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55th Annual ESPE

Paris, France
10 Sep 2016 - 12 Sep 2016

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Paris, France: 10-12 September 2016 Further information

Poster Presentations

Bone & Mineral Metabolism P1

Knock in of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP-dependent Protein Kinase A Activation: A Model of Acrodysostosis Type 1?
aINSERM U1169, Hôpital Bicêtre, University Parus Sud, Le Kremlin-Bicêtre, France; bEA 2496, UFR Odontologie, University Paris Descartes, Montrouge, France; cINSERM U970, University Paris Descartes, Paris, France
hrp0086p1-p98
Cord 25-Hydroxyvitamin D and Infant Cranial Growth: An Odense Child Cohort Study
aHans Christian Andersen Children’s Hospital, Odense University Hospital, University of Southern Denmark, Odense C, Denmark; bEnvironmental Medicine, Odense University Hospital, University of Southern Denmark, Odense C, Denmark
hrp0086p1-p100
Effect of Bisphosphonates on Bone Fragility Due to Chronic Liver Disease in Ten Children
aReference Center for Rare Disorders of the Mineral Metabolism, Le Kremlin Bicêtre, France; bPlatform of Expertise for Rare Diseases Paris-Sud, Le Kremlin Bicêtre, France; cReference Center for Biliary Atresia Disorder, Le Kremlin Bicêtre, France
hrp0086p1-p101
Radiologically Confirmed Fractures in a Scottish Nationwide Cohort of Boys with Duchenne Muscular Dystrophy
aDevelopmental Endocrinology Research Group The Royal Hospital for Children, Glasgow, UK; bPaediatric Neurosciences Research Group The Royal Hospital for Children, Glasgow, UK; cWest of Scotland Genetic Services Queen Elizabeth University Hospital, Glasgow, UK; dThe Department of Paedaitrcics Forth Valley Royal Hospital, Stirling, UK; eThe Department of Paediatric Neurology The Royal Hopistal for Sick Children, Edinburgh, UK; fRainbow House Ayrshire Central Hospital, Ayrshire, UK; gArmitstead Child Development Centre King’s Cross Hospital/Ninewells Hospital, Dundee, UK; hThe Royal Aberdeen Children’s Hospital, Aberdeen, UK; iThe Department of Paediatrics Raigmore Hospital, Inverness, UK
hrp0086p1-p102
Monostotic Fibrous Dysplasia is a Single Disorder Caused by Somatic Mosaic Activating Mutations in GNAS
aDepartment of Pediatrics, Keio University School of Medicine, Tokyo, Japan; bDepartment of Plastic and Reconstructive Surgery, Keio University School of Medicine, Tokyo, Japan; cDepartment of Radiology, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan
hrp0086p1-p103
Clinically Significant Fracture Incidence in Czech Children: A Population-based Study
Department of Paediatrics, Charles University in Prague and Motol University Hospital, Prague, Czech Republic
hrp0086p1-p104
Bone Mineral Density, Pubertal Status and Ability to Walk are Associated to Fracture Incidence in Patients with Rett Syndrome
aDepartment of Pediatric Endocrinology and Diabetes, Centre de Reference des Maladies Rares du Metabolisme du Calcium et du Phosphore, Bicetre Hospital, Paris Sud University, Le Kremlin Bicetre, France; bInsitute for Endocrine and Metabolic Research, Hospital Cochin, Paris-Descartes University, Paris, France; cInserm U1016, Institut Cochin, Université Paris-Descartes, Paris, France; dPediatric Neurology, Necker Enfants Malades University Hospital, Paris, France.
