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.
Publisher
Grigore T. Popa University of Medicine and Pharmacy
Reference10 articles.
1. "1. Joham AE, Piltonen T, Lujan ME, Kiconco S, Tay CT. Challenges in diagnosis and understanding of natural history of polycystic ovary syndrome. Clin Endocrinol (Oxf). 2022;97(2):165-173. doi: 10.1111/cen.14757. PMID: 35593530; PMCID: PMC9541175.
2. 2. Wang T, Liu Y, Lv M, et al. miR-323-3p regulates the steroidogenesis and cell apoptosis in polycystic ovary syndrome (PCOS) by targeting IGF-1. Gene. 2019;683:87-100. doi: 10.1016/j.gene.2018.10.006. PMID: 30300681.
3. 3. Finsterer J. Mitochondrial Dysfunction in Polycystic Ovary Syndrome. Reprod Sci. 2023;30(5):1435-1442. doi: 10.1007/s43032-022-01100-z. PMID: 36221022.
4. 4. Kuznetzova T, Baranov A, Ivaschenko T, et al. X;Y translocation in a girl with short stature and some features of Turner's syndrome: cytogenetic and molecular studies. J Med Genet. 1994;31(8):649-651. DOI: 10.1136/jmg.31.8.649. PMID: 7815426; PMCID: PMC1050031.
5. 5. Georgieva V, Ganev V. Familen sluchaĭ na balansirana khromozomna translokatsiia (7;8) (q11;p23) kato prichina za reproduktivni neblagopoluchiia [Familial case of a balanced chromosomal translocation (7;8) (q11;p23) as a cause of reproductive failure]. Akush Ginekol (Sofiia). 1983;22(5):409-14. Bulgarian. PMID: 6687104.