Searchable abstracts of presentations at key conferences in endocrinology

ea0044p241 | Thyroid | SFEBES2016

Contrasting phenotypes in Resistance to Thyroid Hormone α correlate with divergent properties of thyroid hormone receptor α1 mutant proteins

Moran Carla , Agostini Maura , McGowan Anne , Schoenmakers Erik , Fairall Louise , Lyons Greta , Rajanayagam Odelia , Watson Laura , Offish Amaka , Barton John , Price Susan , Schwabe John , Chatterjee Krishna

Resistance to Thyroid Hormone alpha (RTHα) is characterised by tissue-selective hypothyroidism with near-normal thyroid function tests, and is due to thyroid receptor α gene mutations. We sought to correlate the clinical characteristics and response to thyroxine treatment of two RTHα patients with the properties of their defective TRα proteins.Clinical, biochemical and physiological parameters were assessed in each patient at baseline...