Varied Clinical Presentations of Seven Patients With Mutations in CYP11A1 Encoding the Cholesterol Side-Chain Cleavage Enzyme, P450scc

CONTEXT: 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 s...

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Hauptverfasser: Tee, Meng Kian, Abramsohn, Michal, Loewenthal, Neta, Harris, Mark, Siwach, Sudeep, Kaplinsky, Ana, Markus, Barak, Birk, Ohad, Sheffield, Val C., Pavari, Ruti, Hershkovitz, Eli, Miller, Walter L.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Endocrine Society 2013
Schlagworte:
Endocrine Research
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3565115/
https://ncbi.nlm.nih.gov/pubmed/23337730
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2012-2828
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