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57th Annual ESPE

Athens, Greece
27 Sep 2018 - 29 Sep 2018

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ESPE 2018 57th European Society for Paediatric Endocrinology Annual Meeting 27-29 September 2018 Athens, Greece

Poster Presentations

Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1

Insights in Promoter Transactivation of CBX2 Expression
Endocrinology Division, Section of Medicine, University of Fribourg, Fribourg, Switzerland
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In Silico and In vitro Studies of Human SRD5A2 Variants in Search for Activating Variants Explaining Androgen Excess Reveal Additional Loss of Function Variants
aDepartment of Pediatrics, Division of Endocrinology, Diabetology & Metabolism, Bern, Switzerland; bDepartment of Biomedical Research, Bern, Switzerland; cGraduate School of Bern, Bern, Switzerland
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SDgeneMatch, A New Tool to Aid the Identification of the Genetic Causes of DSD
aUMC Utrecht, Utrecht, Netherlands; bInstitut Pasteur, Paris, France; cUniversity of Ghent, Ghent, Netherlands; dUniversity of Sheffield, Sheffield, UK; eCentre of Reproductive Health, Edinburgh, UK; fRigshospitalet, Copenhagen, Denmark; gUniversity of Glasgow, Glasgow, UK; hErasmus Medical Centre, Rotterdam, Netherlands; iUCL, London, UK; jUniversity of Lubeck, Lubeck, Germany; kMRC Harwell, Harwell, UK
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Reduced Androgen Receptor Expression in Patients with 45,X/46,XY Mosaicism
aDepartment of Pediatrics, Division of Pediatric Endocrinology and Diabetes, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Kiel, Germany; bInstitute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Kiel, Germany; cInstitute of Biochemistry and Molecular Biology, University of Bonn, Bonn, Germany; dDepartment of Internal Medicine, Division III, Universitätsklinikum Bonn, Bonn, Germany; ePediatric Endocrinology Research Unit, VHIR (Vall d’Hebron Institut de Recerca), Hospital Universitari Vall d’Hebron, CIBERER (Center for Biomedical Research on Rare Diseases), Instituto de Salud Carlos III, Barcelona, Spain; fDepartment of Pediatrics, Division of Pediatric Endocrinology, University Luebeck, Luebeck, Germany
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Primary Gonadal Dysgenesis in Male 46,XY Patients with NR5A1 Variants Predominantly Affects Sertoli Cell Function
aDivision of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, University of Lübeck, Lübeck, Germany; bDivision of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany; cDepartment of Paediatric Surgery, University Hospital Lübeck, Lübeck, Germany
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Evaluation of Genetic Etiology in Patients with 46,XY Disorders of Sex Development: One Center Experience
aIstanbul Faculty of Medicine, Department of Medical Genetics, Istanbul, Turkey; bIstanbul Faculty of Medicine, Pediatric Endocrinology Unit, Istanbul, Turkey
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Pitfalls in the Diagnosis of An Infant with 46,XX DSD with Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase Deficiency - the Value of Simultaneous Genetic Analysis to the Diagnosis in DSD
aDepartment of Paediatric Endocrinology, Birmingham Women’s and Children’s Hospital NHS Foundation Trust, Birmingham, UK; bCentre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK; cInstitute of Metabolism and Systems Research, Medical School, Birmingham, UK; dWest Midlands Regional Genetic Service, Birmingham Women’s and Children’s Hospital NHS Foundation Trust, Birmingham, UK; eDepartment of Paediatric Urology, Birmingham Women’s and Children’s Hospital NHS Foundation Trust, Birmingham, UK; fAcademic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, Sheffield, UK
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A De Novo Missense Mutation in the 4th Zinc Finger of the WT1 Gene Causes 46,XY and 46,XX DSD in Two Sibs
aSemmelweis University, Budapest, Hungary; bUniversity of Szeged, Szeged, Hungary; cInsitut Pasteur, Paris, France
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Sex-Differences in Reproductive Hormones During Mini-Puberty in Infants with Normal and Disordered Sex Development
aDepