Condition Lookup
Category:
Endocrine Disorders
Number of Conditions: 5
Congenital hypothyroidism
Specialty: Pediatrics
Category: Endocrine Disorders
Sub-category: Thyroid Disorders
Symptoms:
jaundice; poor feeding; lethargy; hoarse cry; constipation; prolonged neonatal jaundice; large anterior fontanelle; macroglossia; puffy face; dry skin; hypotonia
Root Cause:
Underactive or absent thyroid gland at birth, leading to insufficient thyroid hormone production required for normal growth and brain development.
How it's Diagnosed: videos
Diagnosed through newborn screening with elevated TSH and low T4 levels.
Treatment:
Treated with lifelong levothyroxine replacement to ensure normal growth and development.
Medications:
Levothyroxine is prescribed, which is a synthetic thyroid hormone (T4 replacement) used to normalize thyroid hormone levels.
Prevalence:
How common the health condition is within a specific population.
Occurs in approximately 1 in 2,000 to 4,000 live births globally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Female sex, family history of thyroid disorders, iodine deficiency during pregnancy, genetic mutations affecting thyroid development.
Prognosis:
The expected outcome or course of the condition over time.
Excellent with early detection and treatment; normal growth and development can be achieved if treatment begins within the first few weeks of life. Untreated cases can lead to intellectual disability and stunted growth.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Intellectual disability, growth retardation, developmental delays, and permanent neurological impairment if untreated.
Hyperthyroidism (e.g., Graves’ disease)
Specialty: Pediatrics
Category: Endocrine Disorders
Sub-category: Thyroid Disorders
Symptoms:
weight loss despite normal or increased appetite; rapid heartbeat (tachycardia); heat intolerance; tremors; irritability; exophthalmos (protrusion of the eyes); goiter; sweating; diarrhea; sleep disturbances; fatigue
Root Cause:
Overproduction of thyroid hormones due to autoimmune stimulation of the thyroid gland by thyroid-stimulating immunoglobulins (TSIs).
How it's Diagnosed: videos
Diagnosed by low TSH, elevated T4/T3 levels, and thyroid receptor antibodies.
Treatment:
Treated with antithyroid medications (e.g., methimazole), radioactive iodine therapy, or surgery, with beta-blockers to control symptoms.
Medications:
Antithyroid medications - Methimazole (first-line treatment) and propylthiouracil (used in certain cases, such as during the first trimester of pregnancy). Beta-blockers - Propranolol or atenolol to control symptoms such as rapid heartbeat and tremors.
Prevalence:
How common the health condition is within a specific population.
Rare in children; more common in adolescent females. Estimated prevalence is about 1 in 10,000 children.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Female sex, family history of autoimmune thyroid disease, other autoimmune conditions, exposure to iodine excess or deficiency.
Prognosis:
The expected outcome or course of the condition over time.
Good with treatment; remission is possible with antithyroid medication, but relapses can occur. Severe or untreated cases may lead to thyroid storm, a life-threatening complication.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Thyroid storm, heart problems (e.g., arrhythmias, cardiomyopathy), osteoporosis, vision problems, or permanent eye damage in severe exophthalmos.
Adrenal insufficiency (e.g., Addison’s disease)
Specialty: Pediatrics
Category: Endocrine Disorders
Sub-category: Other Endocrine Issues
Symptoms:
fatigue; weight loss; low blood pressure; hyperpigmentation of the skin; abdominal pain; nausea; vomiting; salt cravings; hypoglycemia
Root Cause:
Insufficient production of cortisol and/or aldosterone by the adrenal glands, often due to autoimmune destruction, infection, or adrenal gland damage.
How it's Diagnosed: videos
Blood tests measuring cortisol and ACTH levels, ACTH stimulation test, electrolyte panels, and imaging studies (e.g., CT or MRI of the adrenal glands).
Treatment:
Hormone replacement therapy, including glucocorticoids (e.g., hydrocortisone) and mineralocorticoids (e.g., fludrocortisone), along with lifestyle adjustments and emergency injectable hydrocortisone for adrenal crises.
