Journal of Obstetrics and Gynaecology | 2019
A novel missense mutation in the androgen receptor gene causes the complete androgen insensitivity syndrome
Abstract
The androgen receptor (AR) gene, located at chromosome Xq11-12 with eight exons, encodes a 110 kDa nuclear protein that has a pivotal function in the process of male sexual differentiation and maturation (Brown et al. 1989; Heemers and Tindall 2007). Mutations in the AR gene can result in Androgen Insensitivity syndrome (AIS) which is an X-linked inherited disease. The clinical phenotypes of AIS are classified into three main categories: the complete (CAIS), partial (PAIS) and mild (MAIS) forms, according to the severity of androgen resistance (Galani et al. 2008). Here, we reported a novel missense mutation in the AR gene (p.2940A> T) with a phenotype of CAIS.