摘要X连锁肢端肥大性巨人症(X-LAG)综合征是新近描述的由于Xq26.3微重复和G蛋白偶联受体101(GPR101)突变导致的早发性巨人症。与其他原因所致巨人症不同，X-LAG综合征发病年龄早，且具有特殊的组织病理学表现和严重的临床表型，早期识别、诊断和临床管理尤为重要且极具挑战性，本文对目前已有关于X-LAG综合征的研究进展进行综述，以期为该病机制的进一步研究和临床诊疗提供理论依据。

abstractsX-linked acrogigantism (X-LAG) syndrome is a newly described early-onset giant disease caused by a duplication of the X chromosome q26.3 and a mutation in the G protein-coupled receptor 101(GPR101) gene. Unlike other causes of gigantism, X-LAG syndrome is characterized by early onset, and has special histopathological manifestations and severe clinical phenotype. Early identification, diagnosis, and clinical management are particularly important and challenging. This article reviews the current research progress of X-LAG syndrome, in order to provide theoretical basis for further research and clinical diagnosis and treatment of the disease.