Searchable abstracts of presentations at key conferences in endocrinology

ea0092ps2-20-05 | Thyroid hormone receptors basic | ETA2023

Human resistance to thyroid hormone beta operates via a mechanism requiring receptor binding to DNA

Agostini Maura , Schoenmakers Erik , acar sezer , Syanda Adam , Romartinez-Alonso Beatriz , Cacciottolo Tessa , Rashid Tamir , Schwabe John , Chatterjee Krishna

Objectives: All known (>230) different mutations in thyroid hormone receptor β (TRβ) causing Resistance to Thyroid Hormone β (RTHβ), localise to three clusters within its hormone binding domain. Here, we report phenotypes and molecular studies in an unique family with RTHβ due to a mutation in the DNA binding domain (DBD) of TRβ.Methods: We ascertained clinical and biochemical features in four children and their parents ...