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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 Category 2

DSD

Multiple Malformations Extending the Phenotypic Spectrum of Antley-Bixler Syndrome in a Patient with P450 Oxidoreductase Deficiency due to Two Novel Mutations of the POR Gene
aLondon Centre for Pediatric Endocrinology, Great Ormond Street Hospital for Children, London, UK; bMedical Faculty Skopje, University Children’s Hospital, Skopje, Macedonia; cCentre for Endocrinology, Diabetes and Metabolism, University of Birmingham, Birmingham, UK; dDepartment of Genetics, Great Ormond Street Hospital for Children, London, UK; eDevelopmental Endocrinology Research Group, UCL Institute of Child Health, London, UK
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A Novel Homozygous Missense Mutation in RSPO1 Associated with a Familial Case of 46,XX Testicular and Ovotesticular DSD
aInstitut Pasteur, Casablanca, Morocco; bHôpital d’enfants CHU Ibn Rochd, Casablanca, Morocco; cInstitut Pasteur, Paris, France
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Two Testes and 2X Chromosomes: Why?
aAmiri Hospital, Kuwait City, Kuwait; bHospital for Sick Children, Toronto, Ontario, Canada
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Diagnostic Approach to a Newborn with Suspected DSD: Results From an International Survey of Specialist Care for DSD
aDevelopmental Endocrinology Research Group, Royal Hospital For Sick Children, 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, 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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MAP3K1 Mutation in a Patient with Complete XY Gonadal Dysgenesis
aInsitute of Experimental Paediatric Endocrinology, Charité Universitätsmedizin, Berlin, Germany; bDepartment of Gynaecology, Charite Universitätsmedizin, Berlin, Germany; cDepartment of Paediatric Endocrinology, Diabetes and Obesity, Charite Universitätsmedizin, Berlin, Germany; dHuman Developmental Genetics, Institut Pasteur, Paris, France
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Management of Gonads in Adults with Androgen Insensitivity: An International Survey
aUZ Ghent, Ghent, Belgium; bErasmus Medical Center Rotterdam, Rotterdam, The Netherlands
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The Localisation of Cells with XX and XY in Gonadal Tissues Associated with Ovotesticular Disorder of Sexual Development with a 46,XX/46,XY Karyotype
aDepartment of Pediatrics, Tama-Hokubu Medical Center, Higashimurayama, Tokyo, Japan; bDivision of Endocrinology and Metabolism, Department of Pediatrics, Tokyo Metropolitan Children’s Medical Center, Fuchu, Tokyo, Japan; cDepartment of Pathology, Tokyo Metropolitan Children’s Medical Center, Fuchu, Tokyo, Japan; dDepartment of Pediatrics, Keio University School of Medicine, Shinjuku, Tokyo, Japan
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Birth Weight in Different Aetiologies of Disorder of Sex Development
aIstanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey; bUniversity of Glasgow, Glasgow, UK; cUniversity of Lübeck, Lübeck, Germany; dErasmus MC Sophia Children’s Hospital, Rotterdam, The Netherlands; eUniversity Hospital Pisa, Pisa, Italy; fInstitute of Endocrinology, Prague, Czech Republic; gMarmara University, Istanbul, Turkey; hUniversity of Cambridge, Cambridge, UK; iUniversity Hospital Ghent, Ghent, Belgium; jUniversity Claude Bernard Lyon 1, Lyon, France; kRadboudumc Amalia Children’s Hospital, Radboud University Medical Center, Nijmegen, The Netherlands; lKarolinska Institute, Stocholm, Sweden; mUniversity Hospital Schleswig-Holstein, Kiel, Germany; nUniversity Children’s Hospital, Charite, Humboldt University, Berlin, Germany; oPoznan University of Medical Sciences, Poznan, Poland; pCenter for Endocrinology, Diabetes and Metabolism, University of Birmingham, Birmingham, UK
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A Novel Human CYP19A1 Deletion-Insertion Mutation Reveals that the C-terminus of the Aromatase Protein is Crucial for its Activity
aDepartment of paediatrics, Bab El Oued Teaching Hospital, Algiers, Algeria; bDepartment of Pediatrics, Division of Pediatric Endocrinology, Diabetology and Metabolism and Department of Clinical Research, University of Bern, Bern, Switzerland; cEPH gué de Constantine, Algiers, Algeria
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Pubertal Virilization in Two Unrelated XY Teenagers with Female Phenotype due to NR5A1/SF-1 Gene Mutation
aCHRU and Université de Montpellier, Montpellier, France; bCHU and Université de Nice-Sophia Antipolis, Nice, France; cCHRU and Université de Lille, Lille, France; dCHRU de Montpellier, Montpellier, France; eInstitut de Génétique Humaine – CNRS UPR1142, Montpellier, France
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Chimerism in a Teenager with Ovotesticular Disorder of Sexual Development
aPediatric Endocrinology, Diabetology and Obesity, Department of Pediatrics, University Hospital (CHUV), Lausanne, Switzerland; bPediatric Surgery, Department of Pediatrics, University Hospital (CHUV), Lausanne, Switzerland; cChild Psychiatry, Department of Psychiatry, University Hospital (CHUV), Lausanne, Switzerland; dDepartment of Medical Imaging, University Hospital (CHUV), Lausanne, Switzerland; eEndocrinology, Diabetes and Metabolism, Department of Internal Medicine, University Hospital (CHUV), Lausanne, Switzerland
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Partial Androgen Insensitivity: Syndrome or Symptoms?
