ESPE Abstracts

Background: Hyperinsulinemic hypoglycemia (HH) is a consequence of unregulated insulin secretion by pancreatic β-cells. Congenital HH is caused by mutations in genes involved in regulation of insulin secretion (ABCC8, KCNJ11, GLUD1, CGK, HADH, SLC16A1, HNF4A and UCP2). Severe forms of congenital HH are caused by inactivating mutations in ABCC8 and KCNJ11, which encode the two components of th...

Background: Neonatal diabetes mellitus (NDM), either transient (TNDM) or permanent (PNDM), is a rare form of monogenic diabetes, and usually presents in the first 6 months of life.Objective and Hypotheses: To describe the clinical characteristics and molecular genetics of a large Turkish cohort of NDM from a single centre.Method: NDM patients presenting to Diyarbakır Children State Hospital between 2010 and 2013 were prospecti...

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...

Objective: Congenital hyperinsulinism (CHI) is the most common cause of hypoglycaemia in children. Early identification and management is crucial to prevent irreversible brain damage. CHI has a heterogeneous clinical presentation, histology and molecular biology. We aim to discuss the clinical characteristics and genotype–phenotype correlations of Turkish CHI patients from a single centre.Design and methods: A total of 15 patients with CHI were recr...

Background: Congenital hyperinsulinism (CHI) is a common cause of hypoglycaemia in neonates, infants and children. CHI is a heterogeneous disease in terms of clinical presentation, genetics and histology.Objective and hypotheses: The aim of this study was to describe the clinical characteristics, genotype–phenotype correlations and treatment outcome of Russian patients with CHI.Method: A total of 90 children with CHI were iden...

Background: Congenital hyperinsulinism (CHI), is the most common cause of severe hypoglycaemia in neonates and infants. The cornerstone of medical therapy is diazoxide. Octreotide, a somatostatin analogue, is the second therapeutic option in diazoxide unresponsive cases. However, due to its short half-life and requirement of multiple daily doses, lack of compliance may cause recurring hypoglycaemia and related neurological deficits, particularly for the family with low socioec...

Background: Pancreas transcription factor-1 alpha (PTF1A), encoded by the PTF1A gene, is a beta helix loop(bHLH) protein which involved in the development of the pancreas and cerebellar neurogenesis. Although mutations of PTF1A cause permanent neonatal diabetes(PNDM), pancreas agenesis and cerebellar agenesis, PTF1A enhancer mutations reported causing PNDM and isolated pancreas agenesis. In the present study, we evaluate the phenotyp...

Background: Neonatal diabetes mellitus (NDM) is a relatively rare form of monogenic diabetes and usually presents in the first 6–9 months of life. In this study, our objective was to report the clinical details, perform a detailed genetic analysis and acquire a clinical–phenotype correlation of our cohort.Materials and methods: NDM patients referred to SN Endocrine centre between period of Nov 2014 to April 2017 and patients under follow-up wit...

Background: Neonatal Diabetes Mellitus (NDM) is a rare form of monogenic diabetes that typically presents during the first 6 months of life. Its prevalence is about 1:100 000 live births; however it may rise up to 1:29 000 in highly consanguineous populations. Mutations in 22 different genes are reported; with the most common cause being potassium channel subunit gene (KCNJ11/ABCC8) mutations. However, causative mutations among consanguineous populations seem to diffe...

Background: Congenital hyperinsulinism (CHI) is the most common cause of hyperinsulinaemic hypoglycaemia in the neonatal, infancy, and childhood periods. Its clinical presentation, histology and underlying molecular biology are extremely heterogeneous.Objective and hypotheses: To describe the clinical characteristics, analyse the genotype–phenotype correlations and describe the treatment outcome of Turkish CHI patients.Method:...