皖籍汉族多囊卵巢综合征的遗传流行病学分析.doc

皖籍汉族多囊卵巢综合征的遗传流行病学分析 【摘要】目的分析多囊卵巢综合征(PCOS)临床流行病学和遗传流行病学特征。方法采用调查表的方式对502例PCOS患者及其家系进行调查，同时结合临床检查。应用SPSS 11.5软件、Falconer公式对资料进行统计学处理和分析。研究从临床流行病学和遗传流行病学的角度分别分析安徽省汉族PCOS患者的临床特征和家族史对疾病的影响。结果①PCOS患者的临床流行病学特征：月经稀发发生率67.4％，多毛52.6％，痤疮40.1％，肥胖28.3％。PCOS患者男性家庭成员早秃发病率8.12％。实验室检查雄激素(T)水平(2.41±1.29)nmol/L，高雄激素血症占46.5％；B超卵巢多囊样改变占91.8％。②PCOS具有家族聚集性，有家族史的患者月经稀发程度较无家族史者严重，闭经发生率更高(18.9％)；激素水平上，T、黄体生成素(LH)值较无家族史者增高，差异有统计学意义，而月经初潮年龄、体重指数(BMI)、E2和LH/FSH(卵泡生成素)比值的增高无差别。③将有PCOS家族史的男性早秃视为PCOS在男性家庭成员中的遗传表型，得出先证者的一级和二级亲属的发病率分别为12.5％、9.8％，计算遗传度分别为37.3％和31.8％。结论遗传因素在PCOS易患性变异上有一定作用，但环境因素可能也起着重要的作用。 【关键词】 多囊卵巢综合征； 遗传； 流行病学【基金项目】 国家自然科学基金 Epidemiology of polycystic ovary syndrome of Chinese Han ethnic women in Anhui Province HU Pin, XU Yuping, ZHANG Xiaohui, CAO Yunxia, WEI Zhaolian, ZHOU Ping, GAO Guihua, TANG Zhixia. Reproductive Medicine Center, the First Affiliated Hospital of Anhui Medical University, Hefei 230022, China 【Abstract】 Objective To explore the clinic and genetic epidemiologic characteristics of polycystic ovary syndrome(PCOS). Methods Data for 502 patients with PCOS were obtained by questionaire, combined with clinic test. Statistic analysis, was performed using SPSS 11.5 and the Falconer method. Based on clinic and genetic profiles, the patients feature and the family history effect on the disease were described. Results ①The clinic epidemiologic data of PCOS: the rate of oligomenorrhoea was 67.4%, the occurrence of hirsutism and acne was 52.6% and 40.1% respectively，and obesitys ratio was 28.3%. Male alopecia was found in 8.12% of the male members in the family with PCOS history. In the lab test profile, the level of testosterone was (2.41±1.29)nmol/L, the ratio of androgen excess was 46.5%, meanwhile, 91.8% patients were diagnosed by the ultrasound with polycystic ovaries. ②PCOS seemed to display a familial clustering phenomenon, 40.0% patients having family history. The research showed that the degree of oligomenorrhoea was more serious in the patients wh