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

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Published Sep 12, 2023
DOI: https://doi.org/10.22551/2023.40.1003.10256
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.

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Keywords

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

References
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How to Cite
Polycystic ovary syndrome due to the novel translocation 46XX t(2;9)(q21;p24). (2023). Archive of Clinical Cases, 10(3), Arch Clin Cases. 2023;10(3):123-124. https://doi.org/10.22551/2023.40.1003.10256
Issue
Vol. 10 No. 3 (2023)
Section
Case Reports

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How to Cite

Polycystic ovary syndrome due to the novel translocation 46XX t(2;9)(q21;p24). (2023). Archive of Clinical Cases, 10(3), Arch Clin Cases. 2023;10(3):123-124. https://doi.org/10.22551/2023.40.1003.10256