Searchable abstracts of presentations at key conferences in endocrinology

ea0092ps3-25-08 | Case Reports 2 | ETA2023

Resistance to thyroid hormone in the absence of thyroid hormone receptor mutation: A case report

Jesenko Miha , Kocjan Tomaž , Krhin Blaž , Gaberscek Simona

Introduction: Resistance to thyroid hormone beta is a genetic disease defined by impaired sensitivity of target tissue to thyroid hormone caused by mutation of thyroid hormone receptor beta gene, appearing with an incidence of 1/40,000. The characteristic biochemical profile of resistance to thyroid hormone is elevated serum thyroid hormone level and inappropriate serum level of thyrotropin (TSH) which is normal or elevated. Clinical picture is variable ranging from asymptomat...