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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: The Endocrine Society 2010
Pynciau:
Original Article
Mynediad Ar-lein: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
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg