Abstract

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 familial non-autoimmune autosomal dominant hyperthyroidism and persistent sporadic congenital non-autoimmune hyperthyroidism.In addition, TSHR gene mutation may also undermine the stability of the TSHR and then become the autoantigens to make producing TSHR antibodies.Which can stimulate thyroid follicular to secrete excessive thyroid hormone and then cause Graves' disease.However, the relationship between TSHR gene and the pathogenesis of Graves' disease still needs further study. Key words: Thyroid stimulating hormone receptor; Gene; Hyperthyroidism

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