Progress in pathogenesis, diagnosis, and treatment of X-linked acrogigantism syndrome
10.3760/cma.j.cn311282-20200407-00256
- VernacularTitle:X连锁肢端肥大性巨人症的发病机制及临床诊疗进展
- Author:
Meiping CHEN
1
;
Huijuan ZHU
Author Information
1. 中国医学科学院，北京协和医学院，北京协和医院内分泌科，卫健委内分泌重点实验室，转化医学中心 100730
- From:
Chinese Journal of Endocrinology and Metabolism
2020;36(11):975-978
- CountryChina
- Language:Chinese
-
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.
