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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
hrp0086p1-p688
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
hrp0086p1-p690
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
hrp0086p1-p691
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
hrp0086p1-p692
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
hrp0086p1-p693
Abstract unavailable
hrp0086p1-p694
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
hrp0086p1-p696
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
hrp0086p1-p697
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
hrp0086p1-p699