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57th Annual ESPE

Athens, Greece
27 Sep 2018 - 29 Sep 2018

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ESPE 2018 57th European Society for Paediatric Endocrinology Annual Meeting 27-29 September 2018 Athens, Greece

Poster Presentations

Growth & Syndromes P1

Does X-Chromosome Gene Dosage Determine Growth and Phenotypic Features in Turner Syndrome with 45,X/46,XX Mosaicism on Standard Karyotyping? A Cross-Sectional Analysis of the French National Rare Disease Network Database
aPaediatric Endocrinology and Diabetology Department, Reference Centre for Endocrine Growth and Development Diseases, Robert Debre University Hospital, Paris, France; bClinical Epidemiology Unit, Robert Debré University Hospital, Paris, France; cEndocrinology Department, Reference Centre for Endocrine Growth and Development Diseases, Saint-Antoine University Hospital, Paris, France; dReference Centre for Endocrine Growth and Development Diseases, Paris, France
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Abstract unavailable
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Analysis of Osteoblats Precursors in Girls with Turner Syndrome
aDepartment of Basic Medical Sciences, Neuroscience and Sense Organs, Section of Human Anatomy and Histology, University ‘A. Moro’ of Bari, Bari, Italy; bDepartment of Biomedical Sciences and Human Oncology, Pediatric Section, University ‘A. Moro’ of Bari, Bari, Italy; cDepartment of Emergency and Organ Transplantation, University ‘A. Moro’ of Bari, Bari, Italy; dNeonatal Intensive Care Unit, Di Venere Hospital, Bari, Italy
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Comparing the Cumulative Dose of Growth Hormone Therapy Using Body Weight-Based Dosing Versus Body Surface Area-Based Dosing in Children with Turner Syndrome - Data from the ANSWER Study
aCincinnati Children’s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA; bThe Saban Research Institute, Children’s Hospital Los Angeles, Keck School of Medicine of USC, Los Angeles, CA, USA; cDepartment of Pediatrics, Thomas Jefferson University, Philadelphia, PA, USA; dDuPont Hospital for Children, Wilmington, DE, USA; eNovo Nordisk Inc., Plainsboro, NJ, USA
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The Association between Growth Hormone Dose and Short-Term Height Outcomes in a Large Cohort of Paediatric Patients with Turner Syndrome: Real-World Data from the NordiNet® International Outcome Study (IOS) and ANSWER Program
aDepartment of Endocrinology, Alder Hey Children’s NHS Foundation Trust, Liverpool, UK. bDepartment of Pediatric Endocrinology, University Children’s Hospital, Saarland University Medical Center, Homburg, Germany. cEpidemiology, Novo Nordisk A/S, Søborg, Denmark. dGlobal Medical Affairs, Novo Nordisk Health Care AG, Zurich, Switzerland. eCincinnati Children’s Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
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Changing Patterns of Growth in Prader-Willi Syndrome
aUniversity of Glasgow, Glasgow, UK; bDevelopmental Endocrinology Research Group, University of Glasgow, Glasgow, UK
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Sleep-Disordered Breathing in Children with Prader-Willi Syndrome in relation to Growth Hormone Therapy Onset
aUniversity Hospital, Bonn, Germany; bChildren’s Hospital, Hildesheim, Germany
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Safety and Effectiveness of Growth Hormone Treatment in Patients with Prader-Willi Syndrome under 2 Years of Age in a Reference Hospital
aPediatric Endocrine Department, Parc Taulí Hospital Universitari, Institut d’Investigació i Innovació Parc Taulí I3PT, UAB, Sabadell, Spain; bPediatric Department, Parc Taulí Hospital Universitari, Institut d’Investigació i Innovació Parc Taulí I3PT, UAB, Sabadell, Spain; cPediatric Genetic Department, Parc Taulí Hospital Universitari, Institut d’Investigació i Innovació Parc Taulí I3PT, UAB, Sabadell, Spain
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Improved Mental and Motor Development During 3 Years of GH Treatment in Very Young Children with Prader-Willi Syndrome
aDutch Growth Research Foundation, Rotterdam, Netherlands; bErasmus University Medical Center-Sophia Children’s Hospital, Rotterdam, Netherlands
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GH Response to GHRH and Arginine in Previously GH-Treated Young Adults with Prader-Willi Syndrome
aDutch Growth Research Foundation, Rotterdam, Netherlands; bErasmus University Medical Center-Sophia Children’s Hospital, Rotterdam, Netherlands
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A Novel Type of Pubertal Height, Weight, and BMI Reference, Aligned for Onset of Puberty
