Turner综合征的细胞遗传学、性激素与临床表型关系探讨  

Turner syndrome of cytogenetics,the relationship between sex hormones and clinical phenotypes

作　　者：姜雪燕[1] 李小兵[1] 

机构地区：[1]金华市中心医院儿一科,浙江金华321000

出　　处：《中国优生与遗传杂志》2017年第6期42-43,46,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨Turner患者的染色体异常、性激素与临床表型的关系。方法对我院2012年1月以来68例Tuener综合征女性儿童患者进行外周血染色体核型分析和性激素检查。结果 68例Turner综合征患者,进行了外周血染色体核型分析检查,其中X染色体数目异常36例(52.94%),X染色体结构异常24例(35.29%),X染色体数目及结构均异常7例(10.29%),含Y染色体46,XY 1例(1.47%)。Turner患者的FSH明显高于正常对照组,E_2和P明显低于正常对照组,LH和RPL无明显差异。结论结合临床体征、染色体和性激素检查可以为Turner患者寻找病因提供理论依据,而且有利于指导治疗。Objective： On patients with Turner chromosomal anomalies, the relationship between sex hormones and clinical phenotypes. Methods： Since January 2012 in our hospital 68 cases of female Tuener syndrome children patients with peripheral blood chromosome karyotype analysis and sex hormone tests. Results： Among 68 patients with Turner syndrome, peripheral blood karyotype analysis examination, including 36 cases （52.94%） , X chromosome aneuploidy X chromosome structural abnormalities 24 cases （35.29%） , abnormal X chromosome number and structure of all 7 cases （10.29%） , including 46, the Y chromosome XY 1 cases （1.47%） .Turner FSH of patients was obviously higher than that of normal control group, E2 and P significantly lower than the normal control group, no obvious difference was found between LH and RPL. Conclusion： In combination with clinical signs, chromosome, and sex hormone check can provide theoretical basis for Turner patients to find the cause, but also to guide treatment.

关 键 词：TURNER综合征 染色体核型分析 临床表型 性激素 

分 类 号：R725.9[医药卫生—儿科]