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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
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
Unusual Clinical Manifestations in Turner Syndrome
The State Center for Medical Rehabilitation, Minsk, Belarus
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
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
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
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
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
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
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
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
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
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
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
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
Unusual Case of Combination of Beckwith-Wiedemann Syndrome and SHOX Gene Deficiency
aSan Raffaele Hospital, Milano, Italy; bIstituto Auxologico Italiano, Milano, Italy
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
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
A Novel Heterozygous Missense Variant in the LZTR1 Gene as a Cause of Noonan Syndrome
Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
A Novel FGFR1 Mutation in Kallmann Syndrome with Growth Hormone Deficiency
aIRCCS Burlo Garofolo, Trieste, Italy; bUniversity of Trieste, Trieste, Italy
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
Case Report: Ellis Van Creveld Syndrome With a Novel Mutation
aŞanlıurfa Research and Education Hospital, Şanlıurfa, Turkey; bMardin State Hospital, Mardin, Turkey
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
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
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
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
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
Abstract unavailable
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
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
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
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