Polycystic Ovary Syndrome and Incidental Diagnosis of Mosaic Turner Syndrome.

ABSTRACT

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.