Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) is a rare disorder that typically presents in childhood. Affected female infants are most often discovered at birth due to virilized external genitalia, while male infants are diagnosed after newborn screening or, when none is available, during adrenal crisis. CAH is an autosomal recessive disorder with impaired cortisol, and often aldosterone, production, requiring lifelong hormone replacement. Recognizing the presentation and understanding the treatment of CAH are critical to optimize outcomes in affected children.