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1 089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:1 089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<10 μg/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常范围；部分年龄≥8岁的患儿可出现自发性性发育。部分患儿合并躯体特征，先天性心血管、泌尿系统异常，下丘脑-垂体-IGF1轴功能异常，少数出现糖耐量受损和糖尿病。大多数患儿确诊后应用了rhGH治疗，少数患儿开始了性激素替代治疗。

abstractsObjective:To investigate the clinical characteristics and management status of children with Turner syndrome (TS) in China.Methods:As a cross-sectional study, 1 089 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.Results:Among the 1 089 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 <10 μg/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 (OGTT) test, 2 were diagnosed with diabetes mellitus and 4 with impaired glucose tolerance. Following diagnosis, 669 cases (80.7%) received rhGH treatment at a chronological age of (9±4) years and bone age of (8.3±3.2) years. Additionally, 112 cases (19.4%) received sex hormone replacement therapy starting at the age of (14±4) years and bone age of (12.6±1.2) years.Conclusions:The karyotypes of 45, X and mosaicism were most common in Chinese children with TS. The clinical manifestations were mainly short stature and gonadal dysplasia. However, a few TS children could be in the normal range of height, and some cases among those aged of ≥8 years old had spontaneous sexual development. Some exhibited physical features, congenital cardiovascular and urogenital anomalies, and dysfunction of the hypothalamic-pituitary-IGF1 axis. Moreover, a few of them developed impaired glucose tolerance and diabetes mellitus. Following diagnosis, most of the patients received rhGH treatment, and a few of them received sex hormone replacement therapy.