ESPE Abstracts

Background: Costello syndrome may be associated with Hyperinsulinaemic Hypoglycaemia (HI), but this is usually a mild medically-responsive form.Objective and hypotheses: To describe the clinical characteristics, biochemical findings and challenging management of a case of Costello syndrome with severe HI.Method: Review of the patient’s medical records.Results: Male, born to non-consanguineous healthy par...

Background: Congenital hyperinsulinism (CHI) causes severe hypoglycaemia in children, due to dysregulated insulin secretion from pancreatic β-cells. Glucagon, secreted from the pancreatic α-cells, is critical for blood glucose homeostasis. Somatostatin is secreted by Δ-cells of the islets and by extraislet neuroendocrine cells. Exogenous somatostatin potently inhibits insulin and glucagon release from pancreatic islets. Under normal physiological conditions, low...

Background: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycaemia in the neonatal period, characterized by unregulated insulin secretion by pancreatic β-cells. In addition to medical therapy, frequent feeding to prevent hypoglycaemia is one of the most important aspects in the management of CHI.Objective and hypotheses: To identify the number of patients with CHI who have associated feeding difficulties and determine ...

Background: Hypoglycaemic episodes in patients with Congenital Hyperinsulinism (CHI) are not always detected due to the intermittent measurement of blood glucose concentrations, particularly the asymptomatic episodes. Detecting and treating these episodes is important for prevention of hypoglycaemic brain injury. Although the Continuous Glucose Monitoring System (CGMS) is widely used in adults and children with diabetes, the use in patients with CHI remains li...

Background: Lanreotide, a prolonged-release somatostatin analogue, has been utilized off-label for nearly a decade to treat cases of congenital hyperinsulinism (CHI) that do not respond to diazoxide. Acute side-effects of Lanreotide include diarrhoea and topical allergic reactions. Long-term effects include hepatitis, gallstones, growth suppression, hypothyroidism and gastrointestinal dysmotility. However, limited number of case series have documented the long...

Introduction and Aim: Congenital hyperinsulinism (CHI) is the most common cause of hypoglycaemia in early infancy and represents a heterogeneous disorder with respect to clinical presentation, histology and genetics. The aim of our study is to review correlation between genotype and phenotypic characteristics of children with CHI.Methods: Retrospective review of CHI patients with positive genetics during the last 8 years...

Objectives: Differentiated thyroid cancer (DTC) has shown increasing incidence in children and young people <19 years (CYP), and CYP present with more extensive disease than in adults and are at risk of long-term morbidity. A paucity of randomised controlled trials in the field has led to a lack of consensus on how these children should best be managed. These Children’s Cancer and Leukaemia Group and British Society for Paediatric Endocrinology and Diabetes commission...

Background: Hyperinsulinaemic hypoglycaemia (HH) is the most frequent cause of severe and persistent hypoglycaemia in infancy. Prompt recognition and successful management are critical to ensure prevention of hypoglycaemic brain injury and neurological sequelae. The incidence of HH varies from 1:50,000-1:2,500, and mutations in at least 12 different genes involved in β-cell insulin release have been described. Recently, the spectrum of genetic causes for HH has been exten...

Background: Glucokinase (GCK) acts as the glucose sensor of β-islet cells, regulating insulin secretion in response to changing glucose concentrations. Homozygous GCK mutations are a rare cause of permanent neonatal diabetes. Heterozygous mutations lead to GCK MODY, causing mild hyperglycaemia, not usually requiring treatment.Case: The index case was born to consanguineous parents at 36+2 weeks gestation, weighing 1610 g (0.4th centile). Hy...

Background: Congenital hyperinsulinism (CHI) is a cause of severe persistent hypoglycaemia in children. Diazoxide is the first line medical therapy for CHI; however diazoxide is usually ineffective in CHI with KATP channel gene mutations. Patients with no mutations in the KATP channel genes do respond to therapy with diazoxide. There are no previous studies assessing how long diazoxide therapy is needed in those patients with no genetic aetiology identifi...