
Prevalence:
How common the health condition is within a specific population.
Rare; autoimmune hypoparathyroidism is a component of autoimmune polyglandular syndrome type 1 (APS-1).
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Genetic predisposition, coexisting autoimmune disorders, family history of APS-1.
Prognosis:
The expected outcome or course of the condition over time.
Lifelong management is often required, but with appropriate treatment, most patients maintain adequate calcium levels.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Similar to post-surgical hypoparathyroidism, with additional risks from associated autoimmune diseases.
Congenital Hypoparathyroidism
Specialty: Diabetes and Endocrinology
Category: Parathyroid Disorders
Sub-category: Hypoparathyroidism
Symptoms:
failure to thrive in infancy; seizures; muscle cramps; weakness; tingling sensations; developmental delays
Root Cause:
Abnormal development of the parathyroid glands due to genetic mutations (e.g., mutations in the GATA3 or CASR genes) or syndromic associations like DiGeorge syndrome (22q11.2 deletion).
How it's Diagnosed: videos
Genetic testing, blood tests showing low PTH, hypocalcemia, and hyperphosphatemia. Imaging studies (e.g., echocardiography) may reveal associated congenital abnormalities.
Treatment:
Calcium and active vitamin D supplementation to correct hypocalcemia. In severe cases, recombinant PTH may be used. Addressing associated congenital abnormalities is also critical.
Medications:
Calcium carbonate or citrate, calcitriol , and recombinant PTH for resistant cases. Medications include mineral supplements and vitamin D analogs.
Prevalence:
How common the health condition is within a specific population.
Rare; varies depending on the specific genetic cause or syndrome.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Genetic mutations, family history, syndromic conditions such as DiGeorge syndrome.
Prognosis:
The expected outcome or course of the condition over time.
With early diagnosis and treatment, many patients achieve stable calcium levels and lead relatively normal lives, though some may experience developmental delays.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Seizures, cardiac issues (in syndromic cases), and long-term complications of hypocalcemia.
Pseudohypoparathyroidism
Specialty: Diabetes and Endocrinology
Category: Parathyroid Disorders
Sub-category: Other Parathyroid Disorders
Symptoms:
numbness or tingling in the fingers, toes, or lips; muscle cramps; spasms (tetany); fatigue; short stature; round face; skeletal abnormalities (e.g., shortened fourth and fifth metacarpals/metatarsals)
Root Cause:
Body tissues are resistant to parathyroid hormone (PTH), leading to low calcium levels and high phosphate levels despite normal or elevated PTH levels.
How it's Diagnosed: videos
Blood tests for calcium, phosphate, and PTH levels; genetic testing for GNAS mutations; X-rays to detect skeletal abnormalities.
Treatment:
Management of calcium and phosphate imbalance through supplementation and dietary modifications.
Medications:
Calcium supplements and active forms of vitamin D (e.g., calcitriol ) to correct hypocalcemia. In some cases, phosphate binders may be prescribed. These are classified as mineral supplements and vitamin D analogs.
Prevalence:
How common the health condition is within a specific population.
Rare, affecting approximately 1 in 100,000 to 1 in 200,000 individuals.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Genetic inheritance of GNAS mutations; autosomal dominant transmission.
Prognosis:
The expected outcome or course of the condition over time.
Generally manageable with appropriate treatment, though complications can arise if untreated.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Seizures due to severe hypocalcemia, dental abnormalities, and potential chronic kidney disease from hyperphosphatemia.
Postmenopausal Osteoporosis
Specialty: Diabetes and Endocrinology
Category: Bone and Mineral Metabolism Disorders
Sub-category: Osteoporosis
Symptoms:
fractures from minor trauma (e.g., hip, wrist, vertebral); back pain; loss of height; stooped posture
Root Cause:
Decreased estrogen levels after menopause lead to accelerated bone resorption, reducing bone density and increasing fracture risk.
How it's Diagnosed: videos
Bone Mineral Density (BMD) testing using dual-energy X-ray absorptiometry (DEXA), clinical assessment of risk factors, and evaluation for fragility fractures.
Treatment:
Lifestyle modifications (calcium and vitamin D supplementation, weight-bearing exercises), anti-resorptive medications (e.g., bisphosphonates), and anabolic therapies (e.g., teriparatide).
Medications:
Bisphosphonates (e.g., alendronate , risedronate ) to inhibit bone resorption; selective estrogen receptor modulators (e.g., raloxifene ) for estrogen mimicry; denosumab (RANK ligand inhibitor); teriparatide (parathyroid hormone analog for bone building); and calcitonin .
Prevalence:
How common the health condition is within a specific population.
Affects approximately 20% of postmenopausal women globally, with higher prevalence in individuals of European and Asian descent.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Advanced age, early menopause, low body weight, family history of osteoporosis, smoking, excessive alcohol intake, physical inactivity, and inadequate calcium/vitamin D intake.
Prognosis:
The expected outcome or course of the condition over time.
With early diagnosis and treatment, fracture risk can be significantly reduced, and quality of life preserved. Without treatment, progressive bone loss may lead to frequent fractures and disability.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Fractures, particularly of the hip and spine, which can lead to chronic pain, loss of independence, and increased mortality.
Glucocorticoid-Induced Osteoporosis
Specialty: Diabetes and Endocrinology
Category: Bone and Mineral Metabolism Disorders
Sub-category: Osteoporosis
Symptoms:
bone pain; increased susceptibility to fractures; height loss; muscle weakness
Root Cause:
Chronic glucocorticoid use reduces osteoblast activity and increases bone resorption, resulting in decreased bone formation and loss of bone mass.
How it's Diagnosed: videos
Assessment of bone density via DEXA scan, history of long-term glucocorticoid use, and clinical evaluation of fracture risk.
Treatment:
Minimizing glucocorticoid dosage when possible, supplementation with calcium and vitamin D, use of bisphosphonates or denosumab to reduce bone resorption, and anabolic therapies such as teriparatide for severe cases.
Medications:
Bisphosphonates like alendronate or zoledronic acid to reduce bone turnover; denosumab (a RANKL inhibitor) to prevent resorption; and teriparatide (a parathyroid hormone analog) to stimulate bone formation. Calcium and vitamin D are essential for all patients.
Prevalence:
How common the health condition is within a specific population.
Up to 30-50% of patients on long-term glucocorticoids develop significant bone loss; higher rates in older adults and postmenopausal women.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Long-term use of glucocorticoids, low body weight, advanced age, previous fractures, smoking, alcohol consumption, and low calcium/vitamin D intake.
Prognosis:
The expected outcome or course of the condition over time.
Early intervention can prevent fractures, but untreated cases carry a high risk of recurrent fractures and long-term disability.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Fragility fractures, particularly in the spine and ribs, leading to chronic pain, deformity, and impaired mobility.
