目的:探讨多囊卵巢综合征(PCOS)患者一级亲属遗传表型的相关性。方法:采用问卷表收集2007年4月至12月105例PCOS患者的一级亲属和103名对照者一级亲属的临床资料,比较肥胖、糖尿病、冠心病、早秃(男性)、月经稀发(女性)、高血压在两组间的发生频率,进行统计分析。结果:PCOS患者一级亲属肥胖、糖尿病、冠心病、早秃(男性)、月经稀发(女性)发生率分别占32.4%,11.9%,8.1%,19.1%,30.5%,均明显高于对照组(为20.3%,4.4%,2.4%,7.8%,1.9%,均P<0.05),OR分别为1.87,2.958,3.541,2.794,22.137。根据Falconer公式计算遗传度,分别为肥胖41.1%,糖尿病47.5%,冠心病48%,早秃53.3%,月经稀发87%,高血压12%。结论:PCOS患者一级亲属肥胖、糖尿病、冠心病、男性早秃、女性月经稀发可能是PCOS的独立遗传表型。遗传因素对月经稀发起主导作用,环境因素在其他表型中的作用更为重要。 Objective: To investigate the genetic phenotypes of first-degree relatives in patients with polycystic ovary syndrome (PCOS). Methods: The clinical data of 105 first-degree relatives and 103 first-degree relatives of PCOS patients from April 2007 to December 2007 were collected. The data of obesity, diabetes, coronary heart disease, early baldness (male), oligomenorrhea (Female), hypertension in the frequency of occurrence between the two groups for statistical analysis. Results: The incidence of obesity, diabetes, coronary heart disease, early baldness (men) and oligomenorrhea (women) in first-degree relatives of PCOS patients were 32.4%, 11.9%, 8.1%, 19.1% and 30.5% (20.3%, 4.4%, 2.4%, 7.8%, 1.9%, all P <0.05). The odds ratios for OR were 1.87, 2.958, 3.541, 2.794 and 22.137 respectively. According to the Falconer formula, the heritability was calculated as 41.1% of obesity, 47.5% of diabetes, 48% of coronary heart disease, 53.3% of early baldness, 87% of menstrual thinning and 12% of hypertension. Conclusion: Obesity, diabetes mellitus, coronary heart disease, early male baldness and female oligomenorrhea in first-degree relatives of PCOS patients may be the independent genetic phenotype of PCOS. Genetic factors play a leading role in menstrual thinning, the role of environmental factors in other phenotypes is even more important.