Ambiguous Genitalia Without Clitoromegaly in a Girl With Classic Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) is an autosomal-recessive disorder characterized by a defect in cortisol biosynthesis with >95% of cases being the result of 21-hydroxylase deficiency. Girls affected with classic 21-hydroxylase deficiency usually present at birth with ambiguous genitalia, including clitoromegaly, labial fusion, and a urogenital sinus. We report a female infant with classic CAH secondary to 21-hydroxylase deficiency in whom clitoromegaly was absent despite other signs of androgen excess.