Secondary Causes of Osteoporosis (e.g., Hyperthyroidism)
Specialty: Diabetes and Endocrinology
Category: Bone and Mineral Metabolism Disorders
Sub-category: Osteoporosis
Symptoms:
bone pain; fractures from minimal trauma; muscle weakness; height loss; fatigue
Root Cause:
Secondary osteoporosis results from an underlying medical condition (e.g., excess thyroid hormone in hyperthyroidism), which accelerates bone resorption and decreases bone strength.
How it's Diagnosed: videos
Identification of the underlying condition through blood tests (e.g., thyroid hormone levels, parathyroid hormone levels), DEXA scan to measure bone density, and evaluation for fragility fractures.
Treatment:
Treating the underlying cause (e.g., controlling hyperthyroidism with antithyroid medications or surgery), calcium and vitamin D supplementation, and using anti-resorptive agents like bisphosphonates if indicated.
Medications:
Bisphosphonates for bone preservation; treatment for the underlying cause (e.g., methimazole for hyperthyroidism or cinacalcet for hyperparathyroidism). Calcium and vitamin D are adjunct therapies.
Prevalence:
How common the health condition is within a specific population.
Varies depending on the underlying condition; hyperthyroidism-induced bone loss is common in individuals with untreated or poorly managed thyroid disease.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Presence of underlying medical conditions like hyperthyroidism, hyperparathyroidism, malabsorption syndromes, and chronic inflammatory diseases.
Prognosis:
The expected outcome or course of the condition over time.
Prognosis improves significantly with successful management of the underlying condition and preventive measures for bone health.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Increased fracture risk, chronic pain, spinal deformities, and reduced quality of life.
Phosphate Disorders
Specialty: Diabetes and Endocrinology
Category: Bone and Mineral Metabolism Disorders
Sub-category: Electrolyte Imbalance
Symptoms:
muscle weakness; bone pain; fatigue; confusion; seizures; irregular heartbeats
Root Cause:
Abnormal phosphate levels in the blood, either hypophosphatemia (low phosphate) or hyperphosphatemia (high phosphate), affecting cellular and skeletal functions.
How it's Diagnosed: videos
Blood tests to measure serum phosphate, calcium, and PTH levels; urine tests for phosphate excretion; assessment of vitamin D status and kidney function.
Treatment:
Treated by addressing the underlying cause, with hypophosphatemia managed using oral or intravenous phosphate supplementation, and hyperphosphatemia treated with phosphate binders, dietary restrictions, and managing associated conditions like kidney disease.
Medications:
Hypophosphatemia - Oral phosphate supplements (e.g., potassium phosphate or sodium phosphate) or intravenous phosphate for severe cases. Hyperphosphatemia - Managed with phosphate binders such as calcium acetate, calcium carbonate, sevelamer , lanthanum carbonate, or aluminum hydroxide, often alongside dietary phosphate restrictions and treatments for underlying conditions like chronic kidney disease.
Prevalence:
How common the health condition is within a specific population.
Varies widely; hypophosphatemia is common in hospitalized patients and those with malnutrition, while hyperphosphatemia often occurs in individuals with chronic kidney disease (CKD).
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Kidney disease, malnutrition, alcohol dependency, vitamin D deficiency or excess, certain medications (e.g., diuretics or antacids).
Prognosis:
The expected outcome or course of the condition over time.
Good with early recognition and management. Chronic untreated phosphate disorders can lead to long-term complications.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
For hypophosphatemia
Hyperphosphatemia
Specialty: Diabetes and Endocrinology
Category: Bone and Mineral Metabolism Disorders
Symptoms:
muscle cramps; tetany; calcifications in soft tissues; itching; joint pain
Root Cause:
Excess phosphate in the blood due to decreased renal excretion (e.g., kidney disease), excessive intake, or cellular release.
How it's Diagnosed: videos
Serum phosphate levels >4.5 mg/dL, often accompanied by elevated serum PTH, calcium, and creatinine in secondary hyperparathyroidism.
Treatment:
Reducing dietary phosphate, phosphate binders (e.g., sevelamer, lanthanum carbonate), and treating underlying conditions like chronic kidney disease.
Medications:
Phosphate binders like sevelamer , calcium acetate, and lanthanum carbonate are used to lower phosphate levels in the blood.
Prevalence:
How common the health condition is within a specific population.
Common in chronic kidney disease patients, with prevalence up to 70% in advanced stages.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Chronic kidney disease, excessive phosphate intake (e.g., supplements or processed foods), hypoparathyroidism, and certain genetic disorders.
Prognosis:
The expected outcome or course of the condition over time.
Treatable with dietary and medical management, but persistent hyperphosphatemia increases cardiovascular and mortality risks.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Vascular calcifications, cardiovascular disease, and secondary hyperparathyroidism.
Hypophosphatemia
Specialty: Diabetes and Endocrinology
Category: Bone and Mineral Metabolism Disorders
Symptoms:
muscle weakness; bone pain; rhabdomyolysis; confusion; seizures
Root Cause:
Deficiency of phosphate in the blood due to inadequate intake, excessive loss, or intracellular shifts (e.g., refeeding syndrome).
How it's Diagnosed: videos
Serum phosphate levels <2.5 mg/dL, alongside clinical evaluation and identifying underlying causes.
Treatment:
Oral or intravenous phosphate supplementation depending on severity, and addressing the underlying cause (e.g., vitamin D deficiency or refeeding syndrome).
Medications:
Oral phosphate supplements (e.g., sodium phosphate, potassium phosphate) or intravenous phosphate in severe cases. Vitamin D (calcitriol ) may also be used to aid phosphate absorption.
Prevalence:
How common the health condition is within a specific population.
Common in critically ill patients, alcoholics, or those with refeeding syndrome; prevalence varies depending on underlying conditions.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Chronic alcoholism, malnutrition, vitamin D deficiency, refeeding syndrome, and hyperparathyroidism.
Prognosis:
The expected outcome or course of the condition over time.
Excellent with prompt treatment; prolonged or severe cases can result in complications like muscle breakdown or cardiac issues.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Rhabdomyolysis, respiratory failure, hemolysis, and impaired immune function.
Premature Ovarian Insufficiency (POI)
Specialty: Diabetes and Endocrinology
Category: Reproductive Endocrinology
Sub-category: Female Disorders
Symptoms:
irregular or missed periods; hot flashes; night sweats; vaginal dryness; infertility; mood changes; fatigue
Root Cause:
Loss of normal ovarian function before age 40 due to genetic factors, autoimmune disorders, or unknown causes.
How it's Diagnosed: videos
Blood tests (e.g., FSH, estradiol, anti-Müllerian hormone (AMH)), pelvic ultrasound, and karyotype analysis for genetic evaluation.
