儿童特纳综合征1089例临床特征及诊治现状  

Clinical characteristics and management status of Turner syndrome in 1089 children

作　　者：梁雁[1] 卫海燕[2] 陈瑞敏[3] 张知新[4] 程昕然 陶娜[6] 王春林[7] 杨玉[8] 辛颖[9] 范歆[10] 张星星[11] 刘戈力[12] 成胜权 朱岷[14] 杜红伟[15] 孙妍 陈临琪[17] 崔岚巍[18] 罗小平[1] Liang Yan;Wei Haiyan;Chen Ruimin;Zhang Zhixin;Cheng Xinran;Tao Na;Wang Chunlin;Yang Yu;Xin Ying;Fan Xin;Zhang Xingxing;Liu Geli;Cheng Shengquan;Zhu Min;Du Hongwei;Sun Yan;Chen Linqi;Cui Lanwei;Luo Xiaoping(Department of Pediatrics,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology(HUST),Hubei Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases,Wuhan 430030,China;Department of Endocrinology,Genetics and Metabolism,Children′s Hospital Affiliated to Zhengzhou University,Zhenzhou 450000,China;Department of Endocrinology,Genetics and Metabolism,Fuzhou Children′s Hospital of Fujian Medical University,Fuzhou 350000,China;Department of Pediatrics,China-Japan Friendship Hospital,Beijing 100029,China;Department of Endocrinology,Genetics and Metabolism,Chengdu Women′s and Children′s Central Hospital,School of Medicine,University of Electronic Science and Technology of China,Chengdu 611731,China;Department of Endocrinology and Genetic Metabolism,Kunming Children′s Hospital,Kunming Medical University Children′s Hospital,Kunming 650034,China;Department of Pediatrics,the First Affiliated Hospital,Zhejiang University School of Medicine,Hangzhou 311121,China;Department of Endocrinology,Genetics and Metabolism,Jiangxi Provincial Children′s Hospital,Jiangxi Province Key Laboratory of Children Development,Nanchang 330006,China;Department of Pediatrics,Shengjing Hospital of China Medical University,Shenyang 110004,China;Department of Pediatric Endocrinology and Genetics,the Second Affiliated Hospital of Guangxi Medical University,Nanning 530006,China;Department of Paediatrics,the Second Xiangya Hospital,Central South University,Changsha 410011,China;Department of Pediatrics,Tianjin Medical University General Hospital,Tianjin 300052,China;Department of Paediatrics,Xijing Hospital,Air Force Medical University,Xian 710032,China;Department of Endocrinology,Genetics and Metabolism,Children′s Hospital of Chongqing Medical University,Chongqing 400014,China;Department of

机构地区：[1]华中科技大学同济医学院附属同济医院儿科,儿童遗传代谢内分泌罕见病,湖北省重点实验室,武汉430030 [2]郑州大学附属儿童医院内分泌遗传代谢科,郑州450000 [3]福建医科大学附属福州儿童医院内分泌遗传代谢科,福州350000 [4]中日友好医院儿科,北京100029 [5]电子科技大学医学院附属妇女儿童医院,成都市妇女儿童中心医院内分泌遗传代谢科,成都611731 [6]昆明市儿童医院,昆明医科大学附属儿童医院内分泌遗传代谢科,昆明650034 [7]浙江大学医学院附属第一医院儿科,杭州311121 [8]江西省儿童医院内分泌遗传代谢科,儿童发育江西省重点实验室南昌330006 [9]中国医科大学附属盛京医院儿科,沈阳110004 [10]广西医科大学第二附属医院儿科内分泌遗传专科,南宁530006 [11]中南大学湘雅二医院儿科,长沙410011 [12]天津医科大学总医院儿科,天津300052 [13]空军军医大学西京医院儿科,西安710032 [14]重庆医科大学附属儿童医院内分泌遗传代谢科,重庆400014 [15]吉林大学第一医院儿科,长春130021 [16]山东第一医科大学附属省立医院儿科,济南250021 [17]苏州大学附属儿童医院内分泌遗传代谢科,苏州215000 [18]哈尔滨医科大学附属第六医院儿科,哈尔滨150023

