促甲状腺素受体基因与甲状腺功能亢进症相关性研究进展  

Progress in the correlation between thyroid stimulating hormone receptor gene and hyperthyroidism

作　　者：马晓丹[1] 毛晓健[1] 

机构地区：[1]广州医科大学附属广州市妇女儿童医疗中心遗传与内分泌科,510623

出　　处：《中华实用儿科临床杂志》2016年第8期634-637,共4页Chinese Journal of Applied Clinical Pediatrics

基　　金：广州市妇女儿童医疗中心博士启动基金（201008）

摘　　要：甲状腺功能亢进症（简称甲亢）病因目前尚不完全明确。促甲状腺素受体（TSHR）基因是甲亢病因的研究热点之一。本研究对TSHR基因与甲亢相关性研究进展进行了总结分析，结果提示TSHR基因胚系突变会引起家族性非自身免疫性常染色体显性遗传性甲亢和持续性、散发性、先天性非自身免疫性甲亢的发生，需要特别关注，以期早期诊断和治疗。此外，TSHR基因变异可能会破坏TSHR的稳定性，从而成为自身抗原引起TSHR抗体（TRAb）的产生，刺激甲状腺滤泡分泌过多的甲状腺激素，从而引起Graves病。但TSHR基因与Graves病发病的关系仍需更加深入的研究。The cause of hyperthyroidism is still not clear. Thyroid stimulating hormone receptor（TSHR） gene is one of the hot topic genes in the etiology of hyperthyroidism. In this review paper, the progress of correlation between TSHR gene and hyperthyroidism was summarized. Results suggested that TSHR gene germline mutations could cause fa- milial non - autoimmune autosomal dominant hyperthyroidism and persistent sporadic congenital non - autoimmune hy- perthyroidism. In addition, TSHR gene mutation may also undermine the stability of the TSHR and then become the au-toantigens to make producing TSHR antibodies. Which can stimulate thyroid follicular to secrete excessive thyroid hor- mone and then cause Graves＇ disease. However, the relationship between TSHR gene and the pathogenesis of Graves＇ disease still needs further study.

关 键 词：促甲状腺素受体 基因 甲状腺功能亢进症 

分 类 号：R581.1[医药卫生—内分泌]