Novel Variant of the Androgen Receptor Gene in a Patient With Complete Androgen Insensitivity Syndrome and Polyorchidism

Novel Variant of the Androgen Receptor Gene in a Patient With Complete Androgen Insensitivity Syndrome and Polyorchidism

Introduction: Complete androgen insensitivity (CAIS) in 65–95% cases is caused by pathogenic allelic variants (mutations) in the gene encoding androgen receptor (AR gene) and is characterized by female phenotype development with a male karyotype (46, XY). Patients are usually diagnosed during pubert...

Full description

Bibliographic Details
Main Authors: Ilze Konrade, Julija Zavorikina, Aija Fridvalde, Dmitrijs Rots, Ieva Kalere, Ilze Strumfa, Maija Dambrova, Linda Gailite
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-01-01
Series:Frontiers in Endocrinology
Subjects:
complete androgen insensitive syndrome
androgen receptor (AR) gene
polyorchidism
supernumerary testis
novel genetic variants
case
Online Access:https://www.frontiersin.org/article/10.3389/fendo.2018.00795/full

Internet

https://www.frontiersin.org/article/10.3389/fendo.2018.00795/full

Similar Items