Finsterer Josef
Neurology Department, Neurology & Neurophysiology Center, Vienna, Austria.
Arch Clin Cases. 2023 Sep 20;10(3):123-124. doi: 10.22551/2023.40.1003.10256. eCollection 2023.
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.
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。