hrp0086p1-p106
Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome
aHealth Science Department, Anna Meyer Children’s University Hospital, University of Florence, Florence, Italy; bDepartment of Health Sciences, Careggi Hospital, University of Florence, Florence, Italy; cDepartment of Paediatrics, University of Chieti, Chieti, Italy; dDepartment of Paediatrics, University of L’Aquila, L’Aquila, Italy; eGenetics and Molecular Medicine Unit, Anna Meyer Children’s University Hospital, Florence, Italy
hrp0086p1-p107
Tolerability and Feasibility of Whole Body Vibration and its Effects on Muscle Function and Bone Health in Patients with Dystrophinopathy
aUniversity of Minnesota Masonic Children’s Hospital, Minneapolis, MN, USA; bDepartment of Pediatrics, University of Minnesota, Minneapolis, MN, USA; cDivision of Pediatric Endocrinology and Metabolism, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, USA; dDepartment of Neurology, University of Minnesota, Minneapolis, MN, USA; eDepartment of Physical Medicine & Rehabilitation, University of Minnesota, Minneapolis, MN, USA; fDivision of Biostatistics, University of Minnesota, Minneapolis, MN, USA
hrp0086p1-p108
Nonsense Mutation in SPARC Gene Causing Autosomal Recessive Ostegenesis Imperfecta
aPediatric Endocrinology, Marmara University, Istanbul, Turkey; bMedical Genetics, Marmara University, Istanbul, Turkey; cAdvanced Genomics and Bioinformatics Research Center TUBITAK-BILGEM-UEKAE, Kocaeli, Turkey; dDepartment of Pediatrics, School of Medicine, Acibadem University, Istanbul, Turkey; eMedical Genetics, Hacettepe University, Istanbul, Turkey
hrp0086p1-p109
Increase in Sclerostin After Rapid Weight Loss in Children
aDepartment of Pediatrics, Aarhus University Hospital, Aarhus, Denmark; bMedical Research Laboratory, Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark; cDepartment of Medicine V, Aarhus University Hospital, Aarhus, Denmark
hrp0086p1-p110
Impact of Conventional Medical Treatment on Bone Mineral Density and Bone Turnover in Adult XLH Patients: A 6 Year Cohort Study
aDepartment of Clinical Endocrinology, Odense University Hospital, Odense, Denmark; bH.C. Andersen Children’s Hospital, Odense, Denmark; cInstitute of Clinical Research, University of Southern Denmark, Odense, Denmark
hrp0086p1-p111
Bone Health and Body Composition in Childhood Onset Growth Hormone Deficiency at Time of Initial Evaluation and Retesting
Developmental Endocrinology Research Group, School of Medicine, Royal Hospital for Children, University of Glasgow, Glasgow, UK
hrp0086p1-p112
Extension of The Bone Health Index to Adults, and Reference Curves of Four Indices of Cortical Bone for Healthy Europeans
aTübingen University Children’s Hospital and Filderklinik, Tübingen, Germany; bVisiana, Holt, Denmark
hrp0086p1-p113
Extension of Automated Bone Age Determination to the End of Puberty
aUniversity Children’s Hospital and Filderklinik, Tübingen, Germany; bVisiana, Holt, Denmark
hrp0086p1-p114
A European Survey to Identify New Roads for Care, Training and Research Around Rare Metabolic Bone Diseases
aAPHP, Plateforme Expertise Maladies Rares Paris sud, Le Kremlin Bicêtre, France; bDevelopmental Endocrinology Research Group, University of Glasgow, Glasgow, UK; cHospital Infantil Universitario Niño Jesús, Universidad Autónoma de Madrid, Madrid, Spain; dUniversity of Florence, Florence, Italy; eInstitute of Child Health, Athens, Greece; fUniversity of Vienna, Vienna, Austria; gDepartment of Endocrinology and Diabetes, Birmingham Children’s Hospital, Birmingham, UK; hSankt-Petersburg State Pediatric Medical University, San Petersburg, Russia; iChildren’s Hospital, University of Helsinki, Helsinki, Finland; jDepartment of Women’s and Children’s Health, Karolinska Institutet and University Hospital, Stockholm, Sweden; kCharité, Pediatric Endocrinology, University Medicine, Berlin, Germany; lDepartment of Pediatrics, University Hospital Motol, Prague, Czech Republic; mChildren’s Clinic of Tartu University Hospital, Tartu, Estonia; nDepartment of Pediatric Endocrinology, Marmara University, Istanbul, Turkey; oErasmus MC, Rotterdam, The Netherlands, pUniversity of Sheffield and Sheffield Children’s Hospital, Sheffield, UK
