Turner综合征的实验临床综合研究  

The clinical analysis of Turner syndrome

作　　者：江静[1] 傅曼芬[1] 王伟[1] 孙文鑫[1] 董治亚[1] 倪继红[1] 陈凤生[1] 王德芬[1] 

机构地区：[1]上海第二医科大学瑞金医院儿内科,上海200025

出　　处：《中国优生与遗传杂志》2005年第11期48-49,51,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的 研究Turner综合征的终身高、生长激素水平、学历和性发育的变化。方法 239例Turner综合征进行染色 体检查,68例行生长激素激发试验,45例随访学历和性发育的情况。结果 染色体核型分4组,第1组45,X,95例;第2组嵌 合型64例;第3组X染色体结构畸变74例;第4组伴有Y染色体6例。终身高139．2±8．3cm。生长激素完全缺乏18例。部分 缺乏34例,正常16例。随访45例中,学历大部分在初中、技校和中专19例有不同程度的性发育,26例无性发育。结论 Turner综合征患者终身高明显低于正常人群,生长激素分泌低下,学习能力降低,性发育不全。Objective：To research change the terminal height, the level of growth hormone, sexual development and record of fmmal schooling in Turner syndrome（TS）. Methods： Karyotyping, growth hormone provocation tests, follow- up observations of schooling record and sexual development were studied. Results-239 TS were karyotyped in 4 groups：Ⅰ, 45, Ⅹ, 95; Ⅱ, mosaicism, 64; Ⅲ, with various aberrations of structure of Ⅹ Chromosome,74, Ⅳ, with Y chromosome, 6. Terminal heights were 139.2 ± 8.3cm. 68 growth hormone tests, Growth hormone deficiency 18, part of deficiency 34 and normal 16. In the follow - up survey of 45 TS, record of formal schooling were mainly junior middle school, skill school and special school. 19 had various of degree sexual development and 26 had no. Conclusion- The terminal heights of TS were marked lower than normal, Growth hormone was deficiency, learning ability decline, hypoplasia of sex gland.

关 键 词：TURNER综合征 终身高 学历 性发育 

分 类 号：R725.9[医药卫生—儿科]