儿童特发性矮身材诊断与治疗中国专家共识

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

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。

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.