Condition Lookup
Sub-Category:
Endocrine Disorders
Number of Conditions: 3
Maturity-Onset Diabetes of the Young (MODY)
Specialty: Genetics
Category: Genetic Contributions to Common Diseases
Sub-category: Endocrine Disorders
Symptoms:
mild hyperglycemia; frequent urination; excessive thirst; unintended weight loss; fatigue; blurry vision
Root Cause:
Caused by mutations in single genes (e.g., HNF1A, HNF4A, GCK) that regulate insulin production, leading to beta-cell dysfunction in the pancreas.
How it's Diagnosed: videos
Genetic testing for MODY mutations, fasting glucose tests, HbA1c levels, and family history of early-onset diabetes.
Treatment:
Tailored to the subtype; dietary management, oral medications, or insulin therapy (depending on mutation and severity).
Medications:
Sulfonylureas (e.g., glipizide , gliclazide) are often effective in MODY caused by HNF1A or HNF4A mutations. Insulin may be required for other subtypes. GCK-MODY typically does not require treatment.
Prevalence:
How common the health condition is within a specific population.
Rare; estimated to affect 1–2% of all diabetes cases globally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of early-onset diabetes without typical Type 1 or Type 2 diabetes features, autosomal dominant inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Generally good if correctly diagnosed and treated; untreated, mild hyperglycemia may lead to long-term complications.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Increased risk of cardiovascular disease, kidney damage, retinopathy, and misdiagnosis leading to incorrect treatment.
Multiple Endocrine Neoplasia (MEN)
Specialty: Genetics
Category: Genetic Contributions to Common Diseases
Sub-category: Endocrine Disorders
Symptoms:
hypercalcemia; diarrhea; abdominal pain; flushing; fatigue; palpitations; headaches; unintended weight changes; tumors in endocrine glands
Root Cause:
Caused by genetic mutations (e.g., MEN1, RET) leading to overgrowth of endocrine tissues, which form benign or malignant tumors.
How it's Diagnosed: videos
Blood tests (e.g., hormone levels such as calcium, PTH, or gastrin), imaging (MRI, CT), genetic testing for MEN1 or RET mutations, and family history analysis.
Treatment:
Surgical removal of tumors, monitoring hormone levels, symptomatic management, and targeted therapies for malignant cases.
Medications:
Medications include proton pump inhibitors (PPIs, e.g., omeprazole ) to reduce gastric acid secretion in Zollinger-Ellison syndrome and somatostatin analogs (e.g., octreotide ) for hormone-secreting tumors. Tyrosine kinase inhibitors (e.g., vandetanib ) may be used for medullary thyroid carcinoma.
Prevalence:
How common the health condition is within a specific population.
Rare; MEN1 affects 1 in 30,000 people, while MEN2 affects about 1 in 35,000 people.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of MEN mutations, autosomal dominant inheritance.
Prognosis:
The expected outcome or course of the condition over time.
Varies by subtype and treatment; early detection and management improve outcomes, but malignant forms may have a poorer prognosis.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Cancer (e.g., medullary thyroid carcinoma, pancreatic neuroendocrine tumors), metastasis, organ damage due to hormonal overproduction, and recurrence of tumors.
Congenital Adrenal Hyperplasia (CAH)
Specialty: Genetics
Category: Genetic Contributions to Common Diseases
Sub-category: Endocrine Disorders
Symptoms:
ambiguous genitalia in females; early onset puberty; rapid growth during childhood; short stature in adulthood; low blood pressure; electrolyte imbalances; dehydration; salt cravings
Root Cause:
Mutations in genes like CYP21A2 lead to impaired cortisol production and sometimes aldosterone deficiency, causing adrenal hyperplasia and excess androgen production.
How it's Diagnosed: videos
Newborn screening (17-hydroxyprogesterone levels), hormone assays, genetic testing, and family history.
Treatment:
Lifelong glucocorticoid and mineralocorticoid replacement therapy to normalize hormone levels, surgical correction for ambiguous genitalia (if needed), and salt supplements in severe cases.
Medications:
Common medications include hydrocortisone (glucocorticoid replacement), fludrocortisone (mineralocorticoid replacement), and sodium supplements for salt-wasting types. Dexamethasone or prednisone may be used in older patients.
Prevalence:
How common the health condition is within a specific population.
Affects 1 in 15,000 to 1 in 20,000 live births globally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of CAH, autosomal recessive inheritance.
Prognosis:
The expected outcome or course of the condition over time.
With appropriate treatment, most individuals live normal lives; untreated, severe cases can result in adrenal crises and early mortality.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Adrenal crises, infertility, psychological distress, and metabolic issues (e.g., obesity or osteoporosis) due to prolonged steroid therapy.