Searchable abstracts of presentations at key conferences in endocrinology

ea0015p331 | Steroids | SFEBES2008

Early truncation of the human CYP17A1 protein results in severe neonatal adrenal insufficiency

Ivison Hannah E , Shenoy Savitha , Arlt Felix J , Krone Nils , Shackleton Cedric HL , Taylor Norman F , Arlt Wiebke

CYP17A1 is a key enzyme of human steroidogenesis, which is unique in that it catalyses two reactions, 17-hydroxylase activity converting pregnenolone and progesterone to 17-hydroxypregnenolone (17Preg) and 17-hydroxy-progesterone, respectively, and 17,20 lyase activity, responsible for the conversion of 17Preg to dehydroepiandrosterone the crucial precursor of human sex steroid biosynthesis. 17-hydroxylase deficiency, a variant of congenital adrenal hyperplasia, results in glu...