The novel missense mutation methionine 442 threonine in the thyroid hormone receptor beta causes thyroid hormone resistance: a case report.
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.
Bayer
Y
Y
Third Medical Department, University of Leipzig, Germany.
Fasshauer
M
M
Paschke
R
R
D001281:Atrial Fibrillation / Q000235:genetics; D006044:Goiter, Nodular / Q000235:genetics; D006801:Humans; D008297:Male; D008715:Methionine; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D013610:Tachycardia / Q000235:genetics; D013912:Threonine; D037042:Thyroid Hormone Receptors beta / Q000235:genetics*; D018382:Thyroid Hormone Resistance Syndrome / Q000235:genetics*; D013972:Thyrotropin / Q000097:blood; D013974:Thyroxine / Q000097:blood; D014284:Triiodothyronine / Q000097:blood
D037042:Thyroid Hormone Receptors beta; D014284:Triiodothyronine; D013912:Threonine; D013972:Thyrotropin; D008715:Methionine; D013974:Thyroxine