中文摘要：

目的探讨多囊卵巢综合征（PCOS）患者不同临床表型与家族史的相关性，研究遗传因素在PCOS发病中的作用。方法选取2010-2011年于本院就诊的PCOS患者146例，根据体重指数（BMI）将患者分为肥胖型PCOS（BMI＞25kg/m^2）60例和非肥胖型PCOS（BMI＜25kg/m^2）86例。记录所有患者的年龄、身高、体重、月经史、多毛及痤疮情况，测定空腹血糖（FBG）和空腹胰岛素（FINS）水平；采用家系调查表收集患者家族史，并加以对照研究。结果两组患者年龄、多毛、痤疮情况均无统计学差异（均P＞0.05）。肥胖型PCOS患者胰岛素抵抗（IR）发生率高于非肥胖型患者（P＜0.01）。有家族肥胖史的患者更易发生肥胖型PCOS，而亚组分析提示父系肥胖会导致患者肥胖型PCOS患病风险增加（P＜0.05），母系肥胖对PCOS的临床表型影响无统计学意义（P＞0.05）；两组患者其余家族史方面比较均无统计学差异（均P＞0.05）。结论 PCOS患者的临床表型与代谢性疾病家族史具有一定相关性，有家族肥胖史的患者更易得肥胖型PCOS，且父系肥胖影响更大，提示和代谢相关的遗传基因可能在PCOS家族遗传中扮演重要角色。

英文摘要：

Objective To investigate the association of family history with clinical phenotypes in patients with polycystic ovary syndrome （PCOS）. Methods One hundred and forty six patients with PCOS admitted in Hangzhou First People’s Hospital in 2010-2011 were enrol ed in the study. Based on body mass index （BMI）, patients were classified as obese group （n=60） and non- obese group （n=86）. The clinical data including height, body weight, hirsutism, acne, the serum fasting insulin （FINS）, the serum fasting blood- glucose（FBG） and family history were documented and analyzed. Results The prevalence of hirsutism and acne was high in PCOS patients, but there was no significantly difference between obese and non- obese groups （P〈0.05）. The prevalence of IR in obese patients was significantly higher than that in non- obese patients（P〈0.01）. Patients with family history of obesity were more likely to have obese PCOS （P〈0.05）;further analysis showed that patients with family history of paternal obe-sity had an increased risk of PCOS （P〈0.05）, but not for patients with a history of maternal obesity （P〈0.05）. Conclusion The clinical phenotype is certainly associated with family history in patients with polycystic ovary syndrome.