Severe Combined Adrenal and Gonadal Deficiency Caused by Novel Mutations in the Cholesterol Side Chain Cleavage Enzyme, P450scc | Zendy

Chan Jong Kim | Zendy; Lin Lin | Zendy; Ningwu Huang | Zendy; Charmian A. Quigley | Zendy; Theodore W. AvRuskin | Zendy; John C. Achermann | Zendy; Walter L. Miller | Zendy

Open Access

Severe Combined Adrenal and Gonadal Deficiency Caused by Novel Mutations in the Cholesterol Side Chain Cleavage Enzyme, P450scc

Author(s) -

Chan Jong Kim,

Lin Lin,

Ningwu Huang,

Charmian A. Quigley,

Theodore W. AvRuskin,

John C. Achermann,

Walter L. Miller

Publication year - 2008

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2007-2330

Subject(s) - cholesterol side chain cleavage enzyme , pregnenolone , endocrinology , medicine , steroidogenic acute regulatory protein , context (archaeology) , steroidogenic factor 1 , cholesterol , biology , cyp17a1 , cytochrome p450 , chemistry , gene , steroid , genetics , messenger rna , metabolism , hormone , transcription factor , nuclear receptor , paleontology

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.

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