Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete

P450scc deficiency is a rare disorder that can present as acute adrenal insufficiency in infancy or childhood. ACTH and plasma renin activity are grossly elevated and adrenal steroids are inappropriately low or absent; the 46,XY patients have female external genitalia, sometimes with clitoromegaly. The phenotypic spectrum ranges from prematurity, complete underandrogenization, and severe early-onset adrenal failure to term birth with clitoromegaly and later-onset adrenal failure (summary by {4:Kim et al., 2008}). Although hormonal and phenotypic features can resemble those of congenital lipoid adrenal hyperplasia (lipoid CAH; {201710}), no patient with P450scc deficiency has been described with the massive adrenal enlargement typical of lipoid CAH (summary by {6:Sahakitrungruang et al., 2011}). Source: Online Mendelian Inheritance in Man