Congenital Adrenal Hyperplasia (CAH)

Congenital adrenal hyperplasia (CAH) is a group of inherited disorders of adrenal steroid synthesis. More than 95% of cases are caused by 21-hydroxylase deficiency, an autosomal recessive condition. The adrenal glands cannot make enough cortisol and, in the most severe form, cannot make enough aldosterone. The precursors that build up are diverted into adrenal androgen production. For the registered nurse, CAH matters in three settings. In the newborn nursery and neonatal unit, the nurse may notice atypical genitalia or care for an infant whose newborn screen is positive. In the emergency department and paediatric unit, the nurse must recognize a salt-wasting adrenal crisis, which can kill an infant within hours. Across childhood, the nurse teaches families daily medication routines, stress dosing and emergency hydrocortisone injection. Newborn screening panels and timing vary by province and territory. Confirm the local CAH screening pathway; a screening result can arrive after the infant has already become ill, so clinical recognition remains essential.