Endocrine Abstracts

Introduction: Generalised lipodystrophy is clinically characterised by lipoatrophy, hepatomegaly, hypertriglyceridemia, insulin resistance and acromegaloid features. It is recognised that diencephalic syndrome is a rare presentation of hypothalamic tumours in infants and young children. Children with this disorder have profound emaciation and generalised loss of subcutaneous fat, growth acceleration, hyperkinesia and euphoria. Hypothalamic tumours, particularly pilocytic astro...

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...