The Novel Missense Mutation Methionine 442 Threonine in the Thyroid Hormone Receptor β causes Thyroid Hormone Resistance: A Case Report

Abstract

We report a family with thyroid hormone resistance caused by a novel mutation M442T in the thyroid hormone receptor beta (TRbeta) gene. The 59-year-old propositus and one of his two daughters had typical clinical signs of reduced responsiveness of tissues to thyroid hormones. Thus, elevated free T (3) and T (4) plasma concentrations in coexistance with a diffuse nodular goiter, nonsuppressed TSH, and atrial fibrillation with tachycardia were present in the propositus. His affected daughter also had increased levels of free T (3) and T (4) with slightly elevated TSH concentrations. Both affected members harboured a heterozygous M442T TRbeta mutation. The unaffected child had no mutation in the TRbeta gene and no clinical manifestations.