Treatment:
Hormone replacement therapy (HRT), fertility preservation techniques, and emotional support or counseling.
Medications:
Hormone replacement therapy (e.g., estradiol and progestin combinations) to manage symptoms and reduce risks of osteoporosis, calcium, and vitamin D supplements.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1% of women under age 40.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of POI, autoimmune diseases, chemotherapy, or radiation therapy.
Prognosis:
The expected outcome or course of the condition over time.
Hormonal and symptom management improve quality of life, but fertility is often significantly reduced.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Osteoporosis, cardiovascular disease, infertility, and psychological distress.
Hyperandrogenism
Specialty: Diabetes and Endocrinology
Category: Reproductive Endocrinology
Sub-category: Female Disorders
Symptoms:
excessive hair growth (hirsutism); acne; male-pattern baldness; deepening of voice; irregular periods; infertility
Root Cause:
Elevated levels of androgens (male hormones) due to conditions such as PCOS, adrenal hyperplasia, or androgen-secreting tumors.
How it's Diagnosed: videos
Blood tests for androgen levels (testosterone, DHEAS), imaging studies (ultrasound or CT for tumors), and clinical assessment.
Treatment:
Addressing the underlying cause (e.g., treating PCOS), anti-androgen medications, and cosmetic procedures for symptom management.
Medications:
Spironolactone (anti-androgen), oral contraceptives (estrogen-progestin combinations), flutamide or finasteride (androgen receptor blockers).
Prevalence:
How common the health condition is within a specific population.
Common among women with PCOS; prevalence varies based on the underlying condition.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
PCOS, adrenal or ovarian tumors, certain medications.
Prognosis:
The expected outcome or course of the condition over time.
Improves with treatment of the underlying cause; symptoms may persist without ongoing management.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Infertility, psychological distress, and metabolic issues depending on the underlying condition.
Menstrual Irregularities (Endocrine-Related)
Specialty: Diabetes and Endocrinology
Category: Reproductive Endocrinology
Sub-category: Female Disorders
Symptoms:
irregular cycles; heavy bleeding (menorrhagia); absence of periods (amenorrhea); painful periods (dysmenorrhea); spotting between cycles
Root Cause:
Hormonal imbalances due to conditions such as PCOS, hypothyroidism, hyperthyroidism, or hyperprolactinemia.
How it's Diagnosed: videos
Clinical history, blood tests for hormone levels (e.g., LH, FSH, TSH, prolactin), and pelvic ultrasound.
Treatment:
Treatment of underlying hormonal conditions, hormonal therapy to regulate cycles, and lifestyle modifications.
Medications:
Oral contraceptives to regulate cycles, progestins to manage heavy bleeding, levothyroxine for hypothyroidism, or dopamine agonists for hyperprolactinemia.
Prevalence:
How common the health condition is within a specific population.
Varies widely depending on the underlying condition; common in women of reproductive age.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Hormonal disorders, obesity, stress, family history.
Prognosis:
The expected outcome or course of the condition over time.
Treatable in most cases with hormonal or medical interventions; prognosis depends on the underlying cause.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Infertility, anemia, endometrial hyperplasia, or psychological distress.
Hypogonadism (Primary and Secondary)
Specialty: Diabetes and Endocrinology
Category: Reproductive Endocrinology
Sub-category: Male Disorders
Symptoms:
decreased libido; erectile dysfunction; fatigue; loss of muscle mass; increased body fat; reduced beard and body hair growth; infertility; depression; osteoporosis
Root Cause:
Insufficient production of testosterone or sperm due to testicular dysfunction (primary hypogonadism) or hypothalamic/pituitary dysfunction (secondary hypogonadism).
How it's Diagnosed: videos
Blood tests for testosterone levels, LH, FSH, prolactin, and sometimes genetic testing or imaging of the pituitary gland or testes.
Treatment:
Testosterone replacement therapy (TRT), gonadotropin therapy for fertility, or addressing underlying causes in secondary hypogonadism.
Medications:
Testosterone can be prescribed as intramuscular injections (e.g., testosterone enanthate or cypionate ), topical gels (e.g., AndroGel ), patches, or oral capsules . Clomiphene citrate (a selective estrogen receptor modulator) or human chorionic gonadotropin (hCG) may be used for fertility.
Prevalence:
How common the health condition is within a specific population.
Estimated to affect 4–5 million men in the US; prevalence increases with age.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Aging, testicular injury, chemotherapy, radiation, pituitary disorders, genetic conditions (e.g., Klinefelter Syndrome), obesity, and chronic illnesses.
Prognosis:
The expected outcome or course of the condition over time.
Good with appropriate management; untreated cases may lead to complications like osteoporosis and cardiovascular disease.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Infertility, decreased bone density, cardiovascular risk, mood disorders.
Klinefelter Syndrome
Specialty: Diabetes and Endocrinology
Category: Reproductive Endocrinology
Sub-category: Male Disorders
Symptoms:
small testes; low testosterone levels; gynecomastia; infertility; reduced muscle mass; tall stature; learning difficulties; reduced facial and body hair
Root Cause:
A genetic condition caused by an extra X chromosome (47,XXY), leading to testicular dysfunction and reduced testosterone production.
How it's Diagnosed: videos
Karyotype analysis, hormone levels (low testosterone, high LH, and FSH), and semen analysis.
Treatment:
Testosterone replacement therapy for hypogonadism, fertility counseling (testicular sperm extraction may be possible), and educational/psychological support.
Medications:
Testosterone replacement therapy using injections, gels, or patches. No cure for the chromosomal abnormality itself.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 500 to 1 in 1,000 live male births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Genetic condition; not inherited but occurs as a random chromosomal error.
Prognosis:
The expected outcome or course of the condition over time.
With treatment, patients can manage symptoms; fertility is often impaired but assisted reproductive technologies may help.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Osteoporosis, cardiovascular disease, breast cancer, psychological issues.
Gynecomastia
Specialty: Diabetes and Endocrinology
Category: Reproductive Endocrinology
Sub-category: Male Disorders
Symptoms:
breast enlargement; tenderness in breast tissue; firm glandular tissue under the nipple
Root Cause:
Imbalance between estrogen and testosterone levels; may be physiological, medication-induced, or associated with underlying conditions.
How it's Diagnosed: videos
Physical examination, hormone level tests (testosterone, estrogen, LH, FSH, prolactin), and imaging (ultrasound or mammography).
Treatment:
Treat underlying cause, discontinue causative drugs, hormone therapy, or surgical reduction in severe cases.
Medications:
Tamoxifen or raloxifene (selective estrogen receptor modulators) can reduce breast tissue. Aromatase inhibitors (e.g., anastrozole ) may also be used.
Prevalence:
How common the health condition is within a specific population.
