Condition Lookup
Number of Conditions: 1
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.