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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

Free Communications

Late Breaking

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of development
aCenter for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium; bDepartment of Pathology, Erasmus MC-University Medical Center Rotterdam, Rotterdam, The Netherlands; cFlanders Institute for Biotechnology (VIB), Department of Medical Protein Research, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium;
dMolecular Oncology and Pathology, Institut Jacques Monod, France; Université Paris Diderot, Paris, France; eDepartment of Pediatrics, Division of Pediatric Endocrinology, Ghent University Hospital and Ghent University, Ghent, Belgium
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Mutations in SGPL1, the Gene Encoding Sphingosine-1-Phosphate Lyase, Cause a Novel Form of Primary Adrenal Insufficiency with Steroid Resistant Nephrotic Syndrome
aCentre for Endocrinology, Queen Mary University of London, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, UK; bKULeuven, LIPIT, Leuven, Belgium; cDepartment of Genetics and Genomic Medicine, University College London Institute of Child Health, London, UK; dServicio de Nefrologia, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina; eCentro de Investigaciones Endocrinológicas (CEDIE, Dr. Cesar Bergadá; CONICET- FEI – Division de Endocrinologia, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina; fDepartment of Paediatric Endocrinology, Alder Hey Children’s Hospital, Liverpool, UK; gDepartment of Paediatric Endocrinology, Birmingham Children’s Hospital, Birmingham, UK; hBristol Children’s Renal Unit, Bristol Royal Hospital for Children, Bristol, UK; iDepartment of Pediatric Endocrinology and Diabetes, Health Sciences University, Suleymaniye Maternity and Children’s Training and Research Hospital, Istanbul, Turkey; jDepartment of Pediatric Endocrinology and Diabetes, Gulhane Military Medical School, Ankara, Turkey; kDepartment of Pediatric Endocrinology and Diabetes, Marmara University, Pendik Education and Research Hospital, Istanbul, Turkey; lSection of Endocrinology, Department of Medicine, Aga Khan University Hospital, Karachi, Pakistan
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Contribution of Next Generation Sequencing Approach for Management of Congenital Hypothyroidism with Eutopic Thyroid Gland
aLaboratoire de biochimie, IFB, Toulouse, France; bUniversité Paul Sabatier, Toulouse, France; cHopital des enfants, unité d’endocrinologie, Toulouse, France
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Vitamin D-Dependent Rickets Type 1 Caused by Mutations in CYP27B1 Affecting Protein Interactions with Adrenodoxin
aUniversity Children’s Hospital, Bern, Switzerland; bBoston
Children’s Hospital, Boston, Massachusetts, USA; cUniversity of Bern, Bern, Switzerland
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Effect of Conjugated Linoleic Acid and Metformin on Insulin Sensitivity, Measured by Euglycemic-Hyperinsulinemic Clamp Technique, in Children with obesity: A Randomized, Double-Blinded, Placebo-Controlled Trial
aGenetic Department Hospital General De Mexico, Mexico City, Mexico; bUniversidad Nacional Autonoma De Mexico, Mexico City, Mexico; cResearch Unit. Hospital General De Mexico, Mexico City, Mexico; dBasic Medical Sciences Department, TEC-ABC School of Medicine, Tecnológico de Monterrey., Mexico City, Mexico; eSouth Texas Diabetes and Obesity Institute University of Texas Rio Grande Valley, South Texas, Mexico
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Type 1 Diabetes Associated Serum Insulin-Like Growth Factor I (IGF-I) Reference Values in Children and Adolescents
aPediatric Department, Västervik Hospital, Västervik, Sweden; bPediatric Endocrinology and Diabetes Unit, Karolinska Institutet and University Hospital, Stockholm, Sweden; cDepartment of Growth and Reproduction, Copenhagen University and Rigshospitalet, Copenhagen, Denmark; dDivision of Pediatrics, Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden
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