Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X)

CONTEXT: Cytochrome P450 side-chain cleavage enzyme (CYP11A1) catalyses the first and rate-limiting step of steroidogenesis, the conversion of cholesterol to pregnenolone. CYP11A1 deficiency is commonly associated with adrenal insufficiency, and in 46,XY individuals, with variable degrees of disorde...

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Detalles Bibliográficos
Autores principales: Parajes, Silvia, Chan, Angel OK, But, W M, Rose, Ian T, Taylor, Angela E, Dhir, Vivek, Arlt, Wiebke, Krone, Nils
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioScientifica 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3494866/
https://www.ncbi.nlm.nih.gov/pubmed/22968487
http://dx.doi.org/10.1530/EJE-12-0450

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3494866/
https://www.ncbi.nlm.nih.gov/pubmed/22968487
http://dx.doi.org/10.1530/EJE-12-0450

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