Common in adolescent boys (up to 70% experience temporary gynecomastia), older men, and newborns.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Obesity, aging, certain medications (e.g., spironolactone, anabolic steroids), liver or kidney disease, hyperthyroidism.
Prognosis:
The expected outcome or course of the condition over time.
Often resolves spontaneously in adolescents; treatable with medication or surgery in persistent cases.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Psychological distress, rarely breast cancer.
Androgen Insensitivity Syndrome (AIS)
Specialty: Diabetes and Endocrinology
Category: Reproductive Endocrinology
Sub-category: Male Disorders
Symptoms:
female external genitalia in complete ais; partial masculinization in partial ais; undescended testes; infertility
Root Cause:
Genetic mutation in the androgen receptor gene leading to partial or complete inability of cells to respond to androgens.
How it's Diagnosed: videos
Karyotype analysis (46,XY), hormone tests (elevated testosterone, LH), genetic testing for androgen receptor mutations.
Treatment:
Hormone therapy (estrogen replacement after gonadectomy in complete AIS), surgical correction if needed, and psychological support.
Medications:
Estrogen therapy post-gonadectomy; no medications directly address androgen insensitivity.
Prevalence:
How common the health condition is within a specific population.
Rare, affecting 1 in 20,000–64,000 births.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
X-linked recessive genetic mutation; occurs spontaneously or inherited.
Prognosis:
The expected outcome or course of the condition over time.
With proper management, individuals can live healthy lives, though infertility is typical.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Gonadal tumors, psychological challenges related to gender identity, infertility.
Infertility (Endocrine Causes)
Specialty: Diabetes and Endocrinology
Category: Reproductive Endocrinology
Sub-category: Other Reproductive Endocrine Conditions
Symptoms:
irregular menstrual cycles; absent ovulation; decreased libido; abnormal hormone levels; difficulty conceiving after one year of unprotected intercourse
Root Cause:
Hormonal imbalances affecting ovulation, sperm production, or reproductive organ function; may involve conditions like polycystic ovary syndrome (PCOS), thyroid disorders, or hyperprolactinemia.
How it's Diagnosed: videos
Hormonal blood tests (FSH, LH, estradiol, testosterone, TSH, prolactin), ultrasound to assess ovaries and uterus, semen analysis, and evaluation of medical and reproductive history.
Treatment:
Hormonal therapies (e.g., clomiphene citrate, gonadotropins), assisted reproductive technologies (IVF, IUI), surgery for anatomical issues, or treatment of underlying endocrine disorders (e.g., thyroid replacement or prolactin inhibitors).
Medications:
Clomiphene citrate (a selective estrogen receptor modulator), gonadotropins (FSH, LH), letrozole (an aromatase inhibitor), bromocriptine or cabergoline (dopamine agonists for hyperprolactinemia), levothyroxine (for hypothyroidism), metformin (to manage insulin resistance in PCOS).
Prevalence:
How common the health condition is within a specific population.
Affects approximately 10-15% of couples worldwide; endocrine causes are responsible for 30-40% of infertility cases.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of endocrine disorders, obesity, advanced maternal age, lifestyle factors (smoking, excessive alcohol), chronic stress.
Prognosis:
The expected outcome or course of the condition over time.
Highly variable depending on the underlying cause; many cases can be treated effectively with medications or assisted reproductive technologies.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Psychological stress, strain on relationships, risk of ovarian hyperstimulation syndrome (OHSS) from fertility treatments, multiple pregnancies with assisted reproductive techniques.
Delayed Puberty
Specialty: Diabetes and Endocrinology
Category: Pediatric Endocrinology
Sub-category: Growth and Development Disorders
Symptoms:
absence of breast development by age 13 in girls; no testicular enlargement by age 14 in boys; short stature; immature physical appearance compared to peers
Root Cause:
Often due to insufficient gonadotropin secretion (hypogonadotropic hypogonadism), primary gonadal failure, chronic illnesses, or nutritional deficiencies.
How it's Diagnosed: videos
Bone age assessment via X-ray, hormonal testing (FSH, LH, testosterone/estradiol), genetic testing, MRI of the brain to rule out hypothalamic-pituitary abnormalities.
Treatment:
Hormone replacement therapy (estrogen or testosterone), treatment of underlying conditions (e.g., nutritional supplementation, managing chronic disease).
Medications:
Testosterone injections or patches (androgen replacement), estradiol patches or oral pills (estrogen replacement), gonadotropins for specific cases of hypogonadotropic hypogonadism.
Prevalence:
How common the health condition is within a specific population.
Approximately 2% of adolescents experience delayed puberty, more common in boys than girls.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of delayed puberty, chronic illnesses (e.g., Crohn’s disease, cystic fibrosis), malnutrition, genetic conditions (e.g., Turner syndrome, Klinefelter syndrome).
Prognosis:
The expected outcome or course of the condition over time.
Most cases of constitutional delay resolve naturally; those due to treatable underlying conditions have good outcomes with appropriate intervention.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Psychosocial distress, low self-esteem, delayed bone maturation and reduced peak bone mass, infertility if untreated.
Precocious Puberty
Specialty: Diabetes and Endocrinology
Category: Pediatric Endocrinology
Sub-category: Growth and Development Disorders
Symptoms:
early development of secondary sexual characteristics before age 8 in girls or age 9 in boys; rapid growth; advanced bone age; early onset menstruation in girls; deepened voice in boys
Root Cause:
Premature activation of the hypothalamic-pituitary-gonadal axis (central precocious puberty) or excess sex steroid production from adrenal or gonadal sources (peripheral precocious puberty).
How it's Diagnosed: videos
Hormonal blood tests (FSH, LH, estradiol, testosterone), GnRH stimulation test, imaging studies (MRI of the brain, ultrasound of ovaries/testes), bone age assessment.
Treatment:
GnRH analogs to suppress premature puberty in central cases, addressing underlying tumors or hormonal disorders in peripheral cases.
Medications:
Leuprolide (a GnRH agonist), histrelin implant (GnRH agonist), medroxyprogesterone acetate for temporary hormonal suppression.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 5,000-10,000 children; more common in girls.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of precocious puberty, central nervous system lesions, obesity, exposure to exogenous hormones.
Prognosis:
The expected outcome or course of the condition over time.
Favorable with early diagnosis and treatment; untreated cases may lead to short stature due to early closure of growth plates.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Psychological distress, reduced adult height, potential fertility issues, risk of underlying tumors in certain cases.
Insulinoma
Specialty: Diabetes and Endocrinology
Category: Pancreatic Endocrine Disorders
Sub-category: Hypoglycemia (Non-Diabetes Related)
Symptoms:
episodes of confusion; dizziness; weakness; sweating; palpitations; hunger; blurred vision; loss of consciousness
Root Cause:
A benign tumor of the pancreatic beta cells that produces excessive insulin, causing recurrent hypoglycemia.