hrp0086p1-p115
No Severe Hypercalcemia During a 12-Month High-Dose Vitamin D Intervention in Infants
aChildrens Hospital, University of Helsinki, Helsinki, Finland; bHelsinki University Hospital, Helsinki, Finland
hrp0086p1-p117
Management of Tracheobronchomalacia During Asfotase Alfa Treatment in Infants with Perinatal-onset Hypophosphatasia: A Case Series
aCentral Manchester University Hospitals NHS Foundation Trust Hospital, Manchester, UK; bCincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA; cUniversity of Cincinnati College of Medicine, Cincinnati, OH, USA; dGreat Ormond Street Hospital, London, UK
hrp0086p1-p118
Novel p.Asn628Ser Heterozygous Mutation in FGFR1 is Associated with Hartsfield Syndrome and Tumoral Calcinosis
aBristol Royal Hospital for Children, Bristol, UK; bRoyal Devon & Exeter Hospital, Exeter, UK
hrp0086p1-p119
Practicalities of Bisphosphonate use in UK Paediatric Tertiary Centres
aAlder Hey Children’s Hospital, Liverpool, UK; bBristol Royal Hospital for Children, Bristol, UK
hrp0086p1-p120
Computer-assisted Diagnosis of Dyschondrosteosis Based on Skeletal X-ray Geometry
aPediatric Endocrinology, AP-HP, Hôpitaux Universitaires Paris Sud, Bicêtre, France; bEpidemiology INSERM, St Antoine, France
hrp0086p1-p121
Bisphosphonates Therapy in Girls with Rett Syndrome and Bone Fragility
aAPHP, CMR Calcium-Phosphore, Bicêtre Paris Sud, France; bAPHP, La Pitié Salpétrière, Paris, France; cAPHP and Rett Center, Necker-Enfants Malades, Paris, France
hrp0086p1-p122
Skeletal Manifestations in APECED
aUniversity Hospital and University of Helsinki, Helsinki, Finland; bFolkhälsan Research Center, Helsinki, Finland
hrp0086p1-p123
Two French Families with Vitamin D Dependency Rickets Type 1B Harbor Homozygous Recessive Expression Of CYP2R1 Mutations L99P and G42_L46DEL INSR
aCHU de Caen – Department of Genetics, Caen, France; bCHU de Nancy – Department Pediatrics, Nancy, France; cQueen’s University, Kingston, Canada
hrp0086p1-p124
Spectrum of the Genetic Defects in Hypophosphatemic Rickets in A Group of Turkish Children
aDokuz Eylul University, Izmir, Turkey; bKing Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia; cIzmir Katip Celebi University, Izmir, Turkey
hrp0086p1-p125
Impact of Intercurrent Illness on Calcium Homeostasis and Hypoparathyroidism Management
aDepartment of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester, UK; bPaediatric Endocrinology, King Saud University & King Saud University Medical City, Riyadh, Saudi Arabia
hrp0086p1-p126
Transient Pseudohypoaldosteronism and Failiure to Thrive in A 5-Month-Old Infant
Ewha Womans University School of Medicine, Seoul, Republic of Korea
hrp0086p1-p127
Childhood Cancer Survivors (CCS) are at High Risk of Reduced Bone Mass During the Second Decade of Life
aUniversity of Genoa, Genoa, Italy; bDepartment of Clinical and Experimental Endocrinology, “Giannina Gaslini” Institute, Genoa, Italy; cDepartment of Hematology, Oncology and Bone Marrow Transplantation, “Giannina Gaslini” Institute, Genoa, Italy; dEpidemiology, Biostatistics and Committees Unit, “Giannina Gaslini” Institute, Genoa, Italy; eGreat Ormond Street Hospital, Pediatric and Neonatal Department, London, UK
hrp0086p1-p128
