title: Different types of androgen receptor mutations in patients with complete androgen insensitivity syndrome.
abstract: Mutations of androgen receptor (AR) are the most frequent cause of 46, XY disorders of sex development and associated with a variety of phenotypes, ranging from phenotypic women (complete androgen insensitivity syndrome (CAIS)) to milder degrees of undervirilization (partial form or PAIS) or men with only infertility (mild form or MAIS). From 2009 to 2012, two young Chinese female individuals with CAIS from two families were referred to our hospital due to primary amenorrhea. Defects in testosterone (T) and dihydrotestosterone (DHT) synthesis were excluded. Physical examination revealed that the patients have normal female external genitalia, normal breast development, vellus hair in the axilla and on the arms and legs, but absence of pubic hair, and a blind-ending vagina. Two different types of AR mutations have been detected by sequencing of genomic DNA: Family A showed deletion of exon 2 in AR gene; Family B showed a single nucleotide C-to-T transition in exon 8 of AR gene resulting in a proline 893-to-leucine substitution (Pro893Leu). Testicular histology showed developmental immaturity of seminiferous tubules with the absence of spermatogenic cells or spermatozoa. No AR immunoreactivity was observed in either case. Three adult patients recovered well from bilateral orchiectomy. The juvenile patient of family B was followed up. Our present study on these two families revealed two different types of AR mutation. The definitive diagnosis of AIS was based on clinical examination and genetic investigations. Our findings verified the mechanism of CAIS and also enriched AR Gene Mutation Database.
authors: Department of Urology, Huashan Hospital of Fudan University, Shanghai, China;
authors: Jialiang
authors: J
authors: Shao
authors: Department of Urology, Huashan Hospital of Fudan University, Shanghai, China;
authors: Jiangang
authors: J
authors: Hou
authors: Department of Urology, Zhujiang Hospital of Southern Medical University, Guangzhou, China.
authors: Bingkun
authors: B
authors: Li
authors: Department of Urology, Huashan Hospital of Fudan University, Shanghai, China;
authors: Dongyang
authors: D
authors: Li
authors: Department of Urology, Huashan Hospital of Fudan University, Shanghai, China;
authors: Ning
authors: N
authors: Zhang
authors: Department of Urology, Huashan Hospital of Fudan University, Shanghai, China;
authors: Xiang
authors: X
authors: Wang
keywords: AR domains; Complete androgen insensitivity syndrome; androgen receptor; deletion and transition; disorder of sex development