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

Josef Finsterer

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.

Keywords


PCOS; 46XX t(2;9)(q21;p24); post-COVID; metabolic disease; hyper-androgenism

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References


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DOI: http://dx.doi.org/10.22551/2023.40.1003.10256

Copyright (c) 2023 Josef Finsterer

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