How it's Diagnosed: videos
Clinical suspicion based on symptoms, confirmed by a supervised 72-hour fasting test demonstrating hypoglycemia with inappropriately high insulin levels, C-peptide, and proinsulin. Imaging (CT, MRI, or endoscopic ultrasound) is used to localize the tumor.
Treatment:
Surgical removal of the tumor is the primary treatment. In non-surgical cases, medical management focuses on controlling hypoglycemia.
Medications:
Diazoxide (reduces insulin secretion, potassium channel activator) and somatostatin analogs like octreotide (inhibit insulin release).
Prevalence:
How common the health condition is within a specific population.
Insulinomas are rare, with an estimated incidence of 1-4 cases per million people annually.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Associated with multiple endocrine neoplasia type 1 (MEN1) syndrome, though most cases are sporadic.
Prognosis:
The expected outcome or course of the condition over time.
Excellent with surgical removal; the majority of insulinomas are benign and curable. Rare malignant cases may require additional therapies.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Severe recurrent hypoglycemia leading to seizures, neurological damage, or death if untreated.
Reactive Hypoglycemia
Specialty: Diabetes and Endocrinology
Category: Pancreatic Endocrine Disorders
Sub-category: Hypoglycemia (Non-Diabetes Related)
Symptoms:
shakiness; sweating; palpitations; hunger; anxiety; confusion; drowsiness; fatigue
Root Cause:
Excessive insulin release following a meal, leading to a drop in blood glucose levels within a few hours after eating.
How it's Diagnosed: videos
Based on symptoms occurring 2-4 hours post-meal and resolved with carbohydrate intake. Mixed meal tolerance test (MMTT) or continuous glucose monitoring (CGM) may confirm diagnosis.
Treatment:
Dietary modifications, including frequent small meals, low glycemic index foods, and balanced macronutrient intake. In rare severe cases, medications may be used.
Medications:
Acarbose (alpha-glucosidase inhibitor to slow carbohydrate absorption) and in experimental settings, diazoxide to reduce insulin secretion.
Prevalence:
How common the health condition is within a specific population.
Common but underdiagnosed; exact prevalence unknown as many cases are self-limited and not reported.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
History of gastric surgery (e.g., Roux-en-Y gastric bypass), prediabetes, or other conditions affecting glucose metabolism.
Prognosis:
The expected outcome or course of the condition over time.
Typically manageable with dietary adjustments; long-term outcomes are excellent in most cases.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
If untreated, frequent hypoglycemia can lead to weight gain due to compensatory eating and impact quality of life.
Hyperinsulinism
Specialty: Diabetes and Endocrinology
Category: Pancreatic Endocrine Disorders
Symptoms:
hypoglycemia (low blood sugar); dizziness; sweating; shaking; confusion; blurred vision; seizures; loss of consciousness
Root Cause:
Excessive secretion of insulin from the pancreas, often due to a tumor (insulinoma), genetic mutations affecting insulin regulation, or overcompensation for insulin resistance.
How it's Diagnosed: videos
Blood tests (glucose, insulin, and C-peptide levels during hypoglycemia), fasting tests, imaging studies (CT, MRI, or PET scans), and genetic testing in congenital cases.
Treatment:
Dietary management, surgery (if caused by an insulinoma), or medications to regulate insulin secretion.
Medications:
Diazoxide (a potassium channel opener that inhibits insulin secretion) or octreotide (a somatostatin analog to suppress insulin release).
Prevalence:
How common the health condition is within a specific population.
Rare; congenital forms are more common in neonates, while insulinomas occur in about 1-4 per million people annually.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of congenital hyperinsulinism, genetic mutations, or conditions like MEN1 syndrome.
Prognosis:
The expected outcome or course of the condition over time.
Depends on the cause; manageable with treatment but severe hypoglycemia can lead to long-term complications if not addressed.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Recurrent hypoglycemia leading to seizures, brain damage, or developmental delays (in infants).
Glucagonoma
Specialty: Diabetes and Endocrinology
Category: Pancreatic Endocrine Disorders
Symptoms:
skin rash (necrolytic migratory erythema); unexplained weight loss; diabetes; diarrhea; deep vein thrombosis; anemia; glossitis
Root Cause:
Excessive secretion of glucagon due to a tumor in the alpha cells of the pancreas.
How it's Diagnosed: videos
Blood tests (elevated glucagon levels), imaging (CT, MRI, or somatostatin receptor imaging), and biopsy of the tumor.
Treatment:
Surgery to remove the tumor, somatostatin analogs to control symptoms, and supportive care for associated diabetes and nutritional deficiencies.
Medications:
Octreotide or lanreotide (somatostatin analogs that reduce glucagon secretion).
Prevalence:
How common the health condition is within a specific population.
Extremely rare; incidence is estimated at less than 1 per 20 million people annually.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Often occurs sporadically but can be associated with multiple endocrine neoplasia type 1 (MEN1).
Prognosis:
The expected outcome or course of the condition over time.
Poor if left untreated due to the risk of metastasis, but surgical removal can improve outcomes significantly.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Metastatic spread, diabetes, nutritional deficiencies, and thrombosis.
Somatostatinoma
Specialty: Diabetes and Endocrinology
Category: Pancreatic Endocrine Disorders
Symptoms:
diabetes; gallstones; steatorrhea (fatty stools); abdominal pain; weight loss; diarrhea; nausea
Root Cause:
Overproduction of somatostatin, usually due to a rare neuroendocrine tumor in the pancreas or duodenum, leading to inhibition of other hormone secretions.
How it's Diagnosed: videos
Blood tests (elevated somatostatin levels), imaging studies (CT, MRI, or octreotide scans), and biopsy of the tumor.
Treatment:
Surgical resection of the tumor, somatostatin analogs for symptom control, and supportive therapy for nutritional issues.
Medications:
Somatostatin analogs such as octreotide or lanreotide may be used to manage symptoms.
Prevalence:
How common the health condition is within a specific population.
Extremely rare; incidence is estimated to be less than 1 per million people annually.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Often sporadic but may be associated with genetic syndromes like MEN1 or von Hippel-Lindau disease.
Prognosis:
The expected outcome or course of the condition over time.
Variable; early detection and treatment improve outcomes, but metastatic disease has a poor prognosis.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Metastasis, severe malnutrition due to malabsorption, and hormonal imbalances.
Familial Hypercholesterolemia (FH)
Specialty: Diabetes and Endocrinology
Category: Metabolic Disorders
Sub-category: Dyslipidemia
Symptoms:
tendon xanthomas; xanthelasma; early corneal arcus; premature cardiovascular disease (e.g., heart attacks in young adults)
Root Cause:
Genetic mutations in LDL receptor, apolipoprotein B, or PCSK9 result in reduced clearance of LDL cholesterol from the blood.
