Endocrine Abstracts

Background: Monogenic obesity is generally considered to only be responsible for a small proportion of genetic obesity with the vast majority attributable to polygenic obesity. Previous studies estimate that monogenic obesity accounts for less than 5% of obesity in Caucasian populations.Aims and method: To identify prevalence and clinical characteristics of monogenic obesity, we reviewed clinical notes of 219 patients currently, or recently (within 24 mo...

Introduction: Children with Down’s Syndrome (DS) have altered immunity with higher rates of diabetes, thyroid autoimmunity, coeliac disease, respiratory tract infections and leukemia. Diabetes in children with DS appears to be accelerated with an earlier age of onset compared with the general population, with 22% diagnosed before the age of 2 years. Increased HLA class II DR3/4 susceptibility is seen in in children with DS and diabetes but the prevalence is reduced compar...

Background: The National Institute for Health and Care Excellence (NICE) guidelines on childhood type 1 diabetes (T1D) do not recommend cholesterol screening. However, the National Paediatric Diabetes Audit (NPDA) has an annual cholesterol measure (>12 years) as a key outcome indicator. This is confusing for professionals managing children with T1D.Methods: An online survey was sent to 280 members of the Association of Children’s Diabetes Clinic...

Background and Objectives: Abuse in childhood is associated with obesity in adult life. However, little is known about the relationship between abuse and obesity during childhood or adolescence. The aim of this study was to investigate, using a birth cohort study, whether there was an association between pre-adolescent child abuse and overweight and obesity in later childhood. We hypothesised that abuse and obesity may be associated.Methods: Using data f...

Background: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation (ROHHAD) is a rare syndrome associated with high morbidity. An immune-inflammatory aetiology has been postulated; however, the immune characteristics and effect of immunomodulation have not been well described.Case report: We describe the immune profile and the effect of rituximab on the immunomodulation potentially ca...

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: We describe a patient with 46XX ovotesticular difference of sex development (DSD) due to 46XX/69XXY gonadal mixoploidy, also an NR5A1 variant, who developed severe early-onset obesity and subsequently a pathogenic MC4R variant was identified.Case Presentation: A term Caucasian baby weighing 3.64kg with non-consanguineous parents presented with atypical genitalia (Prader Stage 2-3) with clitoromegaly, perineal urethral openin...

Background: Liraglutide is a glucagon-like peptide analogue recently approved for use in children and young people for treating obesity. It is recommended for use within multidisciplinary weight management services, alongside dietetic and lifestyle interventions, in children over 12 years with severe obesity.Aim: To describe our experiences of using liraglutide in a tier 3 paediatric obesity service in a patient cohort who had previously failed to succes...

Background: Intra-uterine growth restriction (IUGR) is a known risk factor for the development of hyperinsulinaemic hypoglycaemia (HH). The phenotype of a large cohort of neonates who develop HH following IUGR has not been studied previously.Aim: To characterise the clinical aspects of a cohort of neonates with IUGR who developed HH.Methodology: Thirty-nine patients with IUGR (defined as birth weight <10th centile) who presente...