ESPE Abstracts

Background: Congenital Hyperinsulinism (CHI) is the commonest cause of persistent neonatal hypoglycaemia and is characterised by inappropriately detectable plasma insulin during hypoglycaemia. Management depends on the timely analysis of biochemical parameters, which would help initiate appropriate management and avoid potential neurological compromise. The technical difficulties in sending the appropriate sample and the delay in processing the sample in the lab sometimes cont...

Background: Case reports have documented variable glycaemic response to the mTOR inhibitor Sirolimus in severe diazoxide+/−octreotide unresponsive forms of congenital hyperinsulinaemic hypoglycaemia (CHI). A high incidence of adverse effects has been reported in patients receiving this medication.Objective(s): To describe the efficacy and safety of Sirolimus use over a 5-year period in the largest cohort of CHI patients treated to date.<p class...

Introduction: Congenital hyperinsulinism (CHI) is the most common cause of hypoglycaemia in infancy caused by dysregulated insulin secretion. The management of severe hypoglycaemia often requires the administration of high dextrose-containing fluids through a central venous catheter (CVC). However, CVCs carry the risk of complications including thrombosis. We sought to determine the incidence of CVC-associated thrombosis in patients with CHI and examine associated risk factors...

Background: Hypoglycemia triggers the secretion of counter-regulatory hormones such as cortisol, GH, and glucagon, all of which are protective mechanisms to restore euglycemia. It has been suggested that CHI patients have abnormal glucagon secretion during hypoglycemia, but the data is limited.Objective and hypotheses: To investigate the secretion of counter-regulatory hormones including glucagon during hypoglycemia. It’s supposed that these hormone...

Backgound: There is insufficient knowledge about the characterisation of insulin, glucagon, amylin, pancreatic polypeptide (PP) and Pancreas/Duodenum Homeobox Protein 1 (PDX-1) in pancreatic tissue of children with diffuse (DCHI) and focal (FCHI) congenital hyperinsulinism (CHI).Objective(s): To understand the expression profile and localisation of insulin, glucagon, amylin, PP and PDX-1 in pancreatic tissue of children with DCHI and FCHI.<p class="a...

Context: Congenital hyperinsulinism (CHI) has two main histological types – diffuse and focal. Diffuse CHI is due to recessive or dominant mutations in ABCC8/KCNJ11. Focal disease is due to somatic maternal allele loss of 11p15 in pancreatic β-cells along with paternally inherited germline ABCC8/KCNJ11 mutation. Fluorine-18 L-3, 4-dihydroxyphenylalanine positron emission tomography computerized tomography (18F DOPA–PET...

Background: Congenital hyperinsulinism (CHI) has not been studied in the Ukraine.Objective and hypotheses: We investigated the genetic aetiology and treatment of patients with CHI.Method: Routine clinical and laboratory investigations were performed in children with hypoglycaemia. Genetic testing was undertaken for seven patients with CHI from 9 families. KCNJ11, ABCC8, HNF4A genes were sequenced in all patients. For those...

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...

Introduction: Congenital Hyperinsulism (CHI) is a common cause of recurrent and persistent hypoglycemia in the neonatal period. Diazoxide is the first line medication used for the management of CHI. We report the clinical profile and the management outcome of a large cohort of patients with diazoxide responsive CHI.Methodology: A retrospective data collection including antenatal, perinatal and postnatal clinical parameters, laboratory di...

Objectives: Monogenic diabetes and congenital hyperinsulinism (CHI) and are common disorders of glucose-regulated insulin secretion in childhood, with 13 causative genes known for MODY and 10 causative genes identified for CHI. Genetic testing for monogenic diabetes and CHI is important for patient care. We aimed to delineate genetic and clinical manifestations of monogenic diabetes and CHI diagnosed by targeted-exome sequencing (TES).Methods: Nine proba...