Article
Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc.
The Journal of clinical endocrinology and metabolism - 1 Mar 2008
Kim Chan Jong, Lin Lin, Huang Ningwu, Quigley Charmian A, AvRuskin Theodore W, Achermann John C, Miller Walter L
Abstract excerpt
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....
Topics
- Adrenal Insufficiency
- Cholesterol Side-Chain Cleavage Enzyme
- Disorders of Sex Development
- Female
- Gonadal Dysgenesis, 46,XY
- Humans
- Mutation