国际妇产科学杂志

国际妇产科学杂志 ›› 2025, Vol. 52 ›› Issue (3): 262-266.doi: 10.12280/gjfckx.20250087

• 普通妇科疾病及相关研究: 病例报告 • 上一篇    下一篇

应用全外显子组测序技术行完全性雄激素不敏感综合征遗传学病因探索

周静, 乔凤昌, 张翠平, 刘安, 李璃, 季修庆, 许争峰()   

  1. 210004 南京医科大学附属妇产医院（南京市妇幼保健院）产前诊断中心
  • 收稿日期:2025-01-27 出版日期:2025-06-15 发布日期:2025-06-19
  • 通讯作者: 许争峰 E-mail:zhengfeng_xu_nj@163.com
  • 基金资助:
    国家重点研发计划(2022YFC2703403)

Exploration of the Genetic Etiology of Complete Androgen Insensitivity Syndrome Using Whole Exome Sequencing Technology

ZHOU Jing, QIAO Feng-chang, ZHANG Cui-ping, LIU An, LI Li, JI Xiu-qing, XU Zheng-feng()   

  1. Center of Prenatal Diagnosis, Women′s Hospital of Nanjing Medical University, Nanjing Women and Children′s Healthcare Hospital, Nanjing 210004, China
  • Received:2025-01-27 Published:2025-06-15 Online:2025-06-19
  • Contact: XU Zheng-feng E-mail:zhengfeng_xu_nj@163.com

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摘要：

完全性雄激素不敏感综合征（complete androgen insensitivity syndrome，CAIS）是一种性发育障碍，患者的遗传物质、激素水平和性腺均为男性特征，但由于雄激素受体（androgen receptor，AR）异常，雄激素无法发挥其生物学效应，最终导致患者呈现女性表型。利用全外显子组测序（whole exome sequencing，WES）技术对4例高度怀疑CAIS患者进行遗传学病因分析，结果提示均存在AR基因（NM_000044.6）突变。病例1为AR基因c.2401del:p.T801Pfs*8变异，病例2为AR基因c.2494C>T p.Arg832* stop_gained变异，病例3为AR基因c.1581G>A p.Trp527* stop_gained变异；病例4为AR基因c.57C>A p.Tyr19* stop_gained变异，均评估为致病性变异，是CAIS的主要原因。其中病例1、病例3和病例4的AR基因突变以往未见报道，病例2的AR基因突变仅有1例报道。应用WES技术检测CAIS遗传病因可快速、高效、准确地明确致病原因，从而明确诊断和对症治疗。

关键词: 雄激素迟钝综合征, 受体，雄激素, 性发育障碍, 全外显子组测序, 诊断, 完全性雄激素不敏感综合征

Abstract:

Complete androgen insensitivity syndrome (CAIS) is a disorder of sex development. Patients with CAIS have male-characteristic genetic materials, hormone levels, and gonads. However, due to abnormalities in the androgen receptors (AR), androgens cannot exert their biological effects, ultimately leading to a female phenotype in patients. Whole exome sequencing (WES) technology was used to analyze the genetic etiology of 4 patients highly suspected of having CAIS. The results indicated that all of them had mutations in the AR (NM_000044.6) gene. In case 1, there was a c.2401del:p.T801Pfs*8 variant in the AR gene. In case 2, a c.2494C>T p.Arg832* stop_gained variant. In case 3, a c.1581G>A p.Trp527* stop_gained variant, and in case 4, a c.57C>A p.Tyr19* stop _gained variant. All of these variants were evaluated as pathogenic and were the main causes of CAIS. Among them, the AR gene mutations in cases 1, case 3 and case 4 had not been previously reported, and the AR gene mutation in case 2 had only been reported in one case. Using WES technology to detect the genetic etiology of CAIS can quickly, efficiently and accurately identify the pathogenic cause, thereby enabling a definite diagnosis and targeted treatment.

Key words: Androgen-insensitivity syndrome, Receptors, androgen, Disorders of sex development, Whole exome sequencing, Diagnosis, Complete androgen insensitivity syndrome