Novel Androgen Receptor Gene Mutation in Patient With Complete Androgen Insensitivity Syndrome
Novel Androgen Receptor Gene Mutation in Patient With Complete Androgen Insensitivity Syndrome
复制标题
完全性雄激素不敏感综合征患者的新型雄激素受体基因突变
DOI：
10.1016/j.urology.2012.03.028
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发表时间：
2012-07-01
期刊：
影响因子：
2.1
通讯作者：
Li, Zheng
中科院分区：
文献类型：
--
作者：
Ning, Ye;Zhang, Feng;Li, Zheng
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. Histopatho-logic 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. UROLOGY 80: 216-218, 2012. (C) 2012 Elsevier Inc.
