Endocrine Abstracts

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...

Objectives: In 2011, we described the first case of Resistance to Thyroid Hormone due to a mutation in thyroid hormone receptor a (RTHα) in a six year old child with features of congenital hypothyroidism but near-normal thyroid function tests. Here, we report outcomes following twelve years of thyroxine therapy in this patient.Methods: Colonic contractility, intestinal transit time, growth, resting energy expenditure, heart rate and biochemical para...

Objectives: THRA mutations cause Resistance to Thyroid Hormone α (RTHα), an underdiagnosed disorder with hypothyroid features but near-normal thyroid function tests (TFTs). We developed a pathway, combining molecular analyses, new biomarkers and physiological measurements, to better diagnose and treat this disorder.Methods: Structural and functional analyses of THRA variants, discovered by next generation sequencing in specifi...