aInst Neuroscience and Physiology, Gothenburg, Sweden; bGP-GRC, Department of Pediatrics, Inst Clinical Sciences, Gothenburg, Sweden; cDept Pediatrics, Halmstad Hospital, Halmstad, Sweden; dIKI, Gothenburg University, Gothenburg, Sweden; eEPSO, Inst of Medicin, Sahlgrenska Academy, Gothenburg University, Gothenburg, Sweden
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Evaluating Cut-offs for Automatic Growth Screening in Swedish Children - Using the Finnish Growth Monitoring Algorithm
aDepartment of Pediatrics, Institute of Clinical, Gothenburg, Sweden; bDepartment of Pediatrics, Halmstad Hospital, Halmstad, Sweden; cDepartment of Pediatrics, Kuopio University Hospital, Kuopio, Finland; dCentre for Endocrinology, Queen Mary University of London, London, UK; eInstitute of Neuroscience and Physiology, Gothenburg, Sweden
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Prospective Study of Growth in Swedish Children Treated with Modified Ketogenic Diet
aDepartment of Pediatrics, The Queen Silvia Children’s Hospital, Gothenburg, Sweden; bInstitution of Clinical Sciences, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden; cDepartment of Clinical Chemistry, Linköping University, Linköping, Sweden
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Early Gut Microbiota and childhood Growth
aNTNU – Norwegian University of Science and Technology, Trondheim, Norway; bObeCe – Regional Centre for Obesity Research and Innovation, Trondheim, Norway; cUniversity of Bergen, Bergen, Norway; dNMBU – Norwegian University of Life Sciences, Æs, Norway
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Clinical and Radiological Manifestations in a Large Swedish Family with a Pathogenic Heterozygous ACAN Variant
aKarolinska Institutet and University Hospital, Stockholm, Sweden; bSunderby Hospital, Sunderbyn, Sweden; cÖrebro University and University Hospital, Örebro, Sweden; dDepartment of Immunology, Genetics, and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden
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Dual Function of the Retinoic Acid Catabolizing Enzyme CYP26C1 - Underlying Idiopathic Short Stature and Modifying Disease Severity in SHOX Deficiency
aDepartment of Human Molecular Genetics – Institute of Human Genetics - Heidelberg University, Heidelberg, Germany; bDepartment of Internal Medicine III – Cardiology - Heidelberg University, Heidelberg, Germany; cDepartment of Molecular Endocrinology - National Research Institute for Child Health and Development, Tokyo, Japan; dInstitute of Human Genetics - Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; eChildren’s Hospital Krefeld, Krefeld, Germany; fChildren’s Hospital, University of Tübingen, Tübingen, Germany. gDivision of Endocrinology and Metabolism – National Center for Child Health and Development, Tokyo, Japan; hDepartment of Pediatrics - Hamamatsu University School of Medicine, Hamamatsu, Japan
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Genetic Investigation of Children with Syndromic Prenatal Onset Short Stature
aUnidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Sao Paulo, Brazil; bUnidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM42, Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Sao Paulo, Brazil; cUnidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM42, Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Sao Paulo, Brazil; dUnidade de Genetica do Instituto da Criança, Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Sao Paulo, Brazil; eDivision of Endocrinology, Cincinnati Children’s Hospital Medical Center, Cincinnati, USA; fDepartment of Internal Medicine, Division of Metabolism, Endocrinology and Diabetes, University of Michigan, Ann Arbor, USA; gUnidade de Endocrinologia Pediatrica, Departamento de Pediatria, Irmandade da Santa Casa de Misericórdia de São Paulo, Faculdade de Ciências Médicas da Santa Casa de São Paulo, Sao Paulo, Brazil
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Identification of Three Novel Mutations in 10 Pediatric Patients with Unexplained Syndromic Short Stature Identified by Targeted Exome Sequencing in Korea
aPusan National University Children’s Hospital, Yangsan si, Republic of Korea; bChungnam National University Hospital, Daejeon, Republic of Korea
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Beckwith Wiedemann Syndrome: First International Consensus Regarding Diagnosis and Clinical Management
aSorbonne Université, INSERM UMR_S938 Centre de Recherche Saint-Antoine (CRSA), APHP Hôpital Trousseau, Paris, France; bDivision of Human Genetics, Children’s Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA; cDepartment of Public Health and Pediatric Sciences, University of Torino, Torino, Italy; dNeonatal Intensive Care Unit, Department of Gynaecology and Obstetrics, Sant’Anna Hospita, Torino, Italy; eBirmingham Health Partners, West Midlands Regional Genetics Service, Birmingham Women’s and Children’s National Health Service (NHS) Foundation Trust, Birmingham, UK; fInstitute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK; gDepartment of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands; hClinical Genetic Unit, Department of Pediatrics, Zealand University Hospital, Roskilde, Denmark; iBeckwith -- Wiedemann Support Group UK, Dorset, United Kingdom; jItalian Association of Beckwith -- Wiedemann syndrome (AIBWS), Vergiate, Italy; kAlma Mater Studiorum, Bologna University, Paediatric Department, Neonatology Unit, Bologna, Italy; lAix-Marseille Univ et Assistance Publique Hôpitaux de Marseille (APHM), Hôpital d’Enfants de La Timone, Marseille, France; mPediatric Orthopaedic Unit IRCCS Ospedale San Raffaele, Milan, Italy; nDepartment of Paediatric Medicine, Division of Endocrinology, Sidra Medical and Research Center, Doha, Qatar; oDepartment of Medical Genetics, The Children’s Memorial Health Institute, Warsaw, Poland; pPediatric Hematology and Oncology, Hannover Medical Schoo, Hannover, Germany; qDepartment of Clinical Genetics, United Laboratories, Tartu University Hospital and Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia; rEuropean Society for Paediatric Nephrology (ESPN), Inherited Kidney Disorders Working Group, Regina Margherita Children’s Hospital, Torino, Italy; sService de Pédiatrie, Hôpitaux Universitaires de Strasbourg, Laboratoire de Génétique Médicale, INSERM U1112, Strsbourg, France; tMedical Cytogenetics and Molecular Genetics Laboratory, Centro di Ricerche e Tecnologie Biomediche IRCCS, Istituto Auxologico Italiano, Milan, Italy; uGreat Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, Londn, UK; vDepartment of Pediatrics, The Medical University of Warsaw, Warsaw, Poland; wSouth West Thames Regional Genetics Service and St George’s University of London and Institute of Cancer Research, London, UK; xInstituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrd, Spain; yCIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain; zRegional Center for CLP, Smile House, San Paolo University Hospital, Milan, Italy; aaKennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; bbDepartment of Pediatrics, Emma Children’s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands; ccCenter for Pediatrics and Adolescent Medicine, Johannes Gutenberg University Medical Center, Mainz, Germany; ddInstitute of Human Genetics, University Hospital, Technical University of Aachen, Aachen, Germany; eeHuman Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK; ffDepartment of Environmental, Biological, and Pharmaceutical Sciences and Technologies(DiSTABiF), University of Campania Luigi Vanvitelli, Caserta and Institute of Genetics and Biophysics A. ‘‘Buzzati-Traverso’’, Napoli, Italy; ggDepartment of Medical Genetics, University of Cambridge and National Institute for Health Research (NIHR) Cambridge Biomedical Research Centre and Cancer Research UK Cambridge Centre, Cambridge, UK
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Silver Russell and Beckwith-Wiedemann Syndromes: Mosaic Distribution of Epigenetic Anomalies
Sorbonne Université, Centre de Recherche Saint Antoine (CRSA), Hôpital Armand Trousseau, Paris, France
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Long Term Effects of Childhood Growth Hormone Treatment on Height and Body Mass Index in Adolescents and Adults with Silver-Russell Syndrome
aWessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Coxford Road,, Southampton, SO16 5YA, UK; bHuman Development and Health, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK; cSorbonne Université, INSERM, UMR_S 938 Centre de Recherche Saint Antoine, APHP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, F-75012, Paris, France; dUnidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42 do Hospital das Clinicas, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, 05403-900, Sao Paulo, Brazil; eAP-HP, Hôpitaux Universitaires Paris Est (AP-HP) Hôpital des Enfants Armand Trousseau, Service d’Explorations Fonctionnelles Endocriniennes, 26 avenue du Dr Arnold Netter, 75012, Paris, France; fCentre de Recherche Saint Antoine, INSERM UMR S938, 34 rue Crozatier, 75012, Paris, France; gSorbonne Universities, UPMC UNIV Paris 06, 4 place Jussieu, 75005, Paris, France; hUniversity Children’s Hospital, Pediatric Endocrinology, Hoppe-Seyler-Strasse 1, 72072, Tuebingen, Germany; iChild Growth Foundation, Edgware, HA8 7RA, UK; jNorth West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Watford Road, Harrow, HA1 3UJ, UK; kUniversity Children’s Hospital, Pediatric Endocrinology, Hoppe-Seyler-Strasse 1, 72070, Tuebingen, Germany; lMRC Lifecourse Epidemiology Unit, University of Southampton, Southampton, SO16 6YD, UK; mNIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, SO16 6YD, UK; nNutrition and Metabolism, Human Development and Health Academic Unit, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK; oDepartment of Endocrinology, Southampton Children’s Hospital, University Hospital Southampton NHS Foundation Trust, Southampton, SO16 6YD, UK
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Year-one Effectiveness and Overall Safety of NutropinAq® for Growth Hormone Deficiency (GHD) and Other Paediatric Growth Disorders: Completion of the International Cooperative Growth Study (iNCGS) European Registry
aCentre Hospitalier Universitaire d’Angers, Angers, France; bHospital Arnau de Vilanova, LLeida, Spain; cC.I. Parhon National Institute of Endocrinology, Bucharest, Romania; dChildren’s Hospital, Charité – University Medicine Berlin, Berlin, Germany; eIpsen, Boulogne-Billancourt, France; fUCL Institute of Child Health and Great Ormond Street Hospital for Children, London, UK
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Carriers of IGF1-receptor Mutations As A Subgroup of SGA Patients: A Comprehensive Retrospective Comparison of Response to rhGH Treatment and Health Profile
aLeipzig University Medical Center, IFB Adiposity Diseases, University of Leipzig, Leipzig, Germany; bCenter for Pediatric Research Leipzig, University of Leipzig, Leipzig, Germany; cDepartment of Pediatric Endocrinology and Diabetology, University Hospital Munich, Leipzig, Germany; dDivision of Endocrinology, Hotel-Dieu de France Hospital, Saint-Joseph University, Beirut, Lebanon; eUniversity Clinic of Child Diseases, Faculty of Medicine, Ss Cyril and Methodius University of Skopje, Skopje, Macedonia, the former Republic of Yugoslav; fDepartment of Pediatrics Center of Excellence on Aging, “G. D’Annunzio” University Foundation, Chieti, Italy; gMedical Center for Internal Medicine, Klinikum Ernst von Bergmann, Potsdam, Germany; hPediatric Cardiology, Leipzig Heart Center, Leipzig, Germany; iClinical Trial Centre, University Leipzig, Leipzig, Germany; jGrowth Network CrescNet, University of Leipzig, Leipzig, Germany
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Characteristics, Effectiveness and Safety Data for Patients with Growth Failure Treated with Recombinant IGF-I (rhIGF-I) and Achieving Adult or Near-adult Height (AH): Results from the European Increlex® Growth Forum Database (EU-IGFD) Registry
aHôpital Universitaire Necker Enfants Malades, Paris, France; bUniversité Paris Descartes, Paris, France; cChildren’s Hospital, University of Bonn, Bonn, Germany; dIpsen Pharma, Boulogne-Billancourt, France; eLinköping University, Linköping, Sweden
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Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Six Patients
aDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan; bDivision of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan; cDepartment of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Nagano, Japan; dDepartment of Pediatrics, Central Hospital, Aichi Human Service Center, Aichi, Japan; eDepartment of Pediatrics, Japan Community Health Care Organization Hokkaido Hospital, Sapporo, Hokkaido, Japan; fDepartment of Pediatrics, Tohoku University School of Medicine, Sendai, Miyagi, Japan; gInstitute Director, National Research Institute for Child Health and Development, Tokyo, Japan; hDepartment of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan; iDivision of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
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A Novel Deadly Variant in the TP53 Gene Causing Li-Fraumeni Syndrome. The Importance of Clinical Awareness and the Contribution of Molecular Diagnosis in Active Prevention Within Families with Multiple Tumor Incidents at a Young Age
aGoethe University Clinic, Frankfurt am Main, Germany; bMitera children’s Hospital Surgical Pediatric Oncology, Athens, Greece; cPrivate Practice Pediatrician, Aigina Island, Greece; dNICHD/NIH, Bethesda, USA; eDepartment of Pediatric-Adolescent Endocrinology & Diabetes, Athens Medical Center, Athens, Greece
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Mutations in SHOX, GHR and IGFALS Genes Among Indian Children with 'Idiopathic Short Stature'
All India Institute of Medical Sciences, New Delhi, India
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