多囊卵巢综合征的病因尚不清楚，受遗传、激素和生活方式等因素影响，但PCOS具有明显的家族聚集性，越来越多研究报道PCOS的遗传倾向。双胞胎研究证明了PCOS与遗传强相关。PCOS女性的一级直系亲属会有高雄激素血症风险，约22%的患者姐妹确诊PCOS，
24%的患者姐妹存在高雄激素血症，24%的患者母亲有PCOS[7-9]。2019年的研究报道发现PCOS患者的女儿中有71％患有PCOS。患者的女性后代存在典型的PCOS生殖表型，包括雄激素过多，月经不规律和卵巢多囊性形态。PCOS的遗传方式极有可能是线粒体母系遗传[10]。
[7]Vink JM, Sadrzadeh S, Lambalk CB, Boomsma DI. Heritability of polycystic ovary syndrome in a Dutch twin-family study. J Clin Endocrinol Metab. 2006;91(6):2100–2104.
[8]Legro RS, Driscoll D, Strauss JF III, Fox J, Dunaif A. Evidence for a genetic basis for hyperandrogenemia in polycystic ovary syndrome. Proc Natl Acad Sci USA. 1998;95(25):14956–14960.
[9]Franks S, Webber LJ, Goh M, et al. Ovarian morphology is a marker of heritable biochemical traits in sisters with polycystic ovaries. J Clin Endocrinol Metab. 2008;93(9):3396–3402.
[10]Sanjiv Risal , Yu Pei , Haojiang Lu, et al.Prenatal Androgen Exposure and Transgenerational Susceptibility to Polycystic Ovary Syndrome.Nat Med. 2019 Dec;25(12):1894-1904.
24%的患者姐妹存在高雄激素血症，24%的患者母亲有PCOS[7-9]。2019年的研究报道发现PCOS患者的女儿中有71％患有PCOS。患者的女性后代存在典型的PCOS生殖表型，包括雄激素过多，月经不规律和卵巢多囊性形态。PCOS的遗传方式极有可能是线粒体母系遗传[10]。
[7]Vink JM, Sadrzadeh S, Lambalk CB, Boomsma DI. Heritability of polycystic ovary syndrome in a Dutch twin-family study. J Clin Endocrinol Metab. 2006;91(6):2100–2104.
[8]Legro RS, Driscoll D, Strauss JF III, Fox J, Dunaif A. Evidence for a genetic basis for hyperandrogenemia in polycystic ovary syndrome. Proc Natl Acad Sci USA. 1998;95(25):14956–14960.
[9]Franks S, Webber LJ, Goh M, et al. Ovarian morphology is a marker of heritable biochemical traits in sisters with polycystic ovaries. J Clin Endocrinol Metab. 2008;93(9):3396–3402.
[10]Sanjiv Risal , Yu Pei , Haojiang Lu, et al.Prenatal Androgen Exposure and Transgenerational Susceptibility to Polycystic Ovary Syndrome.Nat Med. 2019 Dec;25(12):1894-1904.
