Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency

Context: Cortisone reductase deficiency (CRD) is characterized by a failure to regenerate cortisol from cortisone via 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1), resulting in increased cortisol clearance, activation of the hypothalamic-pituitary-axis (HPA) and ACTH-mediated adrenal androgen...

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Detalhes bibliográficos
Main Authors: Lavery, Gareth G., Walker, Elizabeth A., Tiganescu, Ana, Ride, Jon P., Shackleton, Cedric H. L., Tomlinson, Jeremy W., Connell, John M. C., Ray, David W., Biason-Lauber, Anna, Malunowicz, Ewa M., Arlt, Wiebke, Stewart, Paul M.
Formato: Artigo
Idioma:Inglês
Publicado em: The Endocrine Society 2008
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2579651/
https://ncbi.nlm.nih.gov/pubmed/18628520
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2008-0743
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