118例中国Turner综合征相关异常的临床分析  

Clinical analysis of 118 Chinese patients with Turner syndrome

作　　者：罗恋梅[1,2] 田秦杰[1] 徐苓[1] 

机构地区：[1]中国医学科学院北京协和医学院北京协和医院妇产科,北京100730 [2]清华大学第一附属医院妇产科,北京100016

出　　处：《生殖医学杂志》2012年第2期140-145,共6页Journal of Reproductive Medicine

摘　　要：目的总结先天性卵巢发育不良综合征(Turner syndrome,TS)的临床特征的异质性。方法回顾性分析北京协和医院1968年1月～2009年2月间就诊的TS患者共118例,分析其临床表现。结果染色体核型分4组,第1组45XO 29例(24.6%),第2组嵌合型11例(9.3%),第3组X染色体结构畸变49例(41.5%),第4组伴有Y染色体29例(24.5%)。随诊至20岁以上患者平均身高(146.4±6.9)cm,不同染色体组间无显著性差异。35例患者行超声心动图检查,7例(20.0%)发现心血管系统异常。24例患者行肾脏B超检查,3例(12.5%)发现肾脏异常。74例患者行甲状腺功能检查,33例(44.6%)有甲状腺功能异常。所有患者均进行肝肾功能检查,16例(13.6%)患者初诊发现肝功能异常,未发现肾功能异常。结论 TS患者合并甲状腺功能异常及肝功异常的比例较高,合并心血管及肾脏畸形的问题尚未得到足够重视,建议对TS患者常规行甲状腺功能、超声心动及肾脏超声检查。Objective： To analyze the heterogeneity of clinical characteristics in Chinese patients with Turner syndrome （TS）. Methods： Retrospective analysis of 118 patients diagnosed with Turner syndrome （TS） in Peking Union Medical College Hospital between Jan 1968 and Feb 2009 was performed. Results： One hundred and eighteen patients with TS were karyotyped into 4 groups： 45XO （29 patients, 24. 6%）, mosaic cases （11 patients, 9. 3%）, patients with structural aberrations of X chromosome （49 patients, 41.5%） and patients with Y chromosome （29 patients, 24.5%）. The patientsr （≥20 years） height was （146.4＋6.9） cm, which was shorter than the normal standard. No significant difference in height was observed among patients with different karyotypes. Thirty-five patients had echocardiography （UCG） examination, and 7 patients （20%） had cardiovascular abnormalities among them. Three of 24 patients （12.5%） had renal abnormalities under ultrasound. Seventy four patients had thyroid function test, of which 33 （44.6%） had abnormal results. Sixteen patients （13.6%） had abnormal hepatic function. Conclusions： A relatively higher percentage of patients with TS had abnormal thyroid and hepatic function, while cardiovascular and kidney abnormalities were also common suggested that the thyroid and hepatic function, cardiovascular risk and examined routinely in patients with TS.

关 键 词：TURNER综合征 核型 

分 类 号：R6[医药卫生—外科学]