甲状腺激素抵抗综合征相关基因突变的研究进展

摘要

甲状腺激素抵抗综合征是机体组织器官对甲状腺激素反应性降低的一类综合征,以血清游离甲状腺素、三碘甲腺原氨酸升高和促甲状腺素升高或正常为基本特征,常表现为常染色体显性或隐形遗传,绝大多数是由甲状腺激素β受体基因突变所造成的.突变发生在甲状腺激素β受体基因的60多个密码子上,目前已发现突变位点将近130个,涉及340多个家系.现对其病因、发病机制、临床表现、诊断与治疗,尤其是相关基因突变的研究进展予以综述.%Thyroid hormone resistance syndrome is the reduced response of tissue and organ to thyroid hormone,characterized with the increase of serum free thyroxine and triiodothyronine, and elevated and normal thyroxine-stimulating hormone. Thyroid hormone resistance is usually in a autosomal dominant or recessive hereditary manner, caused by thyroid hormone β-receptor gene mutations in most cases. Mutations involve over 60 codons in thyroid hormone β-receptor gene. The mutation sites have been reported to be approximately 130 , involving over 340 Pedigrees. This article reviews the etiology , pathogenesis , clinical manifestations , diagosis , and treatment of thyroid hormone resistance , in addition to research progress in relevant gene mutations.