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 P...

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Veröffentlicht in:	The journal of clinical endocrinology and metabolism 2010-07, Vol.95 (7 Suppl 1), p.3418-3427
Hauptverfasser:	Idkowiak, Jan, Malunowicz, Ewa M, Dhir, Vivek, Reisch, Nicole, Szarras-Czapnik, Maria, Holmes, Donna M, Shackleton, Cedric H. L, Davies, John D, Hughes, leuan A, Krone, Nils, Arlt, Wiebke
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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