出　　处：《中华儿科杂志》2024年第10期962-968,共7页Chinese Journal of Pediatrics

基　　金：国家重点研发计划(2023YFC2706300)。

摘　　要：目的了解中国儿童特纳综合征(TS)的临床特征及诊疗情况。方法横断面研究。选择2019年8月至2023年11月全国特纳综合征诊疗协作联盟数据平台录入的1089例TS患儿为研究对象,对其临床特征(生长发育情况、性发育情况、系统器官畸形等)、核型分布、实验室检查及治疗现状等进行回顾性分析。结果1089例TS患儿中809例详细记录了核型,其中45,X 317例(39.2%),X染色体结构变异89例(11.0%),45,X/46,XX嵌合体158例(19.5%),伴X染色体结构变异的嵌合体209例(25.8%),含有Y染色体物质36例(4.4%)。824例患儿的确诊年龄为9.7(6.4,12.2)岁。确诊时患儿的身高标准差积分为-3.1±1.2,553例患儿行生长激素激发试验,其中352例(63.7%)生长激素峰值<10μg/L;760例患儿行胰岛素样生长因子1(IGF1)检测,577例(75.9%)IGF1水平低于正常,290例(38.2%)IGF1标准差积分≤-2。471例年龄≥8岁的患儿中,132例(28.0%)出现自发性性发育,10例出现自发性月经,2例有规律的月经周期。自发性性发育和自发性月经初潮的患儿骨龄分别为(11.0±1.7)、(12.0±2.2)岁。患儿相对常见的躯体特征为肘外翻311例(28.5%)、颈蹼188例(17.2%)、后发际低185例(17.0%)、盾状胸153例(14.0%)、腭弓高窄127例(11.6%)、第4掌骨短43例(3.9%)、脊柱异常38例(3.5%)等。合并先天性心血管异常和泌尿系异常的患儿分别为91例(19.4%)和66例(12.0%)。33例(7.2%)患儿肝脏超声提示存在脂肪肝、肝大、肝内胆管结石、合并脾大等。23例行糖耐量试验的患儿中,有2例诊断糖尿病、4例存在糖耐量异常。669例(80.7%)患儿确诊后应用了重组人生长激素(rhGH)治疗,起始治疗年龄为(9±4)岁,骨龄(8.3±3.2)岁。112例(19.4%)患儿进行了性激素替代治疗,起始治疗年龄为(14±4)岁,骨龄(12.6±1.2)岁。结论中国儿童TS的核型以45,X单体和嵌合体为主,临床主要表现为身材矮小(呈矮胖体型)和性腺发育不良。少数患儿身高可在正ObjectiveTo investigate the clinical characteristics and management status of children with Turner syndrome(TS)in China.MethodsAs a cross-sectional study,1089 TS patients were included in the database of the National Collaborative Alliance for the Diagnosis and Treatment of Turner Syndrome from August 2019 to November 2023.Clinical characteristics(growth development,sexual development,organ anomalies,etc.),karyotypes,auxiliary examinations,and treatments were collected and analyzed.ResultsAmong the 1089 TS cases,809 were recorded karyotypes.The karyotype distribution was as follows:45,X in 317 cases(39.2%),X chromosome structural variants(including partial deletions of p or q arm,ring chromosome,and marker chromosome)in 89 cases(11.0%),45,X/46,XX mosaicism in 158 cases(19.5%),mosaicism with X chromosome structural variants in 209 cases(25.8%),and presence of Y chromosome material in 36 cases(4.4%).Among the 824 TS cases,the age of diagnosis was 9.7(6.4,12.2)years,with a height standard deviation score(HtSDS)of-3.1±1.2.Five hundred and fifty three cases underwent growth hormone(GH)stimulation test,and 352 cases(63.7%)had GH peak values<10μg/L and 75.9%(577/760)had low IGF1 levels,with IGF1 SDS≤-2 accounting for 38.2%(290 cases).Among 471 cases aged≥8 years,132 cases(28.0%)showed spontaneous sexual development(mean bone age(11.0±1.7)years),10 cases had spontaneous menarche(mean bone age(12.0±2.2)years),and 2 cases had regular menstrual cycles.Common physical features included cubitus valgus(311 cases(28.5%)),neck webbing(188 cases(17.2%)),low posterior hairline(185 cases(17.0%)),shield chest(153 cases(14.0%)),high arched palate(127 cases(11.6%)),short fourth metacarpal(43 cases(3.9%)),and spinal abnormalities(38 cases(3.5%)).Congenital cardiovascular and urogenital anomalies occurred in 91 cases(19.4%)and 66 cases(12.0%)respectively.Abdominal ultrasound in 33 cases(7.2%)indicated fatty liver,hepatomegaly,intrahepatic bile duct stones,and splenomegaly.Among 23 cases undergoing oral glucose tolerance test(OGT

关 键 词：特纳综合征 核型分析 合并症 诊断 治疗 

分 类 号：R725.9[医药卫生—儿科]