Italian Journal of Pediatrics | |
Update on resistance to thyroid hormone syndromeβ | |
Chao Liu1  Shaofeng Xie1  Hongping Sun1  Lin Cao1  Rendong Zheng1  | |
[1] Endocrine and Diabetes Center, Affiliated Hospital of Integrated Traditional Chinese and Western Medicine, Nanjing University of Chinese Medicine, No.100, Shizi Street, Hongshan Road, 210028, Nanjing, China;Jiangsu Province Academy of Traditional Chinese Medicine, No.100, Shizi Street, Hongshan Road, 210028, Nanjing, China; | |
关键词: Thyroid hormone resistance; Thyroid hormone receptor β; Thyroid hormone; Gene mutation; Autosomal genetic disease; | |
DOI : 10.1186/s13052-020-00929-x | |
来源: Springer | |
【 摘 要 】
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.
【 授权许可】
CC BY
【 预 览 】
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RO202104283583037ZK.pdf | 520KB | download |