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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

Rapid Free Communications

Bone, Growth Plate & Mineral Metabolism 2

Diagnosis and Management of Pseudohypoparathyroidism and Related Disorders: First International Consensus Statement
aFondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Endocrinology Unit, Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy; bEndocrine Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA; cImprinting and Cancer group, Cancer Epigenetic and Biology Program (PEBC), Institut d’Investigació Biomedica de Bellvitge (IDIBELL), Barecelona, Spain; dPediatric Endocrinology Unit, Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy; eDivision of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University of Lübeck, Lübeck, Germany; fAPHP, Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Platform of Expertise Paris-Sud for Rare Diseases and Filière OSCAR; APHP, Endocrinology and Diabetes for Children, Bicêtre Paris-Sud Hospital, Le Kremlin-Bicêtre, France; gDevelopmental Endocrinology Research Group, School of Medicine, Dentistry and Nursing Studies, University of Glasgow, Glasgow, UK; hIPOHA, Italian Progressive Osseous Heteroplasia Association, Cerignola, Foggia, Italy; iK20, French PHP and Related Disorders Patient Association, Jouars Pontchartrain, France; jAPHP, Department of Medicine for Adolescents, Bicêtre Paris Sud Hospital, Le Kremlin-Bicêtre, France; kInsitute of Human Genetics, Technical University of Aachen, Aachen, Germany; lDepartment of Cardiovascular Sciences, Center for Molecular and Vascular Biology, Gasthuisberg, Leuven, Belgium; mAEPHP, Spanish PHP and Related Disorders Patient Association, Huércal-Overa, Almeriá, Spain; nAlbright Center & Center for Rare Bone Disorders, Division of Pediatric Endocrinology & Diabetes, Connecticut Children’s Medical Center and Department of Pediatrics, University of Connecticut School of Medicine, Framington, Connecticut, USA; oAPHP, Department of Endocrinology, Cochin Hospital, Université Paris Descartes, Sorbonne Paris Cité, Paris, France; pDepartment of Medicine, Division of Endocrinology & Centre for Bone Quality, Leiden University Medical Center, Leiden, Netherlands; qINSERM U1169, Bicêtre Paris Sud, Université Paris Sud Paris Saclay, Le Kremlin-Bicêtre, France; rAPHP, Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Platform of Expertise Paris-Sud for Rare Diseases and Filière OSCAR; APHP, Department of Endocrinology and Reproductive Diseases, Bicêtre Paris Sud Hospital; INSERM U1185, Bicêtre Paris Sud, Université Paris Sud Paris Saclay, Le Kremlin-Bicêtre, France; sUK Acrodysostosis Patients’ Group, London, UK; tDepartment of Genetics, Caen University Hospital, Caen, France; uAPHP, Department of Odontology, Bretonneau Hospital PNVS, Paris; Faculty of Dentistry, Paris Descartes University, Montrouge, France; vDepartment of Endocrinology and Nutrition, La Paz University Hospital, Madrid, Spain; wDepartment of Pediatrics, Division of Endocrinology and Diabetes and Center for Bone Health, Children’s Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA; xUniversity of Helsinki and Helsinki University Hospital, Children’s Hospital, Helsinki, Finland; yLaboratório de Metabolismo e Endocrinologia do Departamento de Fisiologia e Biofísica do Instituto de Ciências Biomédicas da Universidade de São Paulo (ICB-USP), São Paulo, Brazil; zDepartment of Endocrinology, Hospital Infantil Universitario Niño Jesús, IIS La Princesa, Department of Pediatrics, Universidad Autónoma de Madrid. CIBERobn, ISCIII, Madrid, Spain; aaDivision of Endocrinology, Chiba Children’s Hospital, Chiba, Japan; abDepartment of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester University NHS Foundation Trust, Manchaster, UK; acMolecular (Epi)Genetics Laboratory, BioAraba National Health Institute, Hospital Universitario Araba-Txagorritxu, Vitoria-Gasteiz, Spain; adDepartment of Medicine, Mayo Clinic, Rochester, New York, USA; aeDepartment of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark; afDepartment