How it's Diagnosed: videos
Blood lipid profile showing very high LDL cholesterol levels, genetic testing for mutations, and family history of premature cardiovascular disease.
Treatment:
Aggressive LDL-lowering therapy, including medications and sometimes LDL apheresis. Lifestyle changes are supportive.
Medications:
High-intensity statins (e.g., atorvastatin , rosuvastatin ) are first-line. PCSK9 inhibitors (e.g., evolocumab , alirocumab ) are often added. Ezetimibe and bile acid sequestrants may also be used. LDL apheresis may be required in severe cases.
Prevalence:
How common the health condition is within a specific population.
Affects 1 in 250 individuals worldwide; homozygous FH is rarer, occurring in 1 in 1 million people.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Inherited autosomal dominant condition; risk factors exacerbate outcomes, including poor diet, smoking, and sedentary lifestyle.
Prognosis:
The expected outcome or course of the condition over time.
Without treatment, most individuals develop cardiovascular disease by their 30s-40s (heterozygous) or even earlier (homozygous). With treatment, prognosis improves significantly.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Severe atherosclerosis, early-onset coronary artery disease, myocardial infarction, stroke, and aortic stenosis.
Obesity (Endocrine-Related)
Specialty: Diabetes and Endocrinology
Category: Metabolic Disorders
Sub-category: Obesity and Metabolic Syndrome
Symptoms:
excessive body fat; difficulty losing weight; fatigue; shortness of breath; joint pain; snoring or sleep apnea; insulin resistance
Root Cause:
Chronic imbalance between calorie intake and energy expenditure influenced by genetic, hormonal, and environmental factors, including abnormalities in the hypothalamic-pituitary axis, leptin resistance, and insulin dysregulation.
How it's Diagnosed: videos
Diagnosis is based on BMI ≥30 kg/m², waist circumference, body fat percentage, and associated comorbidities (e.g., type 2 diabetes, hypertension). Blood tests may assess insulin resistance, lipid profile, thyroid function, and cortisol levels.
Treatment:
Lifestyle interventions (diet and exercise), behavior modification programs, pharmacotherapy, and bariatric surgery for severe cases. Treatment plans are personalized based on comorbid conditions and underlying factors.
Medications:
Medications prescribed for obesity include orlistat (lipase inhibitor), liraglutide (GLP-1 receptor agonist), and semaglutide (GLP-1 receptor agonist). Other options may include phentermine-topiramate (appetite suppressant) or naltrexone-bupropion (combination therapy for appetite and reward system modulation).
Prevalence:
How common the health condition is within a specific population.
Over 1 billion adults worldwide are affected; the prevalence is rising globally due to sedentary lifestyles and high-calorie diets.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Genetic predisposition, sedentary lifestyle, high-calorie diet, hormonal disorders (e.g., hypothyroidism, Cushing's syndrome), certain medications (e.g., antipsychotics, corticosteroids), and socioeconomic factors.
Prognosis:
The expected outcome or course of the condition over time.
With appropriate intervention, weight loss and risk reduction for comorbid conditions are achievable. Long-term success depends on adherence to lifestyle and treatment plans.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Type 2 diabetes, cardiovascular disease, hypertension, sleep apnea, osteoarthritis, non-alcoholic fatty liver disease (NAFLD), certain cancers, and reduced life expectancy.
Hyperuricemia and Gout (Endocrine-Related)
Specialty: Diabetes and Endocrinology
Category: Metabolic Disorders
Sub-category: Other Metabolic Conditions
Symptoms:
severe joint pain, often in the big toe; redness and swelling of affected joints; warmth and tenderness in joints; limited range of motion; tophi (deposits of uric acid crystals) in chronic cases
Root Cause:
Excess uric acid in the blood due to overproduction or underexcretion of uric acid, often associated with metabolic dysfunctions. Uric acid crystals deposit in joints and tissues, causing inflammation and pain.
How it's Diagnosed: videos
Diagnosis includes blood tests to measure uric acid levels, synovial fluid analysis to identify uric acid crystals, and imaging (X-ray, ultrasound, or dual-energy CT) to detect crystal deposits.
Treatment:
Lifestyle changes such as dietary modifications (low-purine diet), weight loss, and limiting alcohol intake; medications for acute attacks and long-term management.
Medications:
Medications include nonsteroidal anti-inflammatory drugs (NSAIDs) like ibuprofen or naproxen for pain, colchicine for acute attacks, and corticosteroids for severe inflammation. Long-term management may involve uricosuric agents like probenecid to increase uric acid excretion or xanthine oxidase inhibitors like allopurinol and febuxostat to reduce uric acid production.
Prevalence:
How common the health condition is within a specific population.
Affects about 4% of adults globally, more common in men and postmenopausal women.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history, obesity, high-purine diet, excessive alcohol consumption, certain medications (e.g., diuretics), chronic kidney disease, and metabolic syndrome.
Prognosis:
The expected outcome or course of the condition over time.
With proper management, acute attacks can be controlled, and long-term complications prevented. However, untreated hyperuricemia may lead to chronic gout, joint damage, and kidney stones.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Chronic gout, joint deformities, kidney stones, and uric acid nephropathy.
Lipodystrophy (Abnormal Fat Distribution)
Specialty: Diabetes and Endocrinology
Category: Metabolic Disorders
Sub-category: Other Metabolic Conditions
Symptoms:
loss of subcutaneous fat in some areas; accumulation of fat in other areas (e.g., face, neck, abdomen); insulin resistance; high triglycerides; muscle hypertrophy in affected areas; leptin deficiency symptoms like excessive hunger and metabolic dysfunction
Root Cause:
A disorder in fat metabolism resulting in abnormal fat distribution, caused by genetic mutations, autoimmune conditions, or certain medications (e.g., antiretroviral therapy). This affects adipose tissue function, leading to insulin resistance and metabolic complications.
How it's Diagnosed: videos
Physical examination, blood tests (lipid profile, insulin resistance markers, leptin levels), genetic testing for hereditary forms, and imaging studies like MRI or CT for fat distribution analysis.
Treatment:
Lifestyle interventions like diet and exercise; leptin replacement therapy (metreleptin) for leptin-deficient cases; treatment of metabolic complications (e.g., diabetes, dyslipidemia) with medications.
Medications:
Metreleptin , a leptin analog, is used for leptin deficiency. Insulin sensitizers like metformin and thiazolidinediones can improve insulin resistance. Statins or fibrates manage dyslipidemia. Omega-3 fatty acids are used for hypertriglyceridemia.
Prevalence:
How common the health condition is within a specific population.
Rare, with an estimated prevalence of 1-4 cases per million people; more common in women for some forms.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Genetic predisposition, autoimmune disorders, prolonged use of certain medications (e.g., HIV antiretroviral therapy).
Prognosis:
The expected outcome or course of the condition over time.
