%0 Journal Article
%T TRβ基因突变致甲状腺激素抵抗综合征并桥本甲状腺炎1例及文献复习
%A 王晓蓉　王芳　朱绪华　付正菊　王颜刚　吕文山
%J -
%D 2020
%R 10.13362/j.jpmed.202001017
%X 摘要 目的　报道1例甲状腺激素抵抗综合征（THR）合并桥本甲状腺炎（HT）的患者，探讨该合并症的诊断和治疗方法。 方法　收集患者的临床资料，提取患者外周血基因组DNA，检测患者甲状腺激素受体β基因（TRβ）突变情况，并对相关文献资料进行复习。 结果　患者甲状腺Ⅱ度肿大，甲状腺功能五项指标均升高，垂体磁共振（MR）检查不除外垂体微腺瘤，基因检测显示TRβ基因第10外显子第1304位碱基发生杂合错义突变(c.1304 A＞T)。诊断为THR合并HT，垂体促甲状腺激素（TSH）微腺瘤不除外。给予患者甲磺酸溴隐亭片2.5 mg，每日1次，治疗2周后患者TSH降至正常范围。随访1年半时患者血清抗甲状腺球蛋白抗体（TgAb）和抗甲状腺过氧化物酶抗体（ATPO）转为阴性，随访3年时双抗体出现轻度升高，TSH维持在正常范围。现患者定期随访，一般情况可。 结论　TRβ基因H435L突变可能导致了THR。临床医生需要提高对THR合并HT的认识。<br>Abstract： Objective　To report a case of thyroid hormone resistance syndrome (THR) with HASHIMOTO’s thyroiditis (HT), and to investigate the diagnosis and treatment of this comorbidity. Methods　The patient’s clinical data were collected and the genomic DNA of peripheral blood was extracted to detect the mutation of the thyroid hormone receptor β (TRβ) gene. Related literature was reviewed. Results　The patient had grade Ⅱ goiter and increases in the five thyroid function parameters. Pituitary MR did not exclude the possibility of pituitary microadenoma, and gene detection revealed a heterozygous missense mutation at the 1304 base of exon 10 of the TRβ gene (c.1304 A>T). The patient was diagnosed with THR with HT, and pituitary microadenoma could not be excluded. The patient was given bromocriptine mesylate tablets 2.5 mg once a day, and after 2 weeks of treatment, the level of thyroid stimulating hormone (TSH) was reduced to the normal range. At one and a half years of follow-up, serum anti-thyroglobulin antibody and anti-thyroid peroxidase antibody turned negative, and at three years of follow-up, there was a slight increase in these antibodies and TSH was maintained within the normal range. At present, the patient was followed up regularly and had fairly good conditions. Conclusion　The H435L mutation of the TRβ gene may cause THR, and clinicians need to improve their understanding of THR with HT
%K 甲状腺激素抵抗综合征
%K 桥本病
%K 甲状腺激素受体β
%K 促甲状腺素
%K 基因检测
%K 突变
%K 诊断
%K 治疗学<br>Thyroid hormone resistance syndrome
%K Hashimoto disease
%K Thyroid hormone receptors beta
%K Thyrotropin
%K Genetic testing
%K Mutation
%K Diagnosis
%K Therapeutics
%U http://jpmed.qdu.edu.cn/CN/10.13362/j.jpmed.202001017