Endocrine Abstracts

Introduction: Since 2012, different heterozygous mutations in the THRA gene have been described in patients with resistance to thyroid hormone alpha (RTHα). The associating symptoms are reminiscent of untreated congenital hypothyroidism (growth retardation, psycho-neuromotor disorders, delayed bone development and bradycardia) but with raised T3/T4 ratio and normal TSH levels. All genetic abnormalities act in a dominant negative (DN) manner against functional rec...