Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc.

ABSTRACT:

Context

Mitochondrial cytochrome P450scc converts cholesterol to pregnenolone in all steroidogenic tissues. Although progesterone production from the fetally-derived placenta is necessary to maintain pregnancy to term, four patients with mutations in the gene encoding P450scc (CYP11A1), have been described, one in a 46,XX female and three in underandrogenized 46,XY individuals, all with primary adrenal failure.

Objective

Our aim was to determine whether P450scc mutations might be found in other children and to explore genotype/phenotype correlations.

Methods and patients

We performed mutational analysis of CYP11A1 in individuals with 46,XY disorders of sex development and primary adrenal failure, followed by functional studies of P450scc activity and of P450scc RNA sp

SUBMITTER: Kim CJ 

PROVIDER: S-EPMC2266942 | biostudies-literature | 2008 Mar

REPOSITORIES: biostudies-literature