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 (6): 465-469.

• 病例报告 • 上一篇    下一篇

X-常染色体易位伴卵巢早衰二例并文献复习

吴艳花，包慧，陈英剑   

  1. 250031  济南，中国人民解放军联勤保障部队第九六〇医院检验科
  • 收稿日期:2020-03-13 修回日期:2020-07-16 出版日期:2020-11-15 发布日期:2020-11-15

Two Cases of X-Autosome Translocations Associated with Premature Ovarian Failure and Literature Review

WU Yan-hua，BAO Hui，CHEN Ying-jian   

  1. Department of Laboratory Medicine，The 960th Hospital of the PLA Joint Logistics Support Force，Jinan 250031，China
  • Received:2020-03-13 Revised:2020-07-16 Published:2020-11-15 Online:2020-11-15

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摘要： 卵巢早衰（premature ovarian failure，POF）是导致女性不孕症的一个重要原因，其发病机制复杂多样，涉及遗传学、自身免疫、感染和医源性等因素，但是大部分POF发病机制尚不明确。染色体异常是导致POF的常见因素之一，约占10%～15%；其中尤以X染色体异常最为常见，包括X染色体数目异常、结构异常及X-常染色体易位。本文报道2例X-常染色体易位伴POF患者并进行文献回顾，对X-常染色体易位与POF相关性进行探讨。

关键词: 染色体畸变；, X-常染色体易位；, 易位, 遗传；, 原发性卵巢功能不全

Abstract: Premature ovarian failure (POF) is an important cause of female infertility. The aetiology of POF is highly heterogeneous, including genetic, autoimmune, infectious and metabolic factors. However, the aetiology is still undetermined in most cases. Chromosomal abnormalities have long been recognized as a frequent cause of POF, which account for 10%-15% of the cases. The X chromosome is mostly affected, ranging from numerical defects, structural alterations, X-autosome translocations. Here we report two cases of X-autosome translocations associated with POF and review the related literatures.

Key words: Chromosome aberrations；, X-autosome translocations；, Translocation, genetic；, Primary ovarian insufficiency