Turner综合征的临床实验综合研究(英文)  

The Clinical Analysis of Turner Syndrome

作　　者：江静[1] 王伟[1] 傅曼芬[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》2006年第3期16-19,共4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±8.3?。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 formal 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 生长激素 学历 性发育 

分 类 号：R596[医药卫生—内科学]