Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is the most common cause of genital ambiguity in the newborn and is present in about 1 in 15,000 live births worldwide. The disease is further characterized in its classic salt-wasting form (approximately 75% of cases) by potentially lethal adrenal insufficiency. A non-salt-wasting form of classic CAH with 21-hydroxylase deficiency is also recognized by genital ambiguity in affected females and by signs of androgen excess in later childhood in males. Nonclassic CAH with 21-hydroxylase deficiency may be detected in 1% to 3% of populations and is often mistaken for idiopathic precocious pubarche in children or polycystic ovary syndrome in young women. This article presents an overview of clinical and genetic aspects of the various forms of CAH with 21-hydroxylase deficiency.