Chinese expert consensus on the diagnosis and treatment of children with idiopathic short stature

doi:10.19538/j.ek2023110601

Chinese Journal of Practical Pediatrics ›› 2023, Vol. 38 ›› Issue (11): 801-813.DOI: 10.19538/j.ek2023110601

Online:2023-11-06 Published:2023-11-01

儿童特发性矮身材诊断与治疗中国专家共识

执笔：陈佳佳，曹冰燕，巩纯秀，杜函泽，潘慧，邱文娟，范歆，吴蔚，吴薇
参与制订的专家名单（按单位名称首字拼音及姓氏拼音顺序排序）：安徽医科大学第二附属医院（刘德云）；北京积水潭医院（万乃君）；长春市儿童医院（刘静）；成都市妇女儿童中心医院（程昕然）；重庆医科大学附属儿童医院（朱岷）；大连市妇女儿童医疗中心（集团）（常波）；福建医科大学附属福州儿童医院（陈瑞敏）；福州省妇幼保健院（郭敬民）；广西医科大学第二附属医院（范歆）；广西医科大学第一附属医院（蓝丹）；贵阳市妇幼保健院（刘毓）；哈尔滨医科大学附属第六医院（崔岚巍）；河北省儿童医院（刘丽君）；河北医科大学第二医院（张会丰）；河南省儿童医院（卫海燕）；河南中医药大学第一附属医院（郑宏）；湖南省儿童医院（钟燕）；华中科技大学同济医学院附属同济医院（罗小平，吴薇）；江西省儿童医院（杨玉，杨利）；吉林大学第一医院（杜红伟）；吉林大学第二医院（邢杰）；昆明市儿童医院（陶娜）；兰州大学第二医院（张红晓）；南京市儿童医院（顾威）；青岛妇女儿童医院（李堂）；山东第一医科大学附属省立医院（山东省立医院）（李桂梅，孙妍）；上海交通大学医学院附属儿童医院（李嫔）；上海交通大学医学院附属上海儿童医学中心（王秀敏）；上海交通大学医学院附属新华医院（顾学范，韩连书，邱文娟）；复旦大学附属儿科医院（罗飞宏，俞建）；上海交通大学医学院附属瑞金医院（董治亚）；深圳市儿童医院（苏喆）；深圳市妇幼保健院（董国庆）；四川大学华西第二医院（吴瑾，杨凡）；首都儿科研究所（李辉，陈晓波）；首都医科大学附属北京儿童医院（曹冰燕，陈佳佳，巩纯秀）；苏州大学附属儿童医院（陈临琪）；天津医科大学总医院（郑荣秀）；西安交通大学第二附属医院（肖延风）；西安交通大学附属儿童医院（汪治华）；山西省儿童医院（宋文惠）；武汉市儿童医院（姚辉）；无锡市儿童医院（徐旭）；新疆维吾尔自治区儿童医院（郭红）；浙江大学医学院附属儿童医院（傅君芬，吴蔚）；中国医学科学院北京协和医院（杜函泽，潘慧，朱惠娟）；中国医科大学附属盛京医院（麻宏伟，辛颖）；中国人民解放军总医院（何玺玉）；中南大学湘雅二医院（张星星）；
中日友好医院（张知新）；中山大学附属第一医院（李燕虹）

通讯作者: 巩纯秀，电子信箱：chunxiugong@sina.com；罗小平，电子信箱：xpluo@tjh.tjmu.edu.cn

Abstract

Abstract: Idiopathic short stature（ISS）is a group of highly heterogeneous disorders that cause short stature but have no known etiology. ISS describes a state of short stature of unknown causes. To diagnose ISS，clinicians should exclude all known diseases by a complete evaluation，which is based on a combination of clinical history，physical examination，complete routine and endocrine laboratory tests and imaging examinations，and genetic testing with informed consent（recommend）. After a comprehensive and systematic diagnostic evaluation，the short stature still with unknown causes is defined as ISS. The treatment of ISS should involve the pediatric endocrinologist and the child's family in the decision-making of the treatment plan and course of treatment. In 2021，China's National Medical Products Administration （NMPA） approved human growth hormone （hGH） treatment for ISS. Treatment is recommended to be adjusted according to the growth response （the rate of height growth）. Gonadotropin-releasing hormone analogues （GnRHa） or aromatase inhibitors or recombinant insulin-like growth factor-1 （rhIGF-1） in combination with hGH are insufficient in evidence-based evidence for the treatment of ISS and are not recommended for routine use.

Key words: child, idiopathic short stature, diagnosis, treatment, expert consensus

摘要： 特发性矮身材（idiopathic short stature，ISS）是一组尚未明确病因、高度异质的导致身材矮小疾病的总称，描述的是暂时未明原因的身材矮小的状态。ISS为排除性诊断，临床医生需要结合临床病史及查体、实验室检查、影像学检查，并推荐进行知情同意下的遗传学检测获得病因。经全面系统地诊断性评估后仍未明确病因的矮小症被归为ISS。ISS的治疗应由儿科内分泌专科医生和患儿家庭共同参与决策，决定治疗的方案及疗程。2021年中国国家药品监督管理局批准人生长激素（human growth hormone，hGH）用于治疗ISS。建议根据生长反应即身高增长的速度调整治疗。促性腺激素释放激素类似物（gonadotropin-releasing hormone analogues，GnRHa）或芳香化酶抑制剂或重组胰岛素样生长因子-1（rhIGF-1）联合hGH等治疗ISS的循证医学证据不足，不推荐作为常规使用。

关键词: 儿童, 特发性矮身材, 诊断, 治疗, 专家共识

The Subspecialty Group of Endocrinology, Hereditary and Metabolic Diseases, the Society of Pediatrics, Chinese Medical Association, Adolescent Health and Medical Professional Committee, Chinese Medical Doctor Association, Futang Research Center of Pediatric Development, et al. Chinese expert consensus on the diagnosis and treatment of children with idiopathic short stature[J]. Chinese Journal of Practical Pediatrics, 2023, 38(11): 801-813.

中华医学会儿科学分会内分泌遗传代谢学组, 中国医师协会青春期健康与医学专业委员会, 福棠儿童医学发展研究中心, 等. 儿童特发性矮身材诊断与治疗中国专家共识[J]. 中国实用儿科杂志, 2023, 38(11): 801-813.

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