Endocrine Abstracts

Aims: To examine, in children with Osteogenesis Imperfecta (OI): the prevalence of overweight and obesity, longitudinal trends in body mass index (BMI) z-scores and total body fat percentage (TBF) assessed on dual-energy X-ray absorptiometry (DXA) scans, correlation between BMI and TBF and fractures and BMI z-score.Methods: Retrospective cross-sectional and longitudinal analysis of children with OI, with minimum 5 years data on DXA scans, at a single nat...

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: X-linked hypophosphatemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralisation of bone resulting in rickets, skeletal abnormalities, physical impairment, weakness, and pain. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. We report relevant real-world biochemical data following the first 6 months of buros...

Objectives: X-linked hypophosphatemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralization of bone and rickets. Burosumab is an anti-FGF23 fully human monoclonal-antibody, and the first treatment to target the underlying pathophysiology of XLH. We report relevant real-world biochemical data on children under five years old for the first 6 months of treatment.Methods: An early a...