国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2020, Vol. 39 ›› Issue (2): 135-137.

• 病例报告 • 上一篇    下一篇

4５，X/46，ＸY嵌合体一例并文献复习

赵海君，卢静，张皙卉，邢晓媛   

  1. 056000 河北省邯郸市中心医院生殖医学科（赵海君，卢静，张皙卉）；河北省邯郸市魏县人民医院妇一科（邢晓媛）
  • 收稿日期:2019-09-11 修回日期:2019-11-27 出版日期:2020-03-15 发布日期:2020-03-15
  • 通讯作者: 赵海君，E-mail：zhaohaijunzi@163.com E-mail:zhaohaijunzi@163.com
  • 基金资助:
     

Case Report of 45, X/46, XY Mosaic and Literature Review

ZHAO Hai-jun，LU Jing，ZHANG Xi-hui，XING Xiao-yuan   

  1. Department of Reproductive Medicine，Handan Central Hospital，Handan 056000，Hebei Province，China（ZHAO Hai-jun，LU Jing，ZHANG Xi-hui）；First Department of Gynecology，Weixian People′s Hospital，Handan 056800，Hebei Province，China（XING Xiao-yuan）
  • Received:2019-09-11 Revised:2019-11-27 Published:2020-03-15 Online:2020-03-15
  • Contact: ZHAO Hai-jun，E-mail：zhaohaijunzi@163.com E-mail:zhaohaijunzi@163.com
  • Supported by:
     

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摘要： 4５，X/46，XY嵌合体是临床罕见的性染色体发育异常，属于混合性性腺发育不良，可导致性腺及外生殖器发育异常、身材矮小以及性腺恶变等。一般与Y染色体以及性别决定基因异常有关。现报道1例4５，X/4６，ＸＹ嵌合体表型为女性的患者临床资料，并对该病的发病机制、临床表现、生育问题等进行文献复习和讨论，以期增加对该病的认识，对此类患者做到更好的管理和随访。

关键词: 性腺发育不全, 混合性；, 嵌合体；, 核型；, 女性；, 闭经

Abstract: 45, X/46, XY mosaic, a kind of mixed gonadal dysplasia, is a rare abnormality of sex chromosomes. This mosaic can lead to the developmental disorders of gonad and externalia, short stature, even the malignant degeneration of gonad, which is related to Y chromosome and sex-determining genes. In this paper, we report the clinical data of a 45, X/46, XY mosaic case with female phenotype, including the pathogenesis, clinical manifestations and reproductive problems of the disease. We also review the related literatures in order to increase the understanding, and to treat those patients better.

Key words: Gonadal dysgenesis, mixed；, Chimera；, Karyotype；, Femininity；, Amenorrhea

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