中国6例完全性雄激素不敏感综合征患者的临床及遗传学特征

Clinical and genetic characterization of six cases with complete androgen insensitivity syndrome in China.

作者信息

He Jing, Qi Shuwu, Zhang Huijun, Guo Jingjing, Chen Shu, Zhang Qi, Zhu Baosheng

机构信息

Genetic Diagnosis Center, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, The First People's Hospital of Yunnan Province, Kunming 650032, Yunnan, People's Republic of China.

出版信息

J Genet. 2017 Sep;96(4):695-700. doi: 10.1007/s12041-017-0809-4.

DOI:10.1007/s12041-017-0809-4

PMID:28947719

Abstract

Themutations of androgen receptor (AR) gene are the most common cause for complete androgen insensitivity syndrome (CAIS). We aimed to characterize the six cases enrolled in our hospital (the First People's Hospital of Yunnan, China) and explore the molecular mechanism of CAIS. Between 2010 and 2013, six female cases were enrolled in our hospital for the agenesis of secondary sexual characteristics. The clinical examinations such as sex hormone test and B ultrasound were performed and the genetic characterization of patients were evaluated by karyotype analysis, polymerase chain reaction and DNA sequencing. The six cases with 46, XY karyotype were diagnosed with CAIS and four novel AR mutations were discovered, which were responsible for Chinese CAIS. The molecular study of the AR gene facilitated the understanding of themechanism of CAIS and provided the genetic counselling clinically.

摘要

雄激素受体（AR）基因突变是完全性雄激素不敏感综合征（CAIS）最常见的病因。我们旨在对我院（中国云南省第一人民医院）收治的6例患者进行特征分析，并探讨CAIS的分子机制。2010年至2013年期间，我院收治了6例因第二性征发育不全入院的女性患者。进行了性激素检测和B超等临床检查，并通过核型分析、聚合酶链反应和DNA测序对患者进行基因特征评估。6例核型为46，XY的患者被诊断为CAIS，并发现了4种新的AR突变，这些突变是中国CAIS的病因。对AR基因的分子研究有助于理解CAIS的发病机制，并为临床遗传咨询提供依据。