新型易位46XX t(2;9)(q21;p24)引起的多囊卵巢综合征。

IF 0.8 Q3 MEDICINE, GENERAL & INTERNAL Archive of clinical cases Pub Date : 2023-09-20 eCollection Date: 2023-01-01 DOI:10.22551/2023.40.1003.10256
Josef Finsterer
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引用次数: 0

摘要

多囊卵巢综合征(PCOS)的病因尚不清楚,但有迹象表明,遗传因素、儿童早期暴露于雄激素和肥胖会导致下丘脑-垂体-卵巢轴的破坏和微小RNA的失调。染色体畸变很少被描述为多囊卵巢综合征的原因。我们报告了一例20岁女性在17岁时因高雄激素血症、肥胖、多囊卵巢、闭经和新出现的胰岛素抵抗而被诊断为多囊卵巢综合征的病例。对多囊卵巢综合征病因的检查显示,先前未描述的46XX t(2;9)易位(q21;p24)。排除了多囊卵巢综合征的其他病因。此外,该患者还患有新冠肺炎后综合征。病人服用了避孕药。PCOS可由46XXt(2;9)(q21;p24)易位引起。新冠肺炎后综合征可加重多囊卵巢综合征的临床表现。
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Polycystic ovary syndrome due to the novel translocation 46XX t(2;9)(q21;p24).

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.

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