ESPE Abstracts

Background: Neonatal diabetes is a rare disorder with an incidence of between 1 in 215 000–500 000 live births with approximately 50% having permanent neonatal diabetes (PNDM). Insulin gene (INS) mutations have recently been described as a cause of PNDM.Objective and hypotheses: To describe clinical features and laboratory manifestations of patient with PNDM due to INS gene mutation and evaluate outcome of management....

Background: 6 patients with neonatal diabetes presenting to a single centre from April 2014 to March 2015 were studied for clinical presentation, biochemical findings of the disorder, genetics and treatment outcomes.Objective and hypotheses: Six children presenting to a single centre in South India were studied for correlation of disease with clinical features and genetics, suitability of current treatment regimens and treatment outcomes.<p class="ab...

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: Hyperinsulinaemic Hypoglycaemia (HH) is one of the commonest causes of hypoglycaemia in infancy. It is characterised by hypoketotic, hypofattyacidaemic and hyperinsulinaemic hypoglycaemia. The molecular basis of HH includes defects in pathways that regulate insulin release; to date, 12 genes have been associated with monogenic forms of HH (ABCC8, KCNJ11, GLUD1, GCK, HADH1, UCP2, MCT1, HNF4A, HNF1A, HK1, PGM1, PMM2). However, no genetic aetiology has been...

Objective: Congenital Hyperinsulinism (CHI) is a clinically, genetically and histologically heterogenous diesease. In recent years substantial developements have been observed in the genetics, imaging techniques and treatment options. We herein present the clinical characteristics, genetics and follow-up of 31 CHI patients from a single paediatric endocrine center with a particular emphasis on the new treatment options.Patients and method: Clinical chara...

Introduction: Neonatal diabetes mellitus (NDM) is a rare (1:300,000–400,000 newborns) but potentially devastating metabolic disorder characterized by hyperglycemia combined with low levels of insulin. Two main groups have been recognized, transient NDM (TNDM) and permanent NDM (PNDM).Objective: To describle clinical features and laboratory manifestations of patient with NDM and evaluate outcome of management.Subject and method...

Background: Monogenic diabetes represents a group of disorders resulting from a single gene defect leading to disruption of insulin secretion or a reduction in the number of beta cells. Despite the classification of monogenic diabetes according to age of onset, with neonatal DM (<6 months of age) and maturity onset diabetes of young (MODY) (>6 months and <25 years of age); not every case can be classified into those groups.Objective and hypot...

Background: Transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes mellitus that presents within the first 6 months of life with remission in infancy or early childhood. TNDM is mainly caused by anomalies in the imprinted region on chromosome 6q24; however, recently, mutations in the ABCC8 gene, which encodes sulfonylurea receptor 1, have also been implicated in TNDM.Objective and hypotheses: To describe clinical features and lab...

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: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare and life-threatening primary immunodeficiency characterized by widespread autoimmunity. Mutations in the FOXP3 gene have been identified as the cause for IPEX syndrome.Objective and hypotheses: To describe clinical characteristics and genetic finding in the first Vietnamese patient with mutation of FOXP3 gene.Meth...