Deficient pregnenolone synthesis associated with congenital adrenal hyperplasia and organelle dysfunction

Steroid hormones are essential for the survival of all mammals. In adrenal glands and gonads, cytochrome P450 side chain cleavage enzyme (SCC or CYP11A1), catalyzes conversion of cholesterol to pregnenolone. We studied a patient with ambiguous genitalia by the absence of Müllerian ducts and the pres...

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Detalles Bibliográficos
Autores principales: Bose, Himangshu S, Rice, Alan M, Marshall, Brendan, Gebrail, Fadi, Kupshik, David, Perry, Elizabeth W
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2019
Materias:
Insight into Disease Pathogenesis or Mechanism of Therapy
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6499912/
https://www.ncbi.nlm.nih.gov/pubmed/31051467
http://dx.doi.org/10.1530/EDM-19-0009

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6499912/
https://www.ncbi.nlm.nih.gov/pubmed/31051467
http://dx.doi.org/10.1530/EDM-19-0009

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