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54th Annual ESPE

Barcelona, Spain
01 Oct 2015 - 03 Oct 2015

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Barcelona, Spain; 1-3 October 2015 Further information

Poster Presentations Poster Category 1

DSD

Immunohistochemical Detection of Estrogen [alpha] and Androgen Receptors in Genital Tissues in Girls with Congenital Adrenal Hyperplasia
aEndocrinology Research Center, Moscow, Russia; bLomonosov Moscow State University, Moscow, Russia; cScientific Centre of Children Health, Moscow, Russia
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Attitudes of Parents of Klinefelter Boys and Flemish Paediatricians Towards Neonatal Screening and Fertility Preservation Techniques in Klinefelter Syndrome
aUZ Brussel, Division of Pediatric Endocrinology, Brussels, Belgium; bResearch Group Biology of the Testis, Department of Embryology and Genetics, Vrije Universiteit Brussel, Brussels, Belgium; cUZ Brussel, Centre for Reproductive Medicine, Brussels, Belgium
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Long-term Endocrine Outcome in Men with Partial Androgen Insensitivity Syndrome
aUniversity of Glasgow, Glasgow, UK; bUniversity Hospital Pisa, Pisa, Italy; cUniversity of Copenhagen, Copenhagen, Denmark; dUniversity of Luebeck, Luebeck, Germany; eUniversity Hospital Schleswig-Holstein, Kiel, Germany; fUniversity Hospital Ghent, Ghent, Belgium; gTel Aviv University, Tel Aviv, Israel; hErasmus MC Sophia Children’s Hospital, Rotterdam, The Netherlands; iMarmara University, Istanbul, Turkey; jIstanbul University, Istanbul, Turkey; kKarolinska Institutet, Stockholm, Sweden; lUniversity of Cambridge, Cambridge, UK
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Novel Genetic Associations in Children with Disorders of Sex Development and Neurodevelopment Disorders - Insights from the Deciphering Developmental Disorders study
aWest of Scotland Regional Genetics Service, Laboratory Medicine Building, Southern General Hospital, Glasgow, UK; bWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK; cSchool of Medicine, College of Medical Veterinary and Life Sciences, University of Glasgow, Glasgow, UK; dDevelopmental Endocrinology Research Group, Royal Hospital For Sick Children, University of Glasgow, Glasgow, UK
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Current Models of Practice & Professional Development of Clinicians in DSD Centres - Results from an International Survey of Specialist Care for DSD
aDevelopmental Endocrinology Research Group, University of Glasgow, Glasgow, UK; bDepartment of Child and Adolescent Psychiatry, Erasmus MC – Sophia Children’s Hospital, Rotterdam, The Netherlands; cDepartment of Neuropsychiatry and Psychosomatic Medicine, Division of Surgery and Clinical Neuroscience, Oslo University Hospital, Oslo, Norway; dDepartment of Pediatrics and Medical Genetics, Medical University of Varna, Varna, Bulgaria; eDepartment of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark; fDepartment of Medical Genetics, Poznan University of Medical Science, Poznan, Poland; gPaediatric Surgery, Astrid Lindgren Children Hospital, Karolinska University Hospital, Stockholm, Sweden; hGrApSIA (Grupo de Apoyo al Síndrome de Insensibilidad a los Andrógenos), Barcelona, Spain; iAlder Hey Children’s Hospital NHS Trust and University of Central Lancashire, Liverpool, UK; jDivision of Experimental Paediatric Endocrinology and Diabetes, University of Lübeck, Lübeck, Germany
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Prediction of Germ Cell Cancer Occurrence in Postpubertal Individuals with Androgen Insensitivity Based on Pathological Findings and Cancer Predisposition SNPs
aGhent University, Ghent, Belgium; bGhent University Hospital, Ghent, Belgium; cSophia Children’s Hospital, Rotterdam, The Netherlands; dErasmus Medical Center, Rotterdam, The Netherlands; eJosephine Nefkens Institute, Rotterdam, The Netherlands; fCharles University and University Hospital Motol, Prague, Czech Republic; gFaculdade de Medicina, Universidade de Sao Paulo, Hospitals Clinicas, Sao Paolo, Brazil; hUniversitätsklinikum Schleswig-Holstein and Universität zu Lübeck, Lübeck, Germany; iIndiana University, Indianapolis, Indianapolis, USA; jClinical & Experimental Medicine University of Birmingham, Birmingham, UK
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MAMLD1 Mutations Seem Not Sufficient to Explain a 46, XY DSD Phenotype. What else?
aPediatric Endocrinology and Diabetology, Department of Pediatrics and Department of Clinical Research, University Children’s Hospital Bern, Bern, Switzerland; bPediatric Endocrinology Research Unit, CIBERER (Center for Biomedical Research on Rare, Barcelona, VHIR (Vall d’Hebron Institut de Recerca), Universitat Autònoma de Barcelona, Hospital Universitari Vall d’Hebron, Spain; cPediatric Endocrinology, Hospital Infantil La Fe, Valencia, Spain; dPediatric Endocrinology, Hospital La Paz, Madrid, Spain; ePediatric Endocrinology, Hospital Materno-Infantil, Málaga, Spain; fPediatric Endocrinology, Corporació Parc Taulí, Hospital de Sabadell, Sabadell, Spain; gPediatric Endocrinology, Hospital Virgen Macarena, Sevilla, Spain; hPediatric Urology, Hospital Germans Trias-Pujol, Badalona, Spain
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Subcutaneous Continuous Administration of Recombinant Human Luteinizing and Follicle-Stimulating Hormones is an Effective Treatment for Micropenis During the Mini-Puberty
aEndocrinologie, Gynécologie et Diabétologie Pédiatriques, Hôpital Universitaire Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; bCentre des Maladies Endocriniennes Rares de la Croissance, Hôpital Universitaire Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; cExplorations Fonctionnelles, Hôpital Universitaire Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; dBiochimie et Hormonologie, Hôpital Universitaire Robert Debré, Assistance Publique-Hôpitaux de Paris, Paris, France; eRadiologie Pédiatrique, Hôpital Universitaire Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; fINSERM U1016, IMAGINE Institute, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
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46, XX Ovotesticular DSD in the Absence of SRY Gene Associated to SOX3 Duplication
aCentro de Investigaciones Endocrinológicas Dr César Bergadá (CEDIE), CONICET-FEI-Division Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina; bÁrea de Genómica Estructural y Funcional Responsable de Calidad INGEMM – Instituto de Genética Médica y Molecular/Hospital Universitario La Paz, Madrid, Spain
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