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 β (TRβ) 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 T₃ and T₄ 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 T₃ and T₄ with slightly elevated TSH concentrations. Both affected members harboured a heterozygous M442T TRβ mutation. The unaffected child had no mutation in the TRβ gene and no clinical manifestations.

Key words

Thyroid hormone receptor - missense mutation

References

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