ESPE Abstracts

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...

Background and Aims: Congenital hyperinsulinism (HI) is the most frequent cause of severe, persistent hypoglycemia in newborn babies and children. The disease may occur in isolation or can present as part of a syndrome. Routine screening of the known etiological genes (n = >20) identifies a disease-causing mutation in 40-50% of all cases. An accurate and timely genetic diagnosis is clinically important for all individuals as understanding the unde...

Congenital hyperinsulinism (CHI) results from inappropriate insulin secretion most commonly caused by mutations in the ABCC8 and KCNJ11 genes which encode for the pancreatic β-cells-ATP-sensitive-potassium channel (KATP) subunits SUR1 and KIR6.2 respectively. Diagnosis of CHI is based on the presence of detectable plasma insulin during hypoglycemia, suppressed β-hydroxybutyrate and NEFA. Diazoxide is the major treatment for CHI, sirolimus had also b...

Objectives: To test whether Gabra5 in POMC neurons regulates energy balance and glucose metabolism in sexually dimorphic fashion.Methods: POMC-Cre mice received stereotaxic injections of AAV-FLEX-scCAS9 and AAV-FLEX-Gabra5-sgRNA-tdTOMATO into ARH to generate pomc-Gabra5 KO mice. Both male and female mice were fed on regular chow diet or HFD. Food intake, body weight and anal temperature were measured every 4 days. Fat/le...

Congenital hyperinsulinism (CHI) is a rare hereditary condition that causes excessive insulin production in the clinical picture of severe hypoglycemia. Patients with CHI frequently have mutations in the ABCC8 and KCNJ11 genes, which code for KATP channels in pancreatic beta cells. We present a case of partial diazoxide responsiveness caused by a heterozygous ABCC8 mutation in a child with moderate CHI. A four-month-old term baby with a ...

Objective: To observe and analyze the efficacy and safety of autologous stem cell transplantation (AHSCT) in children with type 1 diabetes.Methods: Twelve children were enrolled in our study who were newly diagnosed as type 1 diabetes in Children's Hospital of Fudan University from Sep. 2009 to Dec. 2011. Changes in the exogenous insulin requirement were observed and HbA1C and C peptide level were measured before and...

Growth differentiation factor 5 (GDF5) was reported to regulate brown adipogenesis, however, its effects on insulin sensitivity, full metabolic syndrome spectrum and the thermogenesis in subcutaneous white adipose tissue (sWAT) haven't been elucidated yet. We thus generated fatty acid-binding protein 4 (Fabp4)-GDF5 transgenic mice and showed that GDF5 transgenic mice developed a relative lean phenotype on a high-fat diet (HFD) and showed increased insulin sensitivity. Over...

Objective: To explore the clinical and molecular genetic characteristics of congenital lipoid adrenal hyperplasia (CLAH), and to sequence the acute regulatory protein (steroid acute regulatory, StAR) gene of the infant patient and her pedigree.Methods: Physical examination, laboratory tests, and imaging examination of the 1-month- old patient with CLAH were collected. DNA was extracted from blood samples of the patient a...

Objective: To observe and analyze the efficacy and safety of autologous stem cell transplantation (AHSCT) in children with type 1 diabetes.Methods: Twelve children were enrolled in our study who were newly diagnosed as type 1 diabetes in Children’s Hospital of Fudan University from Sep 2009 to Dec 2011. Changes in the exogenous insulin requirement were observed and HbA1C and C peptide level were measured before and after AHSCT.<p class="abstext"...

Background: Appetite change and metabolic complications have been studied to understand implications in the elderly cardiometabolic health. Peptide YY (PYY) plays an important role in appetite regulation; therefore is associated with obesity risks and metabolic syndrome (MetS). MetS risk reported to differ in multiple racial categories, yet the mechanisms that drive this risk are not well understood.Objective and hypotheses: Our overall research aim is t...