Endocrine Abstracts

Hypoglycaemia is one of the most common biochemical abnormalities observed in the neonatal, infancy and childhood periods. Despite the commonality there is still confusion about the definition and management of hypoglycaemia. Hypoglycaemia can be due to many causes (including endocrine and metabolic) in the neonatal, infancy and childhood period. For example hyperinsulinaemic hypoglycaemia is the most severe form of hypoglycaemia in the neonatal period whereas ‘ketotic&#1...

Hyperinsulinaemic hypoglycaemia (HH) is a cause of severe and persistent hypoglycaemia in the newborn period. It is an extremely heterogeneous disorder with respect to clinical presentation, pancreatic histology and molecular biology. The clinical severity of HH varies mainly with age at onset of hypoglycemia (severe hypoglycemia in neonates) and has major consequences in terms of therapeutic outcome and genetic counseling. The commonest genetic cause of persistent HH are auto...

Hyperinsulinism causes recurrent and severe hypoglycaemia in the newborn, infancy and childhood period. Although the condition is more common in the newborn period it can present even adults can present with late onset hyperinsulinaemic hypoglycaemia not due to an insulinoma (noninsulinoma pancreatogenous hypoglycemia). Hyperinsulinaemic hypoglycaemia encompasses a heterogeneous group of disorders with respect to clinical presentation, pancreatic histology and molecular biolog...

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...

Background: Congenital hyperinsulinism (CHI) is a heterogeneous genetically determined condition that is characterised by unregulated secretion of insulin from pancreatic β-cells. The most common and severe cases are caused by mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel subunit. Autosomal recessive mutations in HADH gene are a rare cause of CHI. The advances in CRISPR/Cas9 gene editing technology has enabled the i...

Introduction: In congenital hyperinsulinism (CHI) hypoglycaemia results from a dysregulation of insulin secretion. We hypothesised that other pancreatic hormones may also be dysregulated in this condition.Objectives: To proof the applicability of Luminex Multiplex method to measure pancreatic hormones (insulin, C-peptide, glucagon, amylin and PP) in the paediatric age. To elucidate the fasting response of these hormones in children with different forms o...

Introduction: Isolated postprandial hyperinsulinaemic hypoglycaemia (PPHH) in the paediatric age has been exceptionally reported in the literature.Objective: To describe the clinical and biochemical characteristics as well as the management of a cohort of children with isolated PPHH followed at a single tertiary paediatric centre.Subjects and methods: Six children (three males) were collected. The clinical characteristics, diagnosi...