148例Turner综合征患者临床与细胞遗传学研究  

Clinical and cytogenetic analysis of 148 patients with Turner syndrome

作　　者：李川[1] 范歆[1] 罗静思[1] 钱家乐[1] 欧珊[1] 陈少科[1] 

机构地区：[1]广西壮族自治区妇幼保健院遗传代谢实验中心,广西南宁530012

出　　处：《中国妇幼保健》2014年第22期3630-3633,共4页Maternal and Child Health Care of China

基　　金：国家科技支撑计划课题基金资助〔2012BAI09B00〕

摘　　要：目的：通过收集并分析Turner综合征（TS）患者的临床资料及染色体核型,进一步加强对TS患者临床特征及染色体异常分布特点的认识,回顾生长激素治疗TS所致身材矮小的疗效。方法：收集广西妇幼保健院1988~2013年以身材矮小、原发性或继发性闭经、不孕等原因就诊,并经遗传咨询和染色体核型综合分析确诊的TS患者。统计各临床特征及异常核型在TS患者中的分布情况。结果：共确诊了TS患者148例。首诊原因以身材矮小及原发性闭经为主,分别占34.7%和31.4%。148例TS患者中发现22种染色体核型,其中单体占37.16%。含Y染色体9例,4例行SRY基因检测,结果为阳性并经手术切除卵/睾组织。结论：身材矮小是TS的主要临床表现,并成为儿童期的主要就诊原因,而成人期则以闭经和第二性征不发育为主诉,细胞遗传学分析仍为确诊的主要手段。含Y染色体且SRY基因阳性的TS患者多存在卵/睾组织,一旦诊断应尽早通过影像学或手术探查寻找卵/睾组织并予预防性性腺切除术。Objective： To analyze the clinical data and chromosomal karyotype of patients with Turner syndrome （TS） by data collection, strengthen the cognition of clinical characteristics and distribution characteristics of chromosomal abnormalities of TS patients, retrospectively analyze the curative effect of growth hormone in treatment of TS - induced short stature. Methods： TS patients diagnosed definitely by genetic consultation and comprehensive analysis of chromosomal karyotypes with short stature, primary or secondary amenorrhea, infertility as chief complaints were collected in the hospital from 1988 to 2013. The clinical characteristics and distribution of abnormal karyotypes in TS patients were analyzed statistically. Results： A total of 148 TS patients were diagnosed definitely; the main chief complaints at the first attendance to the doctors were short stature and primary amenorrhea, accounting for 34.7% and 31.4%, respectively. Among 148 TS patients, a total of 22 chromosomal karyotypes were found, the proportion of monosome accounted for 37.16%. Nine patients were found with Y chromosome, 4 patients underwent SRY gene detection, egg/testosterone tissues were removed by surgery among the positive patients. Conclusion： Short stature is the main chief complaint in TS patients, specially during childhood; among the adult TS patients, amenorrhea and nondevelopment of secondary sex characters were the main chief complaints, cytogenetic analysis is still the main method for definite diagnosis. Egg/testosterone tissues exist in the TS patients with Y chromosome and positive SRY gene, imaging or surgical exploration should be conducted as soon as possible if definite diagnosis is obtained to find egg/testosterone tissues and conduct preventive gonadectomy.

关 键 词：TURNER 综合征 染色体核型 身材矮小 闭经 不孕 

分 类 号：R714[医药卫生—妇产科学]