Medications:
Hydrocortisone or prednisone (glucocorticoids) replace cortisol; fludrocortisone (a mineralocorticoid) replaces aldosterone. Glucocorticoids are corticosteroids, while fludrocortisone is a mineralocorticoid.
Prevalence:
How common the health condition is within a specific population.
Rare, affecting approximately 1 in 10,000 to 20,000 people globally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Autoimmune conditions (e.g., autoimmune polyendocrine syndrome), family history, infections (e.g., tuberculosis), adrenal gland damage due to trauma or surgery.
Prognosis:
The expected outcome or course of the condition over time.
With appropriate treatment, patients can lead normal lives; however, untreated adrenal insufficiency can be life-threatening.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Adrenal crisis (acute life-threatening condition), electrolyte imbalances, hypoglycemia, and increased susceptibility to stress-related illnesses.
Precocious puberty
Specialty: Pediatrics
Category: Endocrine Disorders
Sub-category: Puberty Disorders
Symptoms:
early breast development in girls; early testicular and penile enlargement in boys; rapid growth; early appearance of pubic or underarm hair; acne; body odor
Root Cause:
Early activation of the hypothalamic-pituitary-gonadal (HPG) axis or peripheral causes such as hormone-secreting tumors or exogenous hormone exposure.
How it's Diagnosed: videos
Physical exam, bone age X-ray, hormone level tests (LH, FSH, estradiol, testosterone), GnRH stimulation test, and imaging studies (e.g., MRI or ultrasound) to identify underlying causes.
Treatment:
Treat the underlying cause; GnRH analogs (e.g., leuprolide) are commonly used to delay further puberty progression.
Medications:
Leuprolide or triptorelin (GnRH analogs) suppress the premature activation of the HPG axis. These are classified as gonadotropin-releasing hormone agonists.
Prevalence:
How common the health condition is within a specific population.
Occurs in about 1 in 5,000–10,000 children; more common in girls than boys.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Female gender, obesity, family history of precocious puberty, brain abnormalities (e.g., tumors, trauma, infections), or exposure to sex hormones.
Prognosis:
The expected outcome or course of the condition over time.
Treatment can halt or reverse early pubertal changes, allowing for normal growth and development; untreated, it may lead to short stature and psychosocial challenges.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Short adult height due to early closure of growth plates, psychological distress, and social challenges due to premature physical development.
Delayed puberty
Specialty: Pediatrics
Category: Endocrine Disorders
Sub-category: Puberty Disorders
Symptoms:
lack of breast development in girls by age 13; lack of testicular enlargement in boys by age 14; short stature; delayed or absent pubic hair; absence of menstruation in girls by age 16
Root Cause:
Delay in the activation of the hypothalamic-pituitary-gonadal (HPG) axis, often due to constitutional growth delay, chronic illness, or hormonal deficiencies (e.g., hypogonadism).
How it's Diagnosed: videos
Detailed history, physical exam, bone age X-ray, blood tests (LH, FSH, testosterone, estradiol), and imaging studies (e.g., MRI of the brain or pelvic ultrasound).
Treatment:
Treatment depends on the cause; may include hormone replacement therapy (e.g., testosterone or estrogen) or addressing underlying health conditions.
Medications:
Testosterone injections or patches for boys, and low-dose estrogen therapy (e.g., estradiol patches or oral contraceptives) for girls. Testosterone and estradiol are classified as sex hormones.
Prevalence:
How common the health condition is within a specific population.
Affects about 2% of adolescents; more common in boys.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of delayed puberty, chronic illness (e.g., cystic fibrosis, celiac disease), malnutrition, or hormonal disorders (e.g., Kallmann syndrome).
Prognosis:
The expected outcome or course of the condition over time.
Constitutional growth delay typically resolves without treatment; other causes may require intervention but have a good prognosis if treated appropriately.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Psychosocial challenges, low bone density, and potential infertility if untreated hormonal deficiencies persist.