Management can mitigate metabolic complications, but patients require lifelong monitoring. Prognosis depends on the severity of associated metabolic issues.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Severe insulin resistance, diabetes, cardiovascular disease, pancreatitis from hypertriglyceridemia, and liver steatosis or cirrhosis.
MEN Type 1 - Hypercalcemia
Specialty: Diabetes and Endocrinology
Category: Rare Endocrine Disorders
Sub-category: Multiple Endocrine Neoplasia (MEN) Syndromes
Symptoms:
fatigue; kidney stones; bone pain; abdominal pain
Root Cause:
Genetic mutation in the MEN1 gene leads to tumor formation in endocrine glands (parathyroid, pituitary, pancreas).
How it's Diagnosed: videos
Genetic testing for MEN1 mutation. Hormonal blood tests (calcium, PTH, prolactin, growth hormone, insulin). Imaging studies (MRI or CT scans of the pituitary, pancreas, and parathyroid glands).
Treatment:
Surgical removal of tumors (e.g., parathyroidectomy, pituitary surgery). Medical management for hormone overproduction (e.g., somatostatin analogs for pancreatic tumors). Regular monitoring for tumor progression.
Medications:
Calcimimetics (e.g., cinacalcet ) for hyperparathyroidism. Dopamine agonists (e.g., cabergoline , bromocriptine ) for prolactinomas. Somatostatin analogs (e.g., octreotide , lanreotide ) for pancreatic neuroendocrine tumors. Proton pump inhibitors (e.g., omeprazole ) for gastrinomas.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 30,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of MEN1 syndrome, autosomal dominant inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Generally good with early detection and treatment, though tumor recurrence is possible; life expectancy may be reduced without management.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Recurrent or metastatic tumors. Severe hypercalcemia leading to kidney damage. Hormonal crises, such as insulinoma-induced hypoglycemia.
MEN Type 1 - Pituitary Adenoma
Specialty: Diabetes and Endocrinology
Category: Rare Endocrine Disorders
Sub-category: Multiple Endocrine Neoplasia (MEN) Syndromes
Symptoms:
headaches; vision problems; hormonal imbalances
Root Cause:
Genetic mutation in the MEN1 gene leads to tumor formation in endocrine glands (parathyroid, pituitary, pancreas).
How it's Diagnosed: videos
Genetic testing for MEN1 mutation. Hormonal blood tests (calcium, PTH, prolactin, growth hormone, insulin). Imaging studies (MRI or CT scans of the pituitary, pancreas, and parathyroid glands).
Treatment:
Surgical removal of tumors (e.g., parathyroidectomy, pituitary surgery). Medical management for hormone overproduction (e.g., somatostatin analogs for pancreatic tumors). Regular monitoring for tumor progression.
Medications:
Calcimimetics (e.g., cinacalcet ) for hyperparathyroidism. Dopamine agonists (e.g., cabergoline , bromocriptine ) for prolactinomas. Somatostatin analogs (e.g., octreotide , lanreotide ) for pancreatic neuroendocrine tumors. Proton pump inhibitors (e.g., omeprazole ) for gastrinomas.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 30,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of MEN1 syndrome, autosomal dominant inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Generally good with early detection and treatment, though tumor recurrence is possible; life expectancy may be reduced without management.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Recurrent or metastatic tumors. Severe hypercalcemia leading to kidney damage. Hormonal crises, such as insulinoma-induced hypoglycemia.
MEN Type 1 - Pancreatic Neuroendocrine Tumor
Specialty: Diabetes and Endocrinology
Category: Rare Endocrine Disorders
Sub-category: Multiple Endocrine Neoplasia (MEN) Syndromes
Symptoms:
hypoglycemia; diarrhea; peptic ulcers
Root Cause:
Genetic mutation in the MEN1 gene leads to tumor formation in endocrine glands (parathyroid, pituitary, pancreas).
How it's Diagnosed: videos
Genetic testing for MEN1 mutation. Hormonal blood tests (calcium, PTH, prolactin, growth hormone, insulin). Imaging studies (MRI or CT scans of the pituitary, pancreas, and parathyroid glands).
Treatment:
Surgical removal of tumors (e.g., parathyroidectomy, pituitary surgery). Medical management for hormone overproduction (e.g., somatostatin analogs for pancreatic tumors). Regular monitoring for tumor progression.
Medications:
Calcimimetics (e.g., cinacalcet ) for hyperparathyroidism. Dopamine agonists (e.g., cabergoline , bromocriptine ) for prolactinomas. Somatostatin analogs (e.g., octreotide , lanreotide ) for pancreatic neuroendocrine tumors. Proton pump inhibitors (e.g., omeprazole ) for gastrinomas.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 30,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of MEN1 syndrome, autosomal dominant inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Generally good with early detection and treatment, though tumor recurrence is possible; life expectancy may be reduced without management.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Recurrent or metastatic tumors. Severe hypercalcemia leading to kidney damage. Hormonal crises, such as insulinoma-induced hypoglycemia.
MEN Type 2 - Medullary Thyroid Cancer
Specialty: Diabetes and Endocrinology
Category: Rare Endocrine Disorders
Sub-category: Multiple Endocrine Neoplasia (MEN) Syndromes
Symptoms:
neck lump; difficulty swallowing; hoarseness
Root Cause:
Mutation in the RET proto-oncogene causes tumor formation in thyroid C-cells, adrenal medulla, and parathyroid glands.
How it's Diagnosed: videos
Genetic testing for RET mutations. Serum calcitonin and carcinoembryonic antigen (CEA) levels for medullary thyroid cancer. Plasma or urine metanephrines for pheochromocytoma. Imaging (ultrasound, CT, or MRI) for tumors.
Treatment:
Total thyroidectomy for medullary thyroid cancer (often prophylactic in high-risk patients). Adrenalectomy for pheochromocytoma. Medical management for blood pressure control in pheochromocytoma (alpha and beta-blockers). Regular follow-ups for new tumor formation.
Medications:
Alpha-blockers (e.g., phenoxybenzamine ) to control blood pressure in pheochromocytoma. Beta-blockers (e.g., propranolol ) used after alpha-blockade to stabilize cardiovascular symptoms. Thyroid hormone replacement (e.g., levothyroxine ) post-thyroidectomy. Calcimimetics (e.g., cinacalcet ) for hyperparathyroidism.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 35,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of MEN2 syndrome, autosomal dominant inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Excellent with early prophylactic thyroidectomy; pheochromocytoma and parathyroid tumors require ongoing management for optimal outcomes.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Untreated pheochromocytoma can cause hypertensive crises and cardiovascular complications. Advanced medullary thyroid cancer may lead to metastasis. Persistent hyperparathyroidism can result in long-term kidney damage.
