Endocrine Abstracts

Background: Childhood obesity and type 2 diabetes mellitus (T2DM) have increased proportionately in the last decade. Oral glucose tolerance test (OGTT) is recommended for paediatric patients with a BMI >98th centile (NICE, 2014) to identify T2DM or abnormal glucose homeostasis (AGH).Aim: To estimate the proportion of patients with AGH/T2DM seen in a tier 3 obesity service and evaluate the utility of the glycated haemoglobin (HbA1C) in detecting AGH. ...

Introduction: The management of childhood obesity is complex and requires intensive input from a multidisciplinary team. Pharmaceutical interventions may be required in addition to lifestyle modifications to treat morbid obesity. In a double blind randomised controlled trial, liraglutide, a glucagon-like peptide 1 (GLP-1) agonist along with dietary and lifestyle interventions showed beneficial BMI reduction in children and adolescents. We present a morbidly obese adolescent wi...

Background: Congenital hyperinsulinism (CHI) is a clinically heterogeneous condition. Mutations in seven genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1 and HNF4A) are known to cause CHI.Aim: To characterise the clinical and molecular aspects of a large cohort of patients with CHI.Methodology: 300 patients with biochemically confirmed CHI were recruited. Detailed clinical information was collected prior to geno...

Introduction: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation, and neuro-endocrine tumour (ROHHAD-NET) is a rare syndrome associated with high morbidity and mortality. With no clear aetiology, diagnosis is based on constellation of clinical features. Management is supportive, although various immunosuppressive agents have been used with variable benefits. We present 3 cases of ROHHAD with heterogeneous presentations and clinical feat...

Background: The pancreatic β-cell KATP channel plays a key role in glucose stimulated insulin secretion and is encoded by the genes ABCC8 and KCNJ11. Recessive mutations in ABCC8/KCNJ11 cause severe medically unresponsive HH. Recently, dominant mutations in these genes have been described that cause mild, medically responsive HH. Controversy exists on whether these dominant ABCC8/KCNJ11 mutations predispose to diabetes mellitus in ad...