Trabecular Bone Score in Children from Mexico City: Preliminary Report
aUnidad de Epidemiología Clínica, Hospital Infantil de México, Mexico City, Mexico; bHospital de Especialidades, Centro México Nacional Siglo XXI, Mexico City, Mexico; cFacultad de Medicina, UNAM, Mexico City, Mexico; dMedImaps, Pessac, France
hrp0086p1-p129
Triple X Syndrome: An Evaluation of Bone Mineral Status and Metabolism
aHealth Science Department, University of Florence, Anna Meyer Children’s University Hospital, Florence, Italy; bDepartment of Health Sciences, University of Florence, Careggi Hospital, Florence, Italy; cDepartment of Paediatrics, Universty of Chieti, Chieti, Italy; dDepartment of Paediatrics, University of L’Aquila, L’Aquila, Italy; eGenetics and Molecular Medicine Unit, Anna Meyer Children’s University Hospital, Florence, Italy; fPaediatric Unit, Empoli Hospital, Empoli, Italy
hrp0086p1-p130
Frequency of Recessive Osteogenesis Imperfecta in a Turkish Cohort and Genetic Causes
aPediatric Endocrinology, Marmara University, School of Medicine, Istanbul, Turkey; bMedical Genetics, Marmara University, School of Medicine, Istanbul, Turkey; cAdvanced Genomics and Bioinformatics Research Center TUBITAK-BILGEM-UEKAE, Kocaeli, Turkey; dMedical Genetics, Hacettepe University, School of Medicine, Ankara, Turkey
hrp0086p1-p131
Low Bone Mineral Density in Adolescents with Leukemia After Hematopoietic Stem Cell Transplantation
Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea
hrp0086p1-p135
Growth Characteristics of a Girl with Multicentric Carpo-Tarsal Osteolysis Caused by Novel Mutation in the MAFB Gene
aDepartment of Paediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic; bAmbulant Centre for Defects of Locomotor Apparatus, Prague, Czech Republic
hrp0086p1-p136
Treatment Experience and Long-Term Follow-Up Data in Two Severe Neonatal Hyperparathyroidism Cases
aDr. Sami Ulus Obstetrics and Gynecology, Children’s Health and Disease Training and Research Hospital, Ankara, Turkey; bPediatrie Medicale Hopital de la mere et de I’enfant, Limoges, France; cLaboratoire de Biochimie Genetique Moleculaire, Limoges, France
hrp0086p1-p137
Dental Effects of Intravenous Bisphosphonate When Administered in Early Infancy
aRoyal Children’s Hospital, Melbourne, Victoria, Australia; bMurdoch Children’s Research Institute, Melbourne, Victoria, Australia
hrp0086p1-p139
Bone Mass and Vitamin D Status in Children and Adolescents with Generalized Epidermolysis Bullosa
aUniversity of Brasilia School of Medicine, Brasilia, DF, Brazil; bLaboratory of Chronic and Degenerative Diseases, University of Brasilia School of Medicine, Brasilia, DF, Brazil; cPostgraduate Program, University of Brasilia School of Health Sciences, Brasilia, DF, Brazil
hrp0086p1-p140
Impact of Anti-Tumour Necrosis Factor Therapy on the Insulin Like Growth Factor Axis and Bone Development in Childhood Crohn's Disease
aDevelopmental Endocrinology Research Group, Royal Hospital for Children, Glasgow, UK; bDepartment of Paediatric Gastroenterology, Royal Hospital for Children, Glasgow, UK; cSidra Medical and Research Centre, Doha, Qatar
hrp0086p1-p143
Effects of Phylloquinone and Magnesium on ATDC5 Prechondrocytes
aDepartment of Pediatrics and Adolescent Medicine, Medical University Vienna, 1090, Vienna, Austria; bInstitute of Anatomy, Histology & Embryology, Department of Pathobiology, University of Veterinary Medicine, Vienna, Austria
hrp0086p1-p144
To Study the Efficacy and Safety of Growth Hormone (GH) Therapy in Children with Pycnodysostosis
aRoyal Manchester Children’s Hospital, Central Manchester University Hospital NHS Trust, Manchester, UK; bDepartment of Paediatric Endocrinology and Diabetes, Nottingham Children’s Hospital, Nottingham, UK
hrp0086p1-p145