Turner综合征研究进展  

Progress in Turner syndrome

作　　者：金华盛(综述)[1] 王秀敏(审校)[1] 

机构地区：[1]浙江大学医学院附属儿童医院内分泌科,杭州310003

出　　处：《国际儿科学杂志》2012年第4期396-399,共4页International Journal of Pediatrics

基　　金：浙江省卫生厅2011创新学科平台项目（青春期医学11-CX24）

摘　　要：Turner综合征（Turner syndrome，TS）是性染色体数目或结构异常所致的性染色体病。其临床症状主要包括生长迟滞、心血管疾病、性腺发育不全等。内源性生长激素的反应受损，以及矮身材同源结构域包含基因的单倍体剂量不足共同导致了生长迟滞。先天性心脏病和早发的冠心病，尤其是主动脉夹层瘤增加了TS的病死率。针对患者生长迟滞和性腺发育不全的治疗方法主要是生长激素刺激生长和雌激素诱导替代；尽早进行生长激素治疗和早期低剂量雌激素治疗，可使TS患者的成年终身高达最大化。Turner Syndrome is a sex chromosome disease associated with loss of an entire sex chromosome or a portion of the X chromosome containing the tip of its short arm. The common clinical features are short stature, cardiovascular disease and gonadal dysgenesis. Short stature is due to the impaired response to endogenous GH and SHOX （ short-stature homeobox） haploinsufficiency. Congenital heart disease and coronary heart disease, especially the aortic aneurysm, made higher mortality in Turner syndrome. Treatment for short stature are GH and treatment for gonadal dysgenesis is gonadal hormone replacement. New studies demonstrated that adult height could be maximized if GH therapy begun at a young age with early,ultra-low-dose estrogen in girls with Turner syndrome.

关 键 词：TURNER综合征 生长迟滞 心血管疾病 替代治疗 

分 类 号：R711.75[医药卫生—妇产科学]