Update on resistance to thyroid hormone syndromeβ

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.