甲状腺激素抵抗综合征的临诊应对  

Approach to the patients with resistance to thyroid hormone

作　　者：姜晓华[1] 方微园[1] 叶蕾[1] 蔡洁[1] 王曙[1] 赵咏桔[1] 王卫庆[1] 宁光[1] 

机构地区：[1]上海交通大学医学院附属瑞金医院内分泌代谢病科,上海市内分泌代谢病临床医学中心,上海市内分泌代谢病研究所,200025

出　　处：《中华内分泌代谢杂志》2013年第2期165-169,共5页Chinese Journal of Endocrinology and Metabolism

基　　金：国家自然科学基金（81000314）

摘　　要：甲状腺激素抵抗综合征是甲状腺激素靶组织对甲状腺激素敏感性降低的一组综合征，以血清中FT3、FT4升高和不能被抑制的TSH为显著特征，其90％以上具有家族遗传性，呈常染色体显性遗传，大多数源于编码甲状腺激素受体p（TRβ）基因的突变。甲状腺激素抵抗综合征的临床表现具有高度的异质性，在不同的家系、同一家系不同的患者、同一患者不同时期都可以有不同的临床表现，易与其他常见的甲状腺疾病相混淆，因此在临床诊治中常因认识不足容易导致误诊和误治。本文详细分析1例甲状腺激素抵抗综合征的诊断和治疗以及患者和家系成员TRβ基因突变的筛查结果，以引起临床医生重视甲状腺激素抵抗综合征的诊治。Syndrome of resistance to thyroid hormone （RTH） is a rare disorder with reduced tissue response to thyroid hormones, and it is characterized by elevated circulating free thyroid hormones （ FT3 and FT4 ） and non-suppressed serum TSH. More than 90% of RTH are hereditary, displaying autosomal dominant inheritance, most of which are linked to mutations of thyroid hormone receptor β gene （ TRβ ）. RTH has a high degree of clinical heterogeneity, and the clinical manifestations are varied among patients with different course, among different families with RTH and even among different affected family members in one family. Because RTH can be easily confused with the other common thyroid diseases, misdiagnosis and mistherapy are often encountered in RTH patients due to lack of understanding of RTH. Here we present a case of RTH with genetic diagnosis and treatment together with the TRβ gene screening results in her mother in order to call attention to the diagnosis and treatment of RTH.

关 键 词：甲状腺激素抵抗综合征 TRH兴奋试验 奥曲肽抑制试验 TRβ基因 

分 类 号：R581[医药卫生—内分泌]