17α-Hydroxylase/17,20-Lyase Deficiency: From Clinical Investigation to Molecular Definition*

Abstract excerpt

THE term congenital adrenal hyperplasia (CAH) defines a group of syndromes resulting from inherited defects in any one of the five enzymes involved in the steps leading to cortisol biosynthesis from cholesterol. These include four distinct forms of cytochrome P450: P450scc, P450C21, P45011β, and P45017α, as well as 3β- hydroxysteroid dehydrogenase. Pathologically, CAH is characterized by hyperplastic growth of...