Endocrine Abstracts

Introduction: Resistance to thyroid hormone (RTH) is a rare inherited syndrome characterised by refractoriness of target tissue to thyroid hormone. Over 80% of cases are due to mutations in the thyroid hormone receptor beta (THR β) gene with over 100 mutations identified to date. The clinical manifestations vary from common feature as goitre to less common sinus tachycardia, learning disabilities, growth and developmental delay. Aim: We rep...

Introduction: ROHHADNET is a rare syndrome characterized by rapid onset obesity, hypoventilation, hypothalamic dysfunction, autonomic dysregulation and neuroendocrine tumours. Although obesity is the first recognisable feature, there is variable onset of other features, resulting in delayed or missed diagnosis, potentially leading to fatal consequences. We describe two cases with features of ROHHADNET, who had high heterogeneity in clinical spectrum. Cas...

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...