多囊卵巢综合征与特纳综合征嵌合体的偶然诊断。
Polycystic Ovary Syndrome and Incidental Diagnosis of Mosaic Turner Syndrome.
机构信息
Undergraduate Medical Education, Queen's University, Kingston, ON.
Department of Pediatrics, Queen's University, Kingston, ON.
出版信息
J Obstet Gynaecol Can. 2021 Jun;43(6):756-759. doi: 10.1016/j.jogc.2020.08.020. Epub 2020 Sep 8.
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.
背景
多囊卵巢综合征（PCOS）是育龄妇女常见的病症。嵌合体特纳综合征（TS）是一种具有显著表型变异性的遗传疾病。嵌合体 TS 妇女中 PCOS 的发生很少被研究。
病例
一名 30 岁的未婚未育女性，表现为月经稀发、高雄激素血症、不孕和超声多囊卵巢形态。她被诊断为 PCOS，并在促排卵后怀孕。两次非侵入性产前筛查结果均不明确后，她被转至医学遗传学。母亲的核型结果诊断为 45,X/46,XX 嵌合体 TS。她足月分娩了一名健康的 46,XY 婴儿。
结论
PCOS 可影响嵌合体 TS 妇女。需要进一步的研究来更好地描述嵌合体 TS 妇女的生殖情况，包括并发 PCOS 的表现。
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