Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche

Context: Undervirilization in males, i.e. 46,XY disordered sex development (46,XY DSD), is commonly caused by either lack of androgen action due to mutant androgen receptor (AR) or deficient androgen synthesis, e.g. due to mutations in 17α-hydroxylase (CYP17A1). Like all other microsomal cytochrome...

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Hauptverfasser: Idkowiak, Jan, Malunowicz, Ewa M., Dhir, Vivek, Reisch, Nicole, Szarras-Czapnik, Maria, Holmes, Donna M., Shackleton, Cedric H. L., Davies, John D., Hughes, Ieuan A., Krone, Nils, Arlt, Wiebke
Format: Artigo
Sprache:Inglês
Veröffentlicht: The Endocrine Society 2010
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Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3071629/
https://ncbi.nlm.nih.gov/pubmed/20410220
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2010-0058
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