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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

Endocrinology and Multisystemic Diseases P1

Thyrotoxicosis, Nephrogenic Syndrome of Inappropriate Antidiuresis, Tall Stature and Mental Retardation Caused by a Novel GNAS Gain of Function Mutation
aExplorations Fonctionnelles Endocriniennes, Hôpital Trousseau-APHP, Paris, France; bINSERM U938, Paris, France; cUniversity hospital and CMR Calcium-Phosphore, Normandy University, Caen, France; dService de Néphrologie Pédiatrique, Hôpital Trousseau APHP, Paris, France; eUniversity UMPC Paris VI, Paris, France; fExplorations Fonctionnelles, Hôpital Tenon APHP, Paris; France; gEndocrine Unit, Massachussetts General Hospital, Boston, MA, USA; hService de Biologie Moléculaire Hormonale, Hôpital Cochin APHP, Paris, France; iINSERM and APHP, CMR Calcium-Phosphore, Bicêtre Paris sud, Paris, France
Fludrocortisone: A Treatment for Tubulopathy Post Paediatric Renal Transplantation - A Scottish Study
aDepartment of Paediatric Nephrology, Royal Hospital for Children, Glasgow, UK; bDepartment of Paediatric Endocrinology, Royal Hospital for Children, Glasgow, UK
Neonatal Diabetes and Congenital Hypothyroidism, a Rare Condition: Report of 2 Cases with Different Genetic Causes
aPontificia Universidad Catolica De Chile, Santiago, Chile; bClinica Santa Maria, Santiago, Chile; cLaboratory of Molecular Genetics, University of Exeter Medical School, Exeter, UK; dClinica Universidad De Los Andes, Santiago, Chile
Access to Medicines in Pediatric Endocrinology and Diabetes in Africa: Insights from the WHO and National Lists of Essential Medicines
aBritish Columbia Children’s Hospital and University of British Columbia, Vancouver, British Columbia, Canada; bGlobal Pediatric Endocrinology and Diabetes (GPED), Vancouver, British Columbia, Canada; cPrincess Marina Hospital and University of Botswana, Gaborone, Botswana; dGertrudes Childrens Hospital, Nairobi, Kenya
Is it Cautious to Wait for Serum Basal Calcitonin Levels Rise in Patients with Ret Codon C634 Mutation?
aPediatric Endorcinolgy Unit, Hospital General Universitario Gregorio Marañón, Madrid, Spain; bAnathomopathology, Hospital General Universitario Gregorio Marañon, Madria, Spain
Abstract unavailable
Variable Phenotype and Genetic Findings in a Cohort of Patients with Pseudohypoparathyroidism
aEndocrinology Research Centre, Moscow, Russia; bI.M.Sechenov First Moscow State Medical University, Moscow, Russia; cResearch & Clinical Institute for Pediatrics n.a. acad. Y.E.Veltishev, Moscow, Russia
Contiguous Gene Syndrome Involving DAX1 Deletion with Congenital Adrenal Insufficiency
aDepartment of General Pediatrics, Neonatology and Pediatric Cardiology, University Children’s Hospital, Duesseldorf, Germany; bInstitute of Human Genomics, University Hospital, Duesseldorf, Germany; cHeidelberg University Hospital, Center for Child and Adolescent Medicine, Metabolism Center, Heidelberg, Germany; dKlinikum Leverkusen, Clinc for Child and Adolescent Medicine, Leverkusen, Germany
Role of PTPN22 C1858T Gene Polymorphism in Pediatric Polyautoimmunity
aEndocrinology Unit, Pediatrics Division, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile; bDepartment of Pediatric Infectious Diseases and Immunology and Millennium Institute on Immunology and Immunotherapy, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile