摘要
促甲状腺素抵抗综合征是一种对正常生物活性的促甲状腺素分子敏感性下降的综合征。患者促甲状腺素水平升高,但不伴甲状腺肿。依抵抗程度不同,甲状腺激素水平可正常或降低。近年来促甲状腺素受体基因失活突变所致的促甲状腺素抵抗综合征已被逐步认识,促甲状腺素受体基因被认为是促甲状腺素抵抗综合征的候选基因之一。促甲状腺素受体基因突变已在22个家族中报道,证实是纯合子或混合性杂合子及杂合子突变。突变受体功能下降或丧失是由于与配体结合改变或在膜上表达缺陷。但多数促甲状腺素抵抗综合征家族,并没有促甲状腺素受体基因缺陷,还需进一步研究其他基因突变及相关环境因素。
TSH resistance syndrome is a syndrome of reduced sensitivity to TSH molecules with normal biological activities. The patients have elevated TSH levels without goiter. However, thyroid hormone concentration may vary from normal to very low, depending on the severity of the resistance, The TSH resistance syndrome caused by TSH receptor （TSHR） gene inactivating mutations has been recognized gradually in recent years, and the TSHR gene is considered to be one of the candidate genes involved in the syndrome. Mutations in the TSHR gene have been reported in twenty-two families with homozygous or compound heterozygous or heterozygous inheritance. The mutant TSHRs show reduced or no function because of either altered ligand binding or defect in membrane expression. A larger proportion of families presented with the phenotype of TSH resistance without TSHR gene defect, therefore, mutations in other genes and relating environmental factors should be further studied.
出处
《国外医学（妇幼保健分册）》
2005年第6期372-374,共3页
Foreign Medical Sciences (Section of Maternal and Child Health)
