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54th Annual ESPE

Barcelona, Spain
01 Oct 2015 - 03 Oct 2015

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Barcelona, Spain; 1-3 October 2015 Further information

Poster Category 3

Hypo

Cystic Encephalomalacia and Infantile Spasm as a Complication of Transient and Mild Hyperinsulinemic Hypoglycemia
aDepartment of Pediatric Endocrinology, Faculty of Medicine, Adnan Menderes University, Aydin, Turkey; bDepartment of Neonatology, Faculty of Medicine, Adnan Menderes University, Aydin, Turkey; cDepartment of Pediatric Neurology, Faculty of Medicine, Adnan Menderes University, Aydin, Turkey; dDepartment of Radiology, Faculty of Medicine, Adnan Menderes University, Aydin, Turkey
hrp0084p3-1058
Hyperglycemia Preceded by Neonatal Hyperinsulinemic Hypoglycemia in Infants with Novel HNF1A Mutations
aDepartment of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic; bDepartment of Clinical Science, KG Jebsen Center for Diabetes Research, University of Bergen, Bergen, Norway
hrp0084p3-1059
Transient Congenital Hyperinsulinism and Renal Fanconi Syndrome
aUniversity Hospital Freiburg, Freiburg, Germany; bCenter for Human Genetics Freiburg, Freiburg, Germany
hrp0084p3-1060
Clinical Characteristics and Molecular Analysis of Turkish Patients with Congenital Hyperinsulinism: a Single-Centre Experience with 15 Cases
aDr Sami Ulus Children’s Health and Disease Training and Research Hospital, Ankara, Turkey; bInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK; cDepartment of Paediatric Endocrinology, Great Ormond Street Hospital for Children NHS Trust, London, UK
hrp0084p3-1061
Genotype-Phenotype Associations in 90 Children with Congenital Hyperinsulinism
aEndocrine Research Center, Moscow, Russia; bH.C.Andersen Children’s Hospital, Odense University Hospital, Odense, Denmark; cMorozovskaya Children City Clinical Hospital, Moscow, Russia; dRussian Children Clinical Hospital, Moscow, Russia; eUniversity of Exeter Medical School, Exeter, UK; fGreat Ormond Street Hospital for Children, London, UK
hrp0084p3-1063
Congenital Hyperinsulinism in a Newborn with a Novel Paternally Inherited Heterozygous Mutation (p.E1517G) in the ABCC8 Gene
aAin Shams University, Cairo, Egypt; bInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK; cGenetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme, UCL Institute of Child Health, Great Ormond Street Hospital for Children, 30 Guilford Street, London WC1N 1EH, UK
hrp0084p3-1066
Discontinuation of Diazoxide Therapy in Children with Hyperinsulinaemic Hypoglycaemia with no Identified Genetic Aetiology: a Long-term Follow-up Study
aDepartment of Paediatric Endocrinology, Royal Hospital, Muscat, Oman; bDepartment of Paediatric Endocrinology, Great Ormond Street Hospital of Children, London, UK; cDepartment of Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, University College, Institute of Child Health, London, UK; dUniversity of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter EX2 5DW, London, UK
hrp0084p3-1067
Pancreatic Hormones in Children with Hyperinsulinaemic Hypoglycaemia
aDepartment of Endocrinology, Great Ormond Street Hospital for Children, NHS Foundation Trust, WC1N 3JH, London, UK; bDevelopmental Endocrinology Research Group, Clinical and Molecular Genetics, University College London, Institute of Child Health, WC1N 1EH, London, UK
hrp0084p3-1068
Experience Based on 193 18F-DOPA PET CTs in Patients with Congenital Hyperinsulinism: Pearls and Pitfalls in Imaging Diagnostics in Patients with CHI
aInstitute for Paediatric Endocrinology, Charité Universitätsmedizin Berlin, Berlin, Germany; bClinic of Nuclear Medicine, Charité Universitätsmedizin Berlin, Berlin, Germany; cDTZ am Frankfurter Tor, Berlin, Germany
