摘要
Abstract
With the continuous advancement of new technologies,the field of pediatric diseases of endocrinology and genetic metabolism in China is undergoing a profound transformation,shifting from traditional phenotypic descriptions to molecular subtyping,from hormone replacement to targeted interventions,and from single-dimension diagnosis and treatment to integrated health management.Centered on the three key concepts of"precision diagnosis,targeted therapy and systematic management",this article reviews the controversies,progress,and future perspectives in five common endoc rine disorders.In the field of type 1 diabetes mellitus,biomarkers and artificial intelligence models facilitate early identification,while teplizumab represents a novel approach to immune intervention.In growth and skeletal disorders,molecular pathway-based classification is reshaping the diagnostic landscape,and targeted therapies such as anti-FGF23 monoclonal antibodies have achieved a transition from replacement to source intervention;however,the long-term benefits of novel drugs are still in lack.The diagnosis and treatment of disorders of sex development are evolving from chromosomal karyotyping to network-based genetic analysis;while gene editing and organoid technologies offer promise,they also present ethical challenges,with clinical controversies centering on the timing of surgical intervention and models of psychological intervention,and new therapies are expected to have breakthroughs.The diagnosis and management of childhood obesity is shifting toward multi-dimensional phenotyping and systematic stratified intervention,but lifestyle modification remains the cornerstone,and targeted pharmacotherapies provide new options for specific child patients.Precision management of thyroid diseases is advancing toward multi-dimensional assessment,with targeted drugs and risk stratification tools offering new directions for individualized treatment.However,the application of new technologies and methods still requires further research and validation.Future efforts should focus on real-world studies,ethical governance,and multidisciplinary collaboration.关键词
内分泌/精确诊断/靶向治疗/系统管理Key words
endocrinology/precision diagnosis/targeted therapy/systematic management分类
医药卫生