aDépartement d’Endocrinologie Pédiatrique, Hospital of Montpellier, Montpellier, France; bDépartement d’Hormonologie, Hospital of Montpellier, Montpellier, France; cDépartement de Chirurgie Viscérale Pédiatrique, Hospital of Montpellier, Montpellier, France; dDépartement de Médecine Nucléaire, Hospital of Montpellier, Montpellier, France
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Next-Generation Sequencing as a Rapid Molecular Diagnosis in Patients with 46,XY Disorder of Sex Development
aDepartment of Pediatric Endocrinology, Ege University School Medicine, Izmir, Turkey; bDepartment of Medical Genetics, Ege University School Medicine, Izmir, Turkey; cDepartment of Pediatric Genetics, Ege University School Medicine, Izmir, Turkey
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When, if Ever, Should the Mullerian Remnants be Removed from Subjects with Mixed Gonadal Dysgenesis Raised as Males?
aPediatric Endocrinology and Diabetes Unit, Dana-Dwek Children’s Hospital, Tel Aviv, Israel; bSackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
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The Evaluation of AR and SRD5A2 Gene Mutations in 87 Patients with 46, XY DSD Children in Turkey
aDepartment of Paediatrics, Pediatric Endocrinology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey; bDepartment of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey; cDepartment of Paediatrics, Paediatric Endocrinology, Faculty of Medicine, Near East University, Istanbul, Turkey.
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Familial Mutation of NR5A1/SF-1 Gene Associated with DSD and Spleen Agenesis: A New Syndrome?
aCHRU and Université de Montpellier, Montpellier, France; bInstitut de Génétique Humaine – CNRS UPR1142, Montpellier, France; cCHRU de Montpellier, Montpellier, France; dCHRU and Université de Lille, Lille, France
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Clinical Spectrum of 45,X/46,XY Mosaicism and Variants in Children
aSeoul National University College of Medicine, Seoul, Republic of Korea; bKangwon National University Hospital, Chuncheon, Republic of Korea; cKonyang University Hospital, Daejeon, Republic of Korea
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Chromosomal Variations in Children and Adolescents with Gender Dysphoria: Is Routine Karyotyping Indicated?
aUK National Gender Identity Development Service, London and Leeds, UK; bUniversity College London Hospital, London, UK; cLeeds Children’s Hospital, Leeds, UK; dTavistock and Portman NHS Trust, London, UK
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Frequency of Cryptorchidism and Age at Operation in Helsinki Area between 2004 and 2014
aDepartment of Physiology, Faculty of Medicine, University of Helsinki, Helsinki, Finland; bChildren’s Hospital, Helsinki University Hospital, Helsinki, Finland
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Prevalence of Partial Androgen Insensitivity Syndrome in 3 Cohorts of 46,XY Children Presenting with Isolated Hypospadias, Isolated Micropenis or Isolated Persistent Pubertal Gynecomastia
aDépartement d’Endocrinologie Pédiatrique, Hospital of Montpellier, Montpellier, France; bDépartement d’Hormonologie, Hospital of Montpellier, Montpellier, France; cDépartement de Chirurgie Viscérale Pédiatrique, Hospital of Montpellier, Montpellier, France
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A Novel Mutation of Anti-Mullerian Hormone Receptor Gene in a Male with Persistent Mullerian Duct Syndrome
aPediatric Endocrine Unit, Ha’Emek Medical Center, Afula, Israel; bThe Rappaport Faculty of Medicine, Technion, Haifa, Israel; cPediatric Surgery Department, Ha’Emek Medical Center, Afula, Israel
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