Searchable abstracts of presentations at key conferences in endocrinology

ea0025oc2.5 | Steroids | SFEBES2011

A novel entity of isolated adrenal insufficiency caused by partial inactivation of P450 side-chain cleavage (CYP11A1) enzyme

Parajes Silvia , Kamrath Clemens , Rose Ian , Taylor Angela , Mooij Christiaan , Dhir Vivek , Grotzinger Joachim , Arlt Wiebke , Krone Nils

Cytochrome P450 side-chain cleavage enzyme (CYP11A1) catalyses the first and rate-limiting step of steroidogenesis, facilitating conversion of cholesterol to pregnenolone. Cholesterol, transported by steroidogenic acute regulatory protein (StAR) into the inner mitochondrial membrane, is converted by CYP11A1 into 22R-hydroxycholesterol. Subsequently, CYP11A1 converts 22R-hydroxycholesterol by 20alpha-hydroxylation and cleavage of the C20–C22 bond into pregnenolone. All pat...