多囊卵巢综合征(Polycystic Ovary Syndrome,PCOS)是生育年龄妇女常见的内分泌和代谢异常性疾病,发病率为5%～10%。PCOS不仅影响患者的生殖功能,而且还可产生多方面的代谢障碍。目前许多研究认为PCOS存在家族聚集性,其生殖和代谢方面的异常具有一定的遗传基础。本文主要综述了近年来关于PCOS患者一级亲属生殖和代谢方面的研究。 Polycystic ovarian syndrome (PCOS) is a common endocrine and metabolic disorders in women of childbearing age, the incidence of 5% to 10%. PCOS not only affects the patient’s reproductive function, but also produces a wide range of metabolic disorders. At present, many studies think PCOS has familial aggregation, and its reproductive and metabolic abnormalities have certain genetic basis. This review summarizes recent studies on reproductive and metabolic aspects of first-degree relatives of patients with PCOS.