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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

Free Communications

Pituitary, neuroendocrinology and Puberty 1

Novel Variants in the POU1F1 Beta Isoform are Associated with Isolated Growth Hormone Deficiency and Combined Pituitary Hormone Deficiency
aDepartment of Paediatric Endocrinology, Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany; bDepartment of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA; cUnit of Developmental Endocrinology, Laboratory of Hormones and Molecular Genetics, University of São Paulo, São Paulo, Brazil; dInstitute of Human Genetics, University Hospital Leipzig, Leipzig, Germany; eDivision of Genetics Endocrinology, Cellular and Molecular Endocrinology Laboratory LIM25, Discipline of Endocrinology, Medicine College of University of São Paulo, São Paulo, Brazil; fDivision of Endocrinology, Boston Children’s Hospital and Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA; gDivision of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA; hDepartment of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA
Contribution of Functionally Assessed GHRHR Mutations to Idiopathic Isolated Growth Hormone Deficiency in a Cohort of 312 Unrelated Patients
aDépartement de Génétique, Sorbonne Université, INSERM UMR_S933, Hôpital Trousseau, AP-HP, Paris, France; bHôpital Lamine Debaghine, CHU Bab El Oued, Bab El Oued, Algeria; cHôtel Dieu de France, Endocrinologie et Diabétologie Pédiatrique, Beyrouth, Lebanon; dHôpital Necker, Service d’Endocrinologie Pédiatrique, Paris, France; eHôpital Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France; fCHU Paris Centre, Maternité Port Royal, Unité de Diagnostic Anténatal et Médecine fœtale, AP-HP, Paris, France; gHôpital Robert Debré, Service d’Endocrinologie pédiatrique, Paris, France; hHôpital de Bicêtre, Service d’Endocrinologie et des Maladies de la Reproduction et Centre des références des Maladies Rares de l’Hypophyse, Le Kremlin-Bicêtre, Paris, France; iUMR S1885, Faculté de Médecine Paris-Sud, Univ Paris Sud, Université Paris-Saclay, Le Kremlin-Bicêtre, Paris, France; jCHU d’Angers, Département d’endocrinologie, diabétologie et nutrition, Angers, France; kHôpital Universitaire des Enfants Reine Fabiola, Service d’Endocrinologie, Brussels, Belgium; lDar Attabib, Complexe Médical Multidisciplinaire, Endocrinologie, Sfax, Tunisia; mHealth Sciences University, Dr Sami Ulus Obstetrics and Gynecology, Children’s Health and Disease, Health Implementation and Research Center, Ankara, Turkey; nDépartement de Génétique et Institut Imagine, Paris Descartes-Sorbonne Paris Cité University, Hôpital Necker-Enfants Malades, APHP, Paris, France; oDepartment of Pediatric Endocrinology, Medical School of Ankara University, Ankara, Turkey
Mutations in MAGEL2 and L1CAM are Associated with Congenital Hypopituitarism and Arthrogryposis
aGenetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, London, UK; bDivision de Pediatria, Escuela de Medicina, Pontificia Universidad Catolica de Chile, Santiago, Chile
Neuroendocrine Morbidity after Paediatric Craniopharyngioma: a Longitudinal Single Centre Analysis of 93 Patients Over 30 Years
aUCL Great Ormond Street Institute of Child Health, Great Ormond Street, University College London, London WC1N 1EH, UK; bDepartment of Neuroendocrinology, Great Ormond Street Hospital NHS Trust, London WC1N 3JH, UK
National Multidisciplinary Decision-Making Guideline for Children and Young People (Idiopathic Thickened Pituitary Stalk and/or Idiopathic Central Diabetes Insipidus
aGreat Ormond Street Hospital, London, UK; bRoyal Devon and Exeter Hospital, Exeter, UK; cUniversity College London, London, UK; dUniversity of Manchester, Manchester, UK; eRoyal Manchester Children’s Hospital, Manchester, UK; fOxford University, Oxford, UK; gUniversity Hospitals Birmingham, Birmingham, UK; hQueen Mary University of London, London, UK;. iWatford General Hospital, Watford, UK; jUniversity Hospitals of Leicester, Leicester, UK; kCambridge University Hospitals, Cambridge, UK
National UK Guidelines for Screening, Multi-Disciplinary Team Management and Long-Term Follow-Up of Children and Young People (CYP) with Multiple Endocrine Neoplasia Type 1 (MEN1)
aDepartment of Paediatric Endocrinology, Bristol Royal Hospital for Children, University Hospitals Bristol Foundation Trust, Bristol, UK; bDepartment of Paediatric Endocrinology, Royal London Hospital, Barts Health NHS Trust, London, UK; cDepartment of Endocrinology, Dundee University, Dundee, UK; dDepartment of Endocrinology, University Hospitals Bristol Foundation Trust, Bristol, UK; eDepartment of Hepatobiliary Surgery, Freeman Hospital, Newcastle-Upon-Tyne, UK; fDepartment of Endocrine Surgery, Salford Royal NHS Foundation Trust, Salford, UK; gDepartment of Radiology, University Hospitals Bristol Foundation Trust, Bristol, UK; hNorth Middlesex Hospital, London, UK; iDepartment of Chemical Pathology, Oxford University Hospitals NHS Trust, Oxford, UK;. jDepartment of Clinical Genetics, Guy’s and St Thomas’ NHS Trust, London, UK; kDepartment of Paediatric Endocrinology, Great Ormond Street and University College Hospitals, London, UK; lRetired: Department of Endocrine Surgery, Royal Hallamshire Hospital, Sheffield, UK.