Progress in pathogenesis, diagnosis, and treatment of X-linked acrogigantism syndrome / 中华内分泌代谢杂志

ABSTRACT

X-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.