克氏综合征患者核型及血清性激素检测  

Analysis of karyotyping and serum sex hormone levels in Klinefelter syndrome patients

作　　者：汪明[1] 李锋[1] 李雯[2] 袁乐永[1] 乔斌[1] 熊格 姜树鹏 李艳[1] 

机构地区：[1]武汉大学人民医院检验科,武汉430060 [2]武汉大学人民医院血液科,武汉430060

出　　处：《中国优生与遗传杂志》2014年第11期56-57,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的分析克氏综合征患者血清性激素水平,为临床诊断克氏综合征提供参考依据。方法随机收集45例克氏综合征患者及50例健康男性对照,检测所有对象的血清性激素水平,进行比较分析。结果克氏综合征患者组血清卵泡刺激素和黄体生成素分别为(27.1±6.9)IU/L和(21.6±7.9)IU/L,均明显高于正常对照组(P<0.01);克氏综合征组睾酮(13.5±6.9)mmol/L,明显低于正常对照组(P<0.05);血清泌乳素在两组间差异无显著性(P>0.05)。结论血清性激素测定对克氏综合征的诊断有重要意义,患者存在明显的"两高一低"现象,即卵泡刺激素和黄体生成素升高,睾酮降低,可以用来提示克氏综合征并最终通过核型分析进行确诊。Objective：To investigate the serum levels of sex hormone such as follicle stimulating hormone（FSH）,luteinizing hormone（LH）,prolactin（PRL）and testosterone（T）in Klinefelter syndrome（KS）patients for the diagnosis of KS. Methods：A total of 45 KS patients and 50 healthy controls were studied by retrospective analysis. The serum samples were collected from all subjects and the karyotype were analyzed as well as the serum sex hormones levels. Results：Both serum levels of FSH（27.1±6.9）IU/L and LH（21.6±7.9）IU/L,increased simultaneously in KS group compared to controls（P〈0.01）and serum T level（13.5±6.9）mmol/L,decreased significantly（P〈0.05）. There was no significant difference in serum PRL level between KS patients and controls. Conclusion：The higher serum FSH and LH levels and the lower serum T level are characteristic in KS patients and should be used to aid of diagnosis for KS.

关 键 词：克氏综合征 性激素 染色体 核型分析 

分 类 号：R596.1[医药卫生—内科学]