Novel SCC mutation in a patient of Mexican descent with sex reversal, salt-losing crisis and adrenal failure

Congenital adrenal hyperplasia (CAH) is caused by mutations in cytochrome P450 side chain cleavage enzyme (CYP11A1 and old name, SCC). Errors in cholesterol side chain cleavage by the mitochondrial resident CYP11A1 results in an inadequate amount of pregnenolone production. This study was performed...

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Detalles Bibliográficos
Autores principales: Kaur, Jasmeet, Rice, Alan M, O’Connor, Elizabeth, Piya, Anil, Buckler, Bradley, Bose, Himangshu S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2016
Materias:
Insight into Disease Pathogenesis or Mechanism of Therapy
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5093401/
https://www.ncbi.nlm.nih.gov/pubmed/27855232
http://dx.doi.org/10.1530/EDM-16-0059

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