ESPE Abstracts

The action of Thyroid hormone (T3) is mediated by the binding to nuclear receptors (TRa1, TRα1/2), which are ligand dependent transcription factors, encoded by the THRA and THRB genes. THRA germline mutations cause a rare genetic disease called resistance to thyroid hormone α (RTHα) first reported in 2012 . Only 20 missense and frameshift mutations have been reported to date, From this small group of patients, and analysis of animal models, it emerges that the d...