Endocrine Abstracts

Introduction: Hyperinsulinaemic hypoglycaemia (HH) is characterized by dysregulated insulin secretion and is typically associated with reduced fasting tolerance. We aimed to evaluate the clinical and biochemical characteristics of children presenting with postprandial hyperinsulinaemic hypoglycemia.Methods: Retrospective data collection on children who presented with symptomatic postprandial hypoglycaemia. Children with postprandial hypoglycaemia seconda...

Introduction: Congenital hyperinsulinism (CHI) is a clinically heterogeneous condition. Mutations in ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A, UCP2 and HNF1A are known to cause CHI. There are two histological subtypes of CHI: diffuse and focal. Apart from the functional channel defect, β-cell hyperplasia has been observed in diffuse CHI. We aimed to understand the gene expression pattern in pancreatic tissue of patients with diffuse CHI when compared to normal cont...

Background: Newborn infants have multiple risk factors for developing hypoglycaemia of which, hyperinsulinism is an important cause of both transient and persistent hyperinsulinaemic hypoglycaemia (HH). It can present in newborns infants at term, preterm and newborns with intrauterine growth retardation (IUGR). There have been no previous reports of HH occurring in twins and triplets.Aims and objectives: We report the occurrence of HH in 4 sets of twins ...

Introduction: The molecular research on rare diseases is limited by the availability of tissue samples that yield good quality RNA. Extraction of RNA from human pancreatic tissues are challenging due the high amount of ribonucleases.Aim: To compare the quality of RNA from fresh frozen (FF) and formalin fixed paraffin embedded (FFPE) human pancreatic samples of patients with congenital hyperinsulinism (CHI).Methods: Tissue samples w...

Introduction: Childhood obesity is associated with various complications and medical treatment options are limited. Liraglutide, a GLP-1 receptor agonist, has shown improvement in body mass index (BMI) in clinical trials and has been licensed for clinical use in adolescents >12 years of age. The aim of our study is to evaluate the effect of liraglutide treatment on cardiometabolic variables, quality-of-life (QoL) and satiety levels in adolescents with seve...

Background: Klinefelter Syndrome (KS) affects approximately 1 in 500 males and presents with different phenotypes. KS affects spermatogenesis and causes infertility but can also impact neurocognitive and psychological development or affect other systems like cardiovascular, dental, skeletal. European Academy of Andrology has published recommendations regarding holistic KS management, including the fertility aspects, from childhood until adulthood.<p class=...

Introduction: Childhood obesity is associated with complications, such as impaired glucose tolerance and type 2 diabetes mellitus. The gold standard investigation for diagnosing glycaemic alterations is an oral glucose tolerance test (OGTT). Continuous glucose monitors (CGM) are routinely used in the management of children and young people (CYP) with type 1 diabetes mellitus. The aim of our study is to investigate whether CGM is more effective in identifying g...

Introduction: Socio-economic factors have a huge impact on children and young people’s (CYP) overall health status. The rates of childhood overweight and obesity continue to rise and the CYP from areas with higher social deprivation are adversely affected with higher rates of obesity. We report the link between socio-economic deprivation and complications from excess weight (CEW) in the CYP being managed in a tier 3 multi-disciplinary (MDT) weight managem...

Introduction: The presence of heterophilic antibodies resulting in assay interference could lead to falsely high or low values in biochemical investigations. We present a case of a 5-year-old girl who had persistently high level of TSH despite Levothyroxine treatment.History: A five-year girl was found to have an elevated plasma TSH level (24.29 mU/L) with normal Free T4 (both measured using Abbott Alinity immunoassay) w...

Introduction: B3GAT3, encoding β-1,3-glucuronyltransferase 3, has an important role in proteoglycan biosynthesis. Homozygous B3GAT3 mutations have been associated with short stature, skeletal deformities and congenital heart defects. We describe for the first time, a novel heterozygous splice site mutation in B3GAT3 contributing to severe short stature, growth hormone (GH) deficiency, recurrent ketotic hypoglycaemia, facial dysmorphism and conge...