甲状腺激素抵抗综合征β的研究进展。
Update on resistance to thyroid hormone syndromeβ.
机构信息
Endocrine and Diabetes Center, Affiliated Hospital of Integrated Traditional Chinese and Western Medicine, Nanjing University of Chinese Medicine, No.100, Shizi Street, Hongshan Road, Nanjing, 210028, China.
Jiangsu Province Academy of Traditional Chinese Medicine, No.100, Shizi Street, Hongshan Road, Nanjing, 210028, China.
出版信息
Ital J Pediatr. 2020 Nov 11;46(1):168. doi: 10.1186/s13052-020-00929-x.
Abstract
Resistance to thyroid hormone syndrome (RTH) is an autosomal dominant or recessive genetic disease caused by mutation of either the thyroid hormone receptorβ (THR-β) gene or the thyroid hormone receptorα (THR-α) gene. RTH due to mutations of the THR-β gene (hereafter, RTH-β) 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-β vary from hyperthyroidism to hypothyroidism or simple goiter, and RTH-β is often misdiagnosed clinically. The present review was prepared for the purpose of expanding knowledge of RTH-β in order to reduce the rate of misdiagnosis.
摘要
甲状腺激素抵抗综合征（RTH）是一种常染色体显性或隐性遗传病，由甲状腺激素受体β（THR-β）基因或甲状腺激素受体α（THR-α）基因突变引起。由于 THR-β 基因突变引起的 RTH（以下简称 RTH-β）的特征是靶组织对甲状腺激素的反应降低，血清游离三碘甲状腺原氨酸（FT3）和/或游离甲状腺素（FT4）水平升高，以及促甲状腺激素（TSH，正常或升高）的不适当分泌。RTH-β 的临床表现从甲亢到甲减或单纯性甲状腺肿不等，临床上常被误诊。本综述旨在扩展对 RTH-β 的认识，以降低误诊率。
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