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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 P2

The Validation of an Automated Bone Age Assessment in Girls with Turner Syndrome - A Pilot Study
Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic
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Turner Syndrome and Autoimmune Thyroid Disease: Pecularities of Evolution in 93 Turner Syndrome Patients
aC.I. Parhon National Institute of Endocrinology, Bucharest, Romania; bCarol Davila University of Medicine, Bucharest, Romania
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Unusual Clinical Manifestations in Turner Syndrome
The State Center for Medical Rehabilitation, Minsk, Belarus
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Familial Turner Syndrome: Case Report
aEndocrinologia, Hospital de Niños Pedro de Elizalde, Buenos Aires, Argentina; bGenetica, Hospital de Niños Pedro de Elizalde, Buenos Aires, Argentina; cAPI, Asistencia Pediátrica Integral, Buenos Aires, Argentina
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Clinical Review of Seven Patients Affected with 49,XXXXY Syndrome
Department of Pediatrics. Parc Tauli Hospital Universitari. Institut d’Investigacio i Innovacio Parc Tauli I3PT, Universitat Autonoma de Barcelona, Sabadell, Spain
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Poor Weight Gain in Prader-Willi Syndrome - Not Always Over-restriction Consider Coeliac Disease
aDepartment of Paediatric Endocrinology and Diabetes, National Children’s Hospital, Tallaght University Hospital, Dublin, Ireland; bTrinity College Dublin, The University of Dublin, Dublin, Ireland
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GH Unmasked Laryngomalacia and worsened Obstructive Sleep Apnea in Infants with Prader-Willi Syndrome
aSeattle Children’s Hospital, Division of Endocrinology, University of Washington, Seattle, WA, USA; bSeattle Children’s Hospital, Division of Pulmonary and Sleep Medicine, University of Washington, Seattle, WA, USA; cSeattle Children’s Hospital, Division of Child Neurology, University of Washington, Seattle, WA, USA; dSeattle Children’s Hospital, Division of Otolaryngology, University of Washington, Seattle, WA, USA
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GrowInform - A Campaign for Early Diagnosis and Treatment of Growth Disorders
aUMHAT “Sv. Marina”, Varna, Bulgaria; bDepartment of Pediatrics, Medical University of Varna, Varna, Bulgaria
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Growth and Body Composition of Term Healthy Indian Infants from Birth to 2 Years of Age
aAll India Institute of Medical Sciences, New Delhi, India; bSt. John’s Medical College, Bengaluru, India
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Growth, Body Composition and Metabolic Parameters during Childhood in a Cohort of Children Born with a Small for Gestational Age
aDepartment of Paediatrics, University of Cambridge, Cambridge, UK; bCambridge University Hospitals NHS Foundation Trust, Cambridge, UK; cNIHR/Wellcome Trust Clinical Research Facility, Addenbrooke’s Hospital, Cambridge, UK; dMedical Research Council Epidemiology Unit, University of Cambridge, Cambridge, UK
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Final Results of NordiNet® International Outcome Study: Key Outcomes in Paediatric Patients
aEndocrinologie, Gynécologie et Diabétologie Pédiatriques, Hôpital Universitaire Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris Université Paris Descartes, INSERM U1016, Institut IMAGINE, Centre de Référence des Maladies Endocriniennes Rares de la Croissance et du Dévelopement, Paris, France; bDepartment of Endocrinology, Alder Hey Children’s NHS Foundation Trust, Liverpool, UK; cDepartment of Pediatric Endocrinology, University Children’s Hospital, Saarland University Medical Center, Homburg, Germany; dGlobal Medical Affairs, Novo Nordisk Health Care AG, Zurich, Switzerland; eEpidemiology, Novo Nordisk A/S, Søborg, Denmark; fDepartment of Women’s and Children’s Health, Pediatric Endocrinology Unit, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden
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Influence of Puberty on Adult Height of SGA Children Treated with GH
aChildren’Hospital, Málaga, Spain; bSanta Lucia Hospital, Cartagena, Spain; cGranollers Hospital, Barcelona, Spain; dChildren’Hospital, Malaga, Spain; eSalamanca Hospital, Salamanca, Spain
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Burden and Impacts of Daily Recombinant Human Growth Hormone (r-hGH) Injections in Growth Hormone Deficient (GHD) Paediatric Patients
aPfizer Ltd, Tadworth, UK; bPfizer Inc, San Diego, USA; cAdelphi Values, Boston, USA; dAdelphi Research, Doyelstown, USA; ePfizer Inc, Collegeville, USA
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Clinical and Cost-Effectiveness of GH Treatment for Children in Wales
aResearch Methodology Department, University of Medicine and Pharmacy, Tirgu Mures, Romania; bDepartment of Child Health University Hospital of Wales, Cardiff, UK; cDivision of Population Medicine, School of Medicine, Cardiff University, Cardiff, UK
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Clinical Effectiveness and Cost-Effectiveness of Somatropin Treatment for Short Children in Egypt: Analysis of 1-Year Data
