896例Klinefelter综合征遗传学诊断与临床分析  

Genetic diagnosis and clinical analysis of Klinefelter syndrome in 896 cases

作　　者：刘兴章[1] 刘晃[1] 郑立新[1] 唐运革[1] 张欣宗[1] 邓顺美[1] 李铭臻[1] 钟安[1] 赵文忠[1] LIU Xingzhang;LIU Huang;ZHENG Lixin;TANG Yunge;ZHANG Xinzong;DENG Shunmei;LI Mingzhen;ZHONG An;ZHAO Wenzhong(NHC Key Laboratory of Male Reproduction and Genetics,Family Planning Research Institute of Guangdong Province,Guangzhou,Guangdong 510600,China)

机构地区：[1]广东省计划生育科学技术研究所国家卫生健康委员会男性生殖与遗传重点实验室,广东广州510600

出　　处：《中国优生与遗传杂志》2021年第6期818-820,共3页Chinese Journal of Birth Health & Heredity

基　　金：广东省医学科学技术研究基金项目(A2020438)。

摘　　要：目的通过对896例Klinefelter综合征患者进行细胞及分子遗传学分析,探讨其遗传及临床特点。方法外周血淋巴细胞染色体核型分析,PCR扩增Y染色体长臂上AZF基因位点。结果患者睾丸体积减少,身高显著高于同期成年男性平均身高,患者指间距显著大于身高。患者卵泡刺激素(FSH)、黄体生成素(LH)明显升高,T水平降低。典型染色体核型(47,XXY)869例,占97.0%,AZF微缺失3例,占0.3%,精子检出率为1.8%。结论Klinefelter综合征具有典型高促性腺激素性性腺功能减退症特点,典型染色体核型(47,XXY)占绝大多数,可同时存在染色体核型的其他异常改变。Klinefelter’s综合征患者伴有Y染色体微缺失可能性低。少数患者存在部分生精功能。Objective To investigate the genetic and clinical characteristics of 896 patients with Klinefelter syndrome by cytogenetic and molecular genetic analysis.Methods Chromosome karyotype analysis of peripheral blood lymphocytes was performed,and PCR amplified the AZF locus on the long arm of Y chromosome.Results The volume of testes was lower,the height of patient’s was significantly higher than that of the average adult male height of the same period,and the Length of fingers spacing was significantly longer than the height of patient.The plasma levels of FSH and LH were elevated.The plasma levels of testosterone were low.There were 869 patients with usual karyotype(47,XXY)(97.0%),and There were 3 patients with Y Chromosome microdeletion(0.3%).There were 16(1.8%)patients with Severe oligozoospermia or cryptozoospermia.Conclusion The KFS patients have feature of hypergonadotropic hypogonadism.and the KFS patients with usual karyotypes(47,XXY)accounting for the majority,and other abnormal chromosome numbers(aneuploidy)and structural chromosomal aberrations are unusually found.The patients with Y chromosome microdeletions are rarely observed among the KFS patients.The spermatozoa detected semen analysis or after centrifugation of semen specimen of the KFS patients was rarely observed.

关 键 词：KLINEFELTER综合征 染色体核型分析 男性不育 无精子症 

分 类 号：R697.22[医药卫生—泌尿科学]