Update on resistance to thyroid hormone syndromeβ

Italian Journal of Pediatrics

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