ESPE Abstracts

Introduction: Heterozygous inactivating mutations in the maternal allele of the GNAS gene typically result in pseudohypoparathyroidism (PHP), characterised by developmental delay, short stature, obesity, hormone resistance and bone abnormalities. GNAS variants were recently described in 1% of patients in the UK Genetics of Obesity cohort, resulting in reduced MC4R signalling. Here, we report another novel GNAS variant in a family wit...

Introduction: Childhood obesity is associated with various physical and mental health co-morbidities. Lifestyle interventions remain the mainstay of management in children & young people (CYP) with obesity. Semaglutide, a Glucagon-like peptide 1(GLP1) analogue, is licensed for managing obesity in CYP older than 12 years of age.Aim: The aimof this study is to look at the effects of semaglutide on glycaemic status, bod...

Introduction: Resistance to thyroid hormone beta, a rare disorder due to mutation in thyroid hormone receptor β, results in raised thyroid hormones with non-suppressed TSH and variable symptoms. Manifestations of RTHb in childhood include failure to thrive, propensity to ENT infections and behavioural abnormalities including ADHD. We report biochemical and behavioural responses to therapy with triiodothyroacetic acid (TRIAC), a centrally-acting thyroid ho...

Introduction: Hypothalamus is a key regulator of hunger and energy expenditure. Children with CNS tumours are at risk of hypothalamic and pituitary dysfunction which could be related to the direct effects of the tumour or treatment.Aim: To assess the prevalence and severity of obesity in children diagnosed and treated for CNS tumours at a tertiary paediatric centre.Methods: We retr...