Turner综合征自发性青春发育分析  

Retrospective analysis of spontaneous pubertal development of Turner syndrome

作　　者：丁曙霞[1] 张建萍[1] 俞小梅[1] 

机构地区：[1]宁波市妇女儿童医院儿科内分泌科,315010

出　　处：《中国优生与遗传杂志》2013年第11期44-45,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨先天性卵巢发育不全综合征(Turner syndrome,TS)患儿自发的青春发育与染色体核型及性激素水平之间的关系。方法 30例Turner综合征患儿进行染色体检查,评估第二性征及性腺发育情况,检测性激素水平。结果染色体核型分4组,第1组45,XO,10例;第2组嵌合型,9例;第3组X染色体结构畸变,10例;第4组伴有Y染色体,1例。30例患儿随访至15周岁,其中10例出现不同程度的自发性青春发育,20例呈无性发育,4组患儿中以嵌合型TS出现自发青春发育几率最大。有青春发育患儿的性激素水平与无性发育患儿的性激素水平有显著差异。结论 Turner综合征患儿自发性青春发育与染色体核型及性激素水平有密切相关性。Objective ： To investigate the relationship of spontaneous pubertal development, chromosome karyotype, gonadal hor- mone concentrations of Turner syndrome. Methods ： 30 cases with Turner syndrome were studied retrospectively, karyotype analysis, Detection of gonadal hormone concentrations, evaluation of secondary sex characteristic and development situation. Results ： Chromo- some karyotype points four groups. The first group 45, X, ten cases. The second group mosaicism, nine cases. The third groups of structural X chromosome abnormalities, ten cases. The fouth groups with Y chromosome in 1 case. 30 cases followed up to 15 years of age, 10 cases appeared different degree of spontaneous pubertal development, 20 cases of absent spontaneous pubertal development. Spontaneous pubertal development most likely appears in mosaicism type with normal gonadal hormone concentrations. Conclusion： Turner syndrome in children with spontaneous pubertal development has close correlation with chromosome karyotype and gonadal hor- mone concentrations.

关 键 词：先天性卵巢发育不全 自发的青春发育 染色体核型 性激素水平 

分 类 号：R725.9[医药卫生—儿科]