Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

CONTEXT: P450 oxidoreductase (POR) is a crucial electron donor to all microsomal P450 cytochrome (CYP) enzymes including 17α-hydroxylase (CYP17A1), 21-hydroxylase (CYP21A2) and P450 aromatase. Mutant POR causes congenital adrenal hyperplasia with combined glucocorticoid and sex steroid deficiency. P...

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Main Authors: Idkowiak, Jan, O'Riordan, Stephen, Reisch, Nicole, Malunowicz, Ewa M., Collins, Felicity, Kerstens, Michiel N., Köhler, Birgit, Graul-Neumann, Luitgard Margarete, Szarras-Czapnik, Maria, Dattani, Mehul, Silink, Martin, Shackleton, Cedric H. L., Maiter, Dominique, Krone, Nils, Arlt, Wiebke
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2011
Assuntos:
JCEM Online: Hot Topics in Translational Endocrinology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3124345/
https://ncbi.nlm.nih.gov/pubmed/21190981
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2010-1607
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