Article
Concomitant mutations in the P450 oxidoreductase and androgen receptor genes presenting with 46,XY disordered sex development and androgenization at adrenarche.
The Journal of clinical endocrinology and metabolism - 1 Jul 2010
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
Abstract excerpt
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 17alpha-hydroxylase (CYP17A1). Like all other microsomal cytochrome P450 (CYP) enzymes, CYP17A1 requires electron transfer from P450 oxidoreductase (POR). OBJECTIVE: The objective...
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