Journal article

Publication year: 2004

Pages: 95-97

Journal: Experimental and Clinical Endocrinology & Diabetes

Volume number: 112

Issue number: 2

ISSN: 0947-7349

DOI Link: https://doi.org/10.1055/s-2004-815763

Publisher: Thieme Publishing

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.

Harvard Citation style: Bayer, Y., Fasshauer, M. and Paschke, R. (2004) The novel missense mutation methionine 442 threonine in the thyroid hormone receptor beta causes thyroid hormone resistance: A case report, Experimental and Clinical Endocrinology & Diabetes, 112(2), pp. 95-97. https://doi.org/10.1055/s-2004-815763

APA Citation style: Bayer, Y., Fasshauer, M., & Paschke, R. (2004). The novel missense mutation methionine 442 threonine in the thyroid hormone receptor beta causes thyroid hormone resistance: A case report. Experimental and Clinical Endocrinology & Diabetes. 112(2), 95-97. https://doi.org/10.1055/s-2004-815763