of Endocrinology and Diabetes, Birmingham Children’s Hospital, Birmingham, UK; agPediatric Endocrinology and Diabetes, Vanderbilt University Medical Center, Nashville, Tennessee, USA; ahDepartments of Orthopaedic Surgery and Genetics, Center for Research in FOP and Related Disorders, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA; aiAPHP, Service de Biochimie et Génétique Moléculaires, Hôpital Cochin, Paris, France; ajDepartment of Pediatrics, Division of Endocrinology and Diabetes, Marmara University, Istanbul, Turkey; akUK Acrodysostosis Patients’ Group, London, UK; alDepartment of Internal Medicine, Bone Center Erasmus MC - University Medical Center Rotterdam, Rotterdam, Netherlands
Nationwide Hypophosphatemic Rickets Study
aDepartment of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey; bMarmara University, Istanbul, Turkey; cDokuz Eylül University, İzmir, Turkey; dIstanbul University, Istanbul, Turkey; eSBU Gazi Yasargil Education and Research Hospital, Diyarbakır, Turkey; fSamsun Ondokuz Mayıs University, Samsun, Turkey; gUludağ University, Bursa, Turkey; hErciyes University, Kayseri, Turkey; iKonya Education and Research Hospital, Konya, Turkey; jSami Ulus Children Hospital, Ankara, Turkey; kNecmettin Erbakan University, Konya, Turkey; lAnkara Child Health and Haematology Oncology Hospital, Ankara, Turkey; mKartal Dr Lufi Kırdar Hospital, Istanbul, Turkey; nEge University, İzmir, Turkey; oSBU Adana Numune Hospital, Adana, Turkey; pDicle University, Diyarbakır, Turkey; qFırat University, Elazığ, Turkey; rDiyarbakır Children Hospital, Diyarbakır, Turkey; sGülhane Education and Research Hospital, Ankara, Turkey; tErzurum Regional Education and Research Hospital, Erzurum, Turkey; uTrakya University, Edirne, Turkey; vEskisehir Osman Gazi University, Eskisehir, Turkey; wAydın Adnan Menderes University, Aydın, Turkey; xKatip Çelebi University, İzmir, Turkey
Increased Levels of Bone Formation and Resorption Markers in Patients with Hypophosphatemic Rickets
aDepartment of Endocrinology, Odense University Hospital, Odense, Denmark; bInstitute of Clinical Research, University of Southern Denmark, Odense, Denmark; cDepartment of Clinical Biochemistry, Rigshospitalet, Glostrup, Denmark; dOPEN, Odense Patient data Explorative Network, Odense University Hospital/Institute of Clinical Research, University of Southern Denmark, Odense, Denmark; eDepartment of Pediatrics, Kolding Hospital at Lillebaelt Hospital, Kolding, Denmark; fInstitute of Regional Health Research, University of Southern Denmark, Odense, Denmark
A New Form of Anhidrotic Ectodermal Dysplasia with Immunodeficiency Caused By Abolished Store-Operated Ca2+ Entry
aUniversity Hospital Centre Zagreb, Zagreb, Croatia; bUniversity of Zagreb School of Medicine, Zagreb, Croatia; cNew York University School of Medicine, New York, New York, USA; dThe Jackson Laboratory for Genomic Medicine, Framington, USA; eINSERM UMR Laboratory of the Immunogenetics of Pediatric Autoimune Diseases, Paris, France; fINSERM UMR Imagine Institute Paris Descartes-Sorbonne Paris Cite University, Paris, France; gThe Study Center for Primary Immunodeficiencies, Necker-Enfants Malades Hospital, Necker Medical School, Paris, France; hSchulic School of Medicine and Dentistry, Western University London, London, UK; iImmunoGenes, Budapest, Hungary; jCenter for Pediatrics, University of Freiburg, Freiburg, Germany; kCenter for Chronic Immunodeficiency, Medical Centre, University of Freiburg, Freiburg, Germany; lDalhousie University, Halifax, New Scotia, Canada
The Determinants of Skeletal Fragility in Children with Type 1 Diabetes Mellitus
aDevelopmental Endocrinology Research Group, School of Medicine, University of Glasgow, Royal Hospital for Children, Glasgow, UK; bPaediatric Diabetes Service, NHS Greater Glasgow & Clyde, Glasgow, UK; cDepartment of Clinical Biochemistry, Royal Hospital for Children, NHS Greater Glasgow and Clyde, Glasgow, UK; dDepartment of Clinical Physics and Bioengineering, NHS Greater Glasgow & Clyde and University of Glasgow, Glasgow, UK