Endocrine Abstracts

Background: Resistance to thyroid hormone (RTH) is an inherited condition of reduced tissue responsiveness to thyroid hormone (TH), biochemically characterized by elevated serum TH concentrations, with inappropriate, non-suppressed thyrotropin levels (TSH). It is caused by point mutations in the ligand binding domain of the TH receptor (TR) β gene, and the mutant TR interferes with the function of the normal TRs (dominant negative effect). The clinical manifestations of R...