MEN Type 2 - Pheochromocytoma
Specialty: Diabetes and Endocrinology
Category: Rare Endocrine Disorders
Sub-category: Multiple Endocrine Neoplasia (MEN) Syndromes
Symptoms:
episodic high blood pressure; headaches; sweating; palpitations
Root Cause:
Mutation in the RET proto-oncogene causes tumor formation in thyroid C-cells, adrenal medulla, and parathyroid glands.
How it's Diagnosed: videos
Genetic testing for RET mutations. Serum calcitonin and carcinoembryonic antigen (CEA) levels for medullary thyroid cancer. Plasma or urine metanephrines for pheochromocytoma. Imaging (ultrasound, CT, or MRI) for tumors.
Treatment:
Total thyroidectomy for medullary thyroid cancer (often prophylactic in high-risk patients). Adrenalectomy for pheochromocytoma. Medical management for blood pressure control in pheochromocytoma (alpha and beta-blockers). Regular follow-ups for new tumor formation.
Medications:
Alpha-blockers (e.g., phenoxybenzamine ) to control blood pressure in pheochromocytoma. Beta-blockers (e.g., propranolol ) used after alpha-blockade to stabilize cardiovascular symptoms. Thyroid hormone replacement (e.g., levothyroxine ) post-thyroidectomy. Calcimimetics (e.g., cinacalcet ) for hyperparathyroidism.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 35,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of MEN2 syndrome, autosomal dominant inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Excellent with early prophylactic thyroidectomy; pheochromocytoma and parathyroid tumors require ongoing management for optimal outcomes.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Untreated pheochromocytoma can cause hypertensive crises and cardiovascular complications. Advanced medullary thyroid cancer may lead to metastasis. Persistent hyperparathyroidism can result in long-term kidney damage.
MEN Type 2 - Hyperparathyroidism
Specialty: Diabetes and Endocrinology
Category: Rare Endocrine Disorders
Sub-category: Multiple Endocrine Neoplasia (MEN) Syndromes
Symptoms:
hypercalcemia; kidney stones
Root Cause:
Mutation in the RET proto-oncogene causes tumor formation in thyroid C-cells, adrenal medulla, and parathyroid glands.
How it's Diagnosed: videos
Genetic testing for RET mutations. Serum calcitonin and carcinoembryonic antigen (CEA) levels for medullary thyroid cancer. Plasma or urine metanephrines for pheochromocytoma. Imaging (ultrasound, CT, or MRI) for tumors.
Treatment:
Total thyroidectomy for medullary thyroid cancer (often prophylactic in high-risk patients). Adrenalectomy for pheochromocytoma. Medical management for blood pressure control in pheochromocytoma (alpha and beta-blockers). Regular follow-ups for new tumor formation.
Medications:
Alpha-blockers (e.g., phenoxybenzamine ) to control blood pressure in pheochromocytoma. Beta-blockers (e.g., propranolol ) used after alpha-blockade to stabilize cardiovascular symptoms. Thyroid hormone replacement (e.g., levothyroxine ) post-thyroidectomy. Calcimimetics (e.g., cinacalcet ) for hyperparathyroidism.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 35,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of MEN2 syndrome, autosomal dominant inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Excellent with early prophylactic thyroidectomy; pheochromocytoma and parathyroid tumors require ongoing management for optimal outcomes.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Untreated pheochromocytoma can cause hypertensive crises and cardiovascular complications. Advanced medullary thyroid cancer may lead to metastasis. Persistent hyperparathyroidism can result in long-term kidney damage.
Carcinoid Syndrome
Specialty: Diabetes and Endocrinology
Category: Rare Endocrine Disorders
Symptoms:
flushing of the skin; diarrhea; abdominal cramping; heart palpitations; shortness of breath; wheezing; weight loss; skin lesions; edema; carcinoid heart disease (in advanced cases)
Root Cause:
Excessive secretion of serotonin and other vasoactive substances by carcinoid tumors, usually arising in the gastrointestinal tract or lungs.
How it's Diagnosed: videos
Diagnosed through elevated 24-hour urinary 5-HIAA levels and imaging to locate neuroendocrine tumors.
Treatment:
Treatment includes somatostatin analogs (e.g., octreotide), symptom control, and surgical resection or targeted therapies for tumor management.
Medications:
Somatostatin analogs (e.g., octreotide or lanreotide )
Prevalence:
How common the health condition is within a specific population.
Rare; affects approximately 1-2 individuals per 100,000 annually.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of neuroendocrine tumors, conditions like MEN1 syndrome, smoking, and previous cancer diagnoses.
Prognosis:
The expected outcome or course of the condition over time.
Variable depending on the extent of disease; with localized tumors, 5-year survival exceeds 80%, but metastatic disease lowers survival rates to approximately 30%-50%.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Carcinoid heart disease (fibrotic damage to heart valves). Intestinal obstruction or bleeding from primary tumors. Severe malnutrition due to chronic diarrhea. Hormone crisis during tumor manipulation or anesthesia.
Ectopic ACTH Syndrome
Specialty: Diabetes and Endocrinology
Category: Rare Endocrine Disorders
Sub-category: Ectopic Hormone Secretion Syndromes
Symptoms:
weight gain; muscle weakness; high blood pressure; hyperglycemia; bruising; thin skin; osteoporosis; mood changes; round face (moon facies); abdominal striae (stretch marks)
Root Cause:
Abnormal secretion of adrenocorticotropic hormone (ACTH) by non-pituitary tumors, leading to excessive cortisol production. Commonly associated with small cell lung cancer or other neuroendocrine tumors.
How it's Diagnosed: videos
Laboratory tests to measure ACTH and cortisol levels, high-dose dexamethasone suppression test, imaging studies (CT, MRI, PET scans) to identify the tumor source, and inferior petrosal sinus sampling to differentiate ectopic from pituitary ACTH production.
Treatment:
Surgical removal of the ACTH-secreting tumor, medical therapy to control cortisol levels, radiation therapy, and/or chemotherapy if surgery is not feasible.
Medications:
Medications to manage cortisol levels include metyrapone (steroidogenesis inhibitor), ketoconazole (antifungal with cortisol-lowering effects), or mitotane (adrenolytic agent). In severe cases, mifepristone (glucocorticoid receptor antagonist) may be used to block cortisol effects.
Prevalence:
How common the health condition is within a specific population.
Rare, occurring in approximately 10–20% of cases of Cushing syndrome.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Presence of certain cancers (e.g., small cell lung cancer, pancreatic neuroendocrine tumors), genetic predisposition to endocrine tumors.
Prognosis:
The expected outcome or course of the condition over time.
Prognosis depends on the underlying tumor type, stage, and response to treatment. Early diagnosis and tumor removal significantly improve outcomes.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Long-term hypercortisolism can lead to cardiovascular disease, diabetes, infections, osteoporosis, and psychological disorders.