Varied Clinical Presentations of Seven Patients With Mutations inCYP11A1Encoding the Cholesterol Side-Chain Cleavage Enzyme, P450scc | Zendy

Meng Kian Tee | Zendy; Michal Abramsohn | Zendy; Neta Loewenthal | Zendy; Mark Harris | Zendy; Sudeep Siwach | Zendy; Ana Kaplinsky | Zendy; Barak Markus | Zendy; Ohad S. Birk | Zendy; Val C. Sheffield | Zendy; Ruti Pavari | Zendy; Eli Hershkovitz | Zendy; Walter L. Miller | Zendy

Open Access

Varied Clinical Presentations of Seven Patients With Mutations inCYP11A1Encoding the Cholesterol Side-Chain Cleavage Enzyme, P450scc

Author(s) -

Meng Kian Tee,

Michal Abramsohn,

Neta Loewenthal,

Mark Harris,

Sudeep Siwach,

Ana Kaplinsky,

Barak Markus,

Ohad S. Birk,

Val C. Sheffield,

Ruti Pavari,

Eli Hershkovitz,

Walter L. Miller

Publication year - 2013

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.2012-2828

Subject(s) - cholesterol side chain cleavage enzyme , pregnenolone , steroidogenic acute regulatory protein , adrenodoxin , missense mutation , biology , mutant , compound heterozygosity , reductase , genetics , mutation , gene , medicine , endocrinology , biochemistry , enzyme , cytochrome p450 , steroid , gene expression , messenger rna , hormone

The cholesterol side-chain cleavage enzyme P450scc, encoded by CYP11A1, converts cholesterol to pregnenolone to initiate steroidogenesis. P450scc deficiency can disrupt adrenal and gonadal steroidogenesis, resembling congenital lipoid adrenal hyperplasia clinically and hormonally; only 12 such patients have been reported previously.

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