Turner综合征患者糖代谢紊乱发病机制的研究进展

Recent Advances in Pathogenesis of Turner Syndrome and Glucose Metabolism

Turner综合征(TS)是由全部或部分体细胞中一条X染色体完全或部分缺失或者X染色体存在其他结构异常所致,是常见的染色体异常疾病之一,其主要临床特征为生长发育迟缓及原发性闭经。染色体异常、生长激素及雌激素替代治疗是影响TS患者出现糖代谢紊乱的重要因素。TS患者的糖代谢紊乱逐年递增,主要表现为糖耐量受损、胰岛素抵抗、胰岛素敏感性降低以及胰岛β细胞功能受损,并逐步发展为糖尿病。在TS患者长期的治疗过程中,尽早监测胰岛功能,可使TS患者的糖尿病得到早期治疗干预,从而提高生活质量。

Turner syndrome(TS)is caused by the complete or partial deletion of an X chromosome in all or part of a somatic cell,or other structural abnormalities of the X chromosome.It is one of the common chromosomal disorders,and its main clinical features are growth retardation and primary amenorrhea.Chromosome abnormality,growth hormone and estrogen replacement therapy are the important factors affecting the disorder of glucose metabolism in the TS patients.Disturbances of glucose in the TS patients are increasing year by year,mainly manifested as impaired glucose tolerance,insulin resistance,decreased insulin sensitivity,impaired isletβ-cell function,which gradually progress to diabetes.In the long-term treatment of the TS patients,early monitoring of pancreatic islet function can enable early diagnosis and treatment of diabetes in the TS patients,thereby improving the quality of life.