title: Novel androgen receptor gene mutation in patient with complete androgen insensitivity syndrome.
abstract: To present a rare case of a patient probably with complete androgen insensitivity syndrome (CAIS) and studied its potential genetic cause. A 24-year-old woman with a normal-appearing vulva and vagina presented to us because of primary amenorrhea. Imaging studies showed no uterus or ovary development but inguinal cryptorchism. Histopathologic examination revealed normal testicular structures. Sequencing the CAIS-associated androgen receptor gene revealed a novel missense mutation of T to G (F698L). A novel androgen receptor gene mutation in the ligand binding domain was detected in the present patient with CAIS, supporting the important role of an androgen receptor defect in the etiology of CAIS.
authors.affiliation: Department of Urology, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors.forename: Ye
authors.initials: Y
authors.lastname: Ning
authors.forename: Feng
authors.initials: F
authors.lastname: Zhang
authors.forename: Yong
authors.initials: Y
authors.lastname: Zhu
authors.forename: Huixing
authors.initials: H
authors.lastname: Chen
authors.forename: Jianqi
authors.initials: J
authors.lastname: Lu
authors.forename: Zheng
authors.initials: Z
authors.lastname: Li
mesh_terms: D013734:Androgen-Insensitivity Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D011944:Receptors, Androgen / Q000235:genetics*; D055815:Young Adult
chemical_list: D011944:Receptors, Androgen