β型甲状腺激素抵抗综合征  

The Syndromes of Resistance to Thyroid Hormone Beta

作　　者：王黄曼 单忠艳[1] 滕晓春[1] WANG Huangman;SHAN Zhongyan;TENG Xiaochun(Department of Endocrinology and Metabolism,Key Laboratory of Diagnosis and Treatment of Thyroid Diseases of National Health Commission,the First Affiliated Hospital of China Medical University,Shenyang 110001,China)

机构地区：[1]中国医科大学附属第一医院内分泌与代谢病科,国家卫生健康委员会甲状腺疾病诊治重点实验室,沈阳110001

出　　处：《罕见病研究》2023年第3期331-336,共6页Journal of Rare Diseases

基　　金：国家自然科学基金(82270831,81970681)。

摘　　要：甲状腺激素抵抗综合征(RTH)是甲状腺激素受体(TR)基因突变,导致器官对甲状腺激素(TH)的敏感性降低,TH对全身组织器官作用障碍的一种罕见综合征。THRB基因突变导致的RTH称为β型甲状腺激素抵抗综合征(RTHβ)。RTHβ主要特点是循环血中甲状腺素(T_(4))升高、三碘甲腺原氨酸(T_(3))水平正常或升高、促甲状腺激素(TSH)水平正常或轻度升高,临床上RTHβ容易被误诊为甲状腺功能亢进症,予以抗甲状腺药物、放射性131 I治疗或手术治疗,进而导致TH抵抗加重,因此对该病的正确诊断非常重要。本文对RTHβ的分子机制、临床特征、诊断及治疗予以归纳并总结。The syndrome of resistance to thyroid hormone(RTH)is a rare syndrome caused by the mutation of thyroid hormone receptor(TR)gene,which reduces the sensitivity of target organs to thyroid hormone(TH)and leads to the dysfunction of TH.Thyroid hormone resistance syndrome β(RTHβ)is caused by the mutations in the THRB gene.The main characteristics of RTHβare increased thyroxine(T_(4))in the circulating blood,normal or elevated levels of triiodothyronine(T_(3)),paired with normal or high thyroid-stimulating hormone(TSH)concentration.Clinically,it is easy to misdiagnose RTHβas hyperthyroidism,and give anti-thyroid drugs,radioactive 131 I therapy or surgery,which then leads to the aggravation of TH resistance,so the correct diagnosis of the disease is critical.In this paper,the molecular mechanism,clinical characteristics,diagnosis and treatment of RTHβare summarized.

关 键 词：甲状腺激素抵抗综合征 THRB基因突变 甲状腺激素 

分 类 号：R581[医药卫生—内分泌]