hrp0084p3-1069
Severe Neonatal Hypoglycemia in the Newborn Despite Prenatal Diagnosed Cerebral Midline Malformations: a Review of Three Cases
aDivision of Paediatric Radiology, Department of Paediatrics, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany; bDepartment of Gynaecology and Obstetrics, Hospital Ebersbach, Ebersbach, Germany; cDepartment of Paediatrics, Hospital Görlitz, Görlitz, Germany
hrp0084p3-1070
Auxological Characteristics of Persistent Hyperinsulinemic Hypoglycemia at Birth
aDepartment of Pediatrics, Keio University School of Medicine, Tokyo, Japan; bDepartment of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan
hrp0084p3-1073
Congenital Hyperinsulinism in Siblings: Case Report
Clinic of Pediatrics, Diabetology and Endocrinology, Medical University of Gdansk, Gdansk, Poland
hrp0084p3-1074
Genetic Causes of Congenital Hyperinsulinism in Slovakia
aFirst Department of Pediatrics, Faculty of Medicine at Comenius University, Bratislava, Slovakia; bDIABGENE Laboratory, Institute of Experimental Endocrinology, Slovak Academy of Sciences, Bratislava, Slovakia; cDepartment of Intensive Care in Neonatology, Faculty of Medicine at Comenius University, Bratislava, Slovakia
hrp0084p3-1075
Hyperinsulinism Secondary to Congenital Portosystemic Shunt in a Neonate
Department of Pediatrics, Bucheon, Republic of Korea
hrp0084p3-1076
Clinical Presentation of a Patient with a Novel Homozygous Mutation in the TRPM6 Gene
aDenizli State Hospital Clinic of Pediatrics, Denizli, Turkey; bDepartment of General Pediatrics, University Children’s Hospital, Münster, Germany
hrp0084p3-1077
Long Acting Somatostatin Analogues in the Management of Congenital Hyperinsulinism in Cases with Poor Compliance to Conventional Therapy
aDepartments of Paediatric Endocrinology, Faculty of Medicine, Hacettepe University, Ankara, Turkey; bGazi Yasargil Training and Research Hospital, Paediatrics, Diyarbakir, Turkey; cGazi Yasargil Training and Research Hospital, Paediatric Endocrinology, Diyarbakir, Turkey; dDepartments of Paediatric Endocrinology, University College London, Institute of Child Health, Great Ormond Street Hospital for Children, London, UK; eUniversity of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, UK
hrp0084p3-1078
Isolated Postprandial Hyperinsulinaemic Hypoglycaemia
aDepartment of Endocrinology, Great Ormond Street Hospital for Children, NHS Foundation Trust, WC1N 3JH London, UK; bDevelopmental Endocrinology Research Group, Clinical and Molecular Genetics, University College London, Institute of Child Health, WC1N 1EH London, UK; cDepartment of Paediatric Endocrinology, Alder Hey Children’s Hospital, Liverpool, UK
hrp0084p3-1079
Severe Congenital Hyperinsulinism in a Neonate Homozygous for Two Novel Missense Mutations in the KCNJ11 Gene
aDivision of Pediatric Endocrinology, Hacettepe University, Ankara, Turkey; bDivision of Pediatric Pathology, Hacettepe University, Ankara, Turkey; cInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK; dDepartment of Pediatric Surgery, Hacettepe University, Ankara, Turkey
hrp0084p3-1080
HYNIC TOC: a New Radionuclide Material in the Evaluation of Persistent Hyperinsulinaemic Hypoglycaemia of Infancy: an Alternative to 18F-DOPA?
aKovai Medical Center and Hospital, Coimbatore, Tamil Nadu, India; bApollo Children’s Hospital, Chennai, Tamil Nadu, India
hrp0084p3-1082
Cholestatic Hepatopathy and Hypoglycaemic Seizures as Primary Manifestation of Hypocortisolism in Infancy
aUniversity Children’s Hospital, Düsseldorf, Germany; bBioscientia Laboratory, Ingelheim, Germany
hrp0084p3-1083