国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2022, Vol. 41 ›› Issue (5): 386-388.doi: 10.12280/gjszjk.20220259

• 病例报告 • 上一篇    下一篇

46,XY女性性反转综合征一例并文献复习

贺娟娟1,2, 刘琨1,2, 王佩晨1,2, 申梦丹1,2, 张学红1,2()   

  1. 730000 兰州大学第一临床医学院（贺娟娟,王佩晨）;兰州大学第一医院（刘琨,张学红）;兰州大学护理学院（申梦丹）
  • 收稿日期:2022-05-20 出版日期:2022-09-15 发布日期:2022-10-12
  • 通讯作者: 张学红 E-mail:zhangxueh@lzu.edu.cn

A Case of 46,XY Female Sexual Reversal Syndrome and Literature Review

HE Juan-juan1,2, LIU Kun1,2, WANG Pei-chen1,2, SHEN Meng-dan1,2, ZHANG Xue-hong1,2()   

  1. The First School of Clinical Medical of Lanzhou University, Lanzhou 730000, China (HE Juan-juan, WANG Pei-chen);The First Hospital of Lanzhou University, Lanzhou 730000, China (LIU Kun, ZHANG Xue-hong); School of Nursing, Lanzhou University, Lanzhou 730000, China (SHEN Meng-dan)
  • Received:2022-05-20 Published:2022-09-15 Online:2022-10-12
  • Contact: ZHANG Xue-hong E-mail:zhangxueh@lzu.edu.cn

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摘要：

回顾1例原发性闭经的青少年女性腹部彩色超声、染色体核型及外周血染色体畸变检测（芯片）分析的病例资料,复习46,XY女性性反转相关文献,探讨该病的临床病因、诊断及治疗。该患者行腹部彩色超声检查提示未见两性器官;染色体核型分析为46,X,max?;外周血染色体畸变检测（芯片）分析结果为46,XY。推断该患儿临床病因与染色体性别决定性腺分化过程的异常相关。可见传统染色体核型检测具有一定的局限性,利用外周血染色体畸变检测（芯片）分析可明确病因。

关键词: 异常核型, 性反转综合征, 核型分析, 性发育, 原发性闭经

Abstract:

By reviewing the clinical data of an adolescent female with primary amenorrhea, including the abdominal color ultrasound, chromosomal karyotype and peripheral blood chromosomal aberration detection (chip) analysis, and by reviewing the related literature, we discussed the clinical etiology, diagnosis and treatment of 46,XY female sex inversion. Abdominal color ultrasound showed no sexual organs; karyotype was 46,X,max?; and chromosomal aberration detection (chip) analysis of peripheral blood was 46,XY. Therefore, the clinical etiology of this child is related to the abnormal process of chromosomal sex-determining gonadal differentiation. Traditional karyotype detection has certain limitations, and the peripheral blood chromosomal aberration detection (chip) analysis can be used to identify the cause.

Key words: Abnormal karyotype, Sex inversion syndrome, Karyotyping, Sexual development, Primary amenorrhea