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因新型易位46XX t(2;9)(q21;p24)导致的多囊卵巢综合征

Polycystic ovary syndrome due to the novel translocation 46XX t(2;9)(q21;p24).

作者信息

Finsterer Josef

机构信息

Neurology Department, Neurology & Neurophysiology Center, Vienna, Austria.

出版信息

Arch Clin Cases. 2023 Sep 20;10(3):123-124. doi: 10.22551/2023.40.1003.10256. eCollection 2023.

Abstract

The etiology of polycystic ovary syndrome (PCOS) is not exactly known, but there are indications that genetic factors, exposure to androgen in early childhood, and obesity lead to a disruption of the hypothalamic-pituitary-ovarian axis and dysregulation of microRNAs. Chromosomal aberrations have rarely been described as a cause of PCOS. We present the case of a 20-year-old female diagnosed with PCOS at age 17 due to hyperandrogenism, obesity, polycystic ovaries, amenorrhoea, and emerging insulin resistance. A work-up for the cause of PCOS revealed a previously undescribed translocation 46XX t(2;9)(q21;p24). Alternative causes of PCOS were excluded. In addition, the patient had post-COVID syndrome. The patient was treated with contraceptive pills. PCOS can be caused by the translocation 46XX t(2;9)(q21;p24). The clinical manifestations of PCOS can be exacerbated by post-COVID syndrome.

摘要

多囊卵巢综合征(PCOS)的病因尚不完全清楚,但有迹象表明,遗传因素、儿童早期接触雄激素以及肥胖会导致下丘脑 - 垂体 - 卵巢轴功能紊乱和微小RNA失调。染色体畸变很少被描述为PCOS的病因。我们报告一例20岁女性病例,该患者17岁时因高雄激素血症、肥胖、多囊卵巢、闭经和新发胰岛素抵抗被诊断为PCOS。对PCOS病因的检查发现了一种先前未描述的易位46XX t(2;9)(q21;p24)。排除了PCOS的其他病因。此外,该患者患有新冠后综合征。患者接受了避孕药治疗。PCOS可能由46XX t(2;9)(q21;p24)易位引起。新冠后综合征可能会加重PCOS的临床表现。

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