Searchable abstracts of presentations at key conferences in endocrinology

ea0036P3 | (1) | BSPED2014

Aldosterone synthase deficiency due to a novel mutation in CYP11B2

Bhandari Jasjit K , Dattani Mehul T , Nanduri Vasanta

Background: CYP11B2 encodes a steroid 11/18-β-hydroxylase that functions in mitochondria in the zonaglomerulosa of the adrenal cortex to synthesize the mineralocorticoid aldosterone. The enzyme catalyzes three necessary reactions: 11-β-hydroxylation of 11-deoxycorticosterone (11-DOC) to corticosterone, 18-hydroxylation of corticosterone to 18-hydroxycorticosterone (18-OHB); and 18-oxidation of 18-hydroxycorticosterone to aldosterone. Aldosterone synthase (<e...