Background: Polycystic ovary syndrome (PCOS) is a common condition in women of reproductive age. Mosaic Turner syndrome (TS) is a genetic disorder with significant phenotypic variability. The occurrence of PCOS in women with mosaic TS has been infrequently studied.
Case: A 30-year-old nulligravid woman presented with oligomenorrhea, hyperandrogenism, infertility, and ultrasound polycystic ovary morphology. She was diagnosed with PCOS and conceived following ovulation induction. After 2 inconclusive non-invasive prenatal screening results, she was referred to medical genetics. A maternal karyotype resulted in a diagnosis of 45,X/46,XX mosaic TS. She delivered a healthy 46,XY infant at term.
Conclusion: PCOS can affect women with mosaic TS. Further studies are needed to better characterize the reproductive profile of women with mosaic TS, including the presentation of concurrent PCOS.
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| http://dx.doi.org/10.1016/j.jogc.2020.08.020 | DOI Listing |
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