aPediatric Department, DEMPU, Faculty of Medicine, Cairo University, Cairo, Egypt; bDepartment of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt
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Unusual Case of Combination of Beckwith-Wiedemann Syndrome and SHOX Gene Deficiency
aSan Raffaele Hospital, Milano, Italy; bIstituto Auxologico Italiano, Milano, Italy
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Two Different Variants of Short Stature Homeobox-Containing Gene (SHOX) Mutation in the Same Family
aDepartment of Pediatrics (Division of Pediatric Endocrinology and Diabetology), Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland; bLaboratory for Diagnostic Genome Analysis (LDGA), Dept. of Clinical Genetics, LUMC, Leiden, Netherlands
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Genetic Investigation of SHORT Stature: A Case Report of Complex Constitutive Rearrangement Involving Chromosome 15
aFederal University of Goias, Health Science PhD Program, Goiânia, Brazil; bFederal University of Goias, Professor of Pediatrics, Goiânia, Brazil; cPontifical Catholic University of Goiás, Department of Agricultural and Biological Sciences, Genetics Master’s Program, Replicon Research Group, Goiânia, Brazil; dHuman Cytogenetics and Molecular Genetics Laboratory, Secretary of Goias State for Public Health, Goiânia, Brazil
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A Novel Heterozygous Missense Variant in the LZTR1 Gene as a Cause of Noonan Syndrome
Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
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A Novel FGFR1 Mutation in Kallmann Syndrome with Growth Hormone Deficiency
aIRCCS Burlo Garofolo, Trieste, Italy; bUniversity of Trieste, Trieste, Italy
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A New Mutation in IHH Gene Causing Severe Short Stature
aDepartment of Woman, Child And of General and Specialist Surgery Università Degli Studi Della Campania ‘Luigi Vanvitelli’, Naples, Italy; bDepartment of Biochemistry, Biophysics and General Pathology Università Degli Studi Della Campania ‘Luigi Vanvitelli’, Naples, Italy; cTelethon Institute of Genetics and Medicine (TIGEM), Pozzuoli(NA), Italy
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Case Report: Ellis Van Creveld Syndrome With a Novel Mutation
aŞanlıurfa Research and Education Hospital, Şanlıurfa, Turkey; bMardin State Hospital, Mardin, Turkey
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Unexpected Growth Patterns in Branchio-Oto-Renal Syndrome
aChildren’s University Hospital, Temple St., Dublin, Ireland; bTallaght University Hospital, Tallaght, Dublin, Ireland; cTrinity College Dublin, Dublin, Ireland
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Mild Autistic Spectrum Disorder in a 33 Year-old Male Japanese Patient with Temple Syndrome
aDepartment of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan; bDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan; cNational Hospital Organization Hizen Psychiatric Center, Kanzaki, Japan
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KBG Syndrome: Our Experience and Unreported Clinical Features
aRare Diseases and Auxological Unit, Department of Pediatrics, Sant’Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy; bUnit of Medical Genetics, Department of Medical and Surgical Science, S.Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy
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Earlier Mother's Age at Menarche is a Risk Factor of Daughter's Early Menarche and Short Stature in Young Korean Female: Epidemiologic Study
aKorea Cancer Center Hospital, Seoul, Republic of Korea; bAju University, Suwon, Republic of Korea
hrp0089p2-p276
Pulling the Brakes - 'Catch Down Growth': A Phenomenon for Achieving Mid-parental Height Centile After Acquired, All-cause, Brain Injury
London Centre for Paediatric Endocrinology; Neuroendocrine Division at Great Ormond Street Hospital (GOSH) and University College London Hospital (UCLH), London, UK
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Abstract unavailable
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Skeletal Disproportion and Growth Impairment in Glucocorticoid Treated Boys with Duchenne Muscular Dystrophy
aDevelopmental Endocrinology Research Group, University of Glasgow, Glasgow, UK; bPaediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK; cScottish Muscle Network, Queen Elizabeth University Hospital, Glasgow, UK
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A Novel Mutation in the SLC2A2 Gene in a 19-Year-Old Female with Diabetes Mellitus and Renal Tubular Acidosis: A Therapeutic Conundrum
aDepartment of Pediatric Medicine, Division of Endocrinology, Sidra Medicine, Doha, Qatar; bConsultant-Endocrinology, HMC, Professor of Medicine, Weill Cornell Medicine-Qatar, Doha, Qatar
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Vesico-Ureteral Reflux and Effect on Growth Indices
aHoly Spirit University of Kaslik, Faculty of Medicine and Medical Sciences, Byblos, Lebanon; bCentre Hospitalier Universitaire Notre Dame de Secours, Byblos, Lebanon
hrp0089p2-p282
A Novel in Frame Deletion Mutation in Exon11 in BTK Gene to X-linked Agammaglobulinemia: Case Report and Function Analysis
aShengzhou Hospital, Shaoxin, China; bZhejiang University, Hangzhou, China
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