上海交通大学学报（医学版）

上海交通大学学报（医学版）

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雄激素不敏感综合征的诊疗进展

张梅莹，狄文   

  1. 上海交通大学 医学院附属仁济医院妇产科， 上海 200127
  • 出版日期:2015-12-28 发布日期:2016-01-21
  • 通讯作者: 狄文, 电子信箱: diwen163@163.com。
  • 作者简介:张梅莹（1982—）， 女， 主治医师， 博士; 电子信箱: fudoczhang82@sina.com。

Advances of diagnosis and treatment of androgen insensitivity syndrome

ZHANG Mei-ying, DI Wen   

  1. Department of Obstetrics and Gynecology, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China
  • Online:2015-12-28 Published:2016-01-21

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摘要：

雄激素不敏感综合征是一种性发育异常疾病，雄激素受体基因突变是主要病因，其染色体核型为46,XY。该综合征为男性假两性畸形，临床表现为男子不同程度的女性体态改变和生育力的显著下降，这对患者的生活质量和心理会产生重大影响，而目前对该类综合征患者的治疗是基于性别选择基础上的综合治疗。该文综述雄激素不敏感综合征的诊疗进展，以期提高早期诊断率，并进行个性化的多学科联合治疗，改善患者的生活质量。

关键词: 雄激素不敏感综合征, 雄激素受体, 性腺肿瘤, 手术治疗, 激素替代治疗

Abstract:

Androgen insensitivity syndrome is a disease of sexual abnormality. The major cause is the mutation of androgen receptor gene. The karyotype is 46, XY. The syndrome is male pseudohermaphroditism and clinical manifestations are different levels of women posture changes and significant decrease of fertility, which remarkably affect the quality of life and mentality of patients. At present the treatment of patients with this syndrome is the comprehensive treatment based on sex assignment. This paper reviews advances of diagnosis and treatment of androgen insensitivity syndrome with the purposes of increasing the rate of early diagnosis, facilitating individualized and multidisciplinary therapies, and improving patients' quality of life.

Key words: androgen insensitivity syndrome, androgen receptor, gonadal tumor, surgerical therapy, hormone replacement therapy