Update on resistance to thyroid hormone syndromeβ

被引：18
作者：
Sun, Hongping [1 ,2 ]
Cao, Lin [1 ,2 ]
Zheng, Rendong [1 ,2 ]
Xie, Shaofeng [1 ,2 ]
Liu, Chao [1 ,2 ]
机构：
[1] Nanjing Univ Chinese Med, Affiliated Hosp Integrated Tradit Chinese & Weste, Endocrine & Diabet Ctr, 100 Shizi St,Hongshan Rd, Nanjing 210028, Peoples R China
[2] Jiangsu Prov Acad Tradit Chinese Med, 100 Shizi St,Hongshan Rd, Nanjing 210028, Peoples R China
来源：
ITALIAN JOURNAL OF PEDIATRICS | 2020年 / 46卷 / 01期
关键词：
Thyroid hormone resistance; Thyroid hormone receptor β Thyroid hormone; Gene mutation; Autosomal genetic disease; RECEPTOR GENE; MUTATION; PATIENT; DIAGNOSIS;
D O I：
10.1186/s13052-020-00929-x
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
Resistance to thyroid hormone syndrome (RTH) is an autosomal dominant or recessive genetic disease caused by mutation of either the thyroid hormone receptor beta (THR-beta) gene or the thyroid hormone receptor alpha (THR-alpha) gene. RTH due to mutations of the THR-beta gene (hereafter, RTH-beta) is characterized by a decreased response of the target tissue to thyroid hormone, increased serum levels of free triiodothyronine (FT3) and/or free thyroxine (FT4), and inappropriate secretion of thyroid-stimulating hormone (TSH, normal or elevated). Clinical manifestations of RTH-beta vary from hyperthyroidism to hypothyroidism or simple goiter, and RTH-beta is often misdiagnosed clinically. The present review was prepared for the purpose of expanding knowledge of RTH-beta in order to reduce the rate of misdiagnosis.
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页数：5
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