Congenital Adrenal Hyperplasia: Symptoms, Causes, Treatment

Classic disease may require lifelong hormone replacement and emergency planning. Nonclassic forms do not always need the same treatment; symptoms guide specialist decisions.

Related reading: Adrenal insufficiency as a different hormone disorder.

Infants may develop poor feeding, vomiting, dehydration or differences in external genital development. Later presentations include androgen excess, menstrual changes or early growth changes.

Deficient hormone-producing enzymes, most often 21-hydroxylase, cause the disorder. Cortisol, aldosterone and androgen levels vary according to subtype.

Family history and parental gene variants influence inheritance risk. Sex or appearance alone cannot determine subtype or treatment requirements.

Diagnosis uses hormone and electrolyte testing, newborn screening where available, and selected stimulation or genetic tests. Appearance alone cannot establish subtype or salt-wasting severity.

Cortisol and sometimes mineralocorticoid replacement are monitored against growth, blood pressure and hormones. Individual sick-day and emergency plans are essential; some milder cases need no daily treatment.

Salt-wasting crises, growth or fertility problems may occur, while excessive replacement also causes harm. Monitoring balances hormone control and medicine-related effects.

The inherited disorder cannot be prevented; reproductive genetic counseling may help. Carry prescribed medical identification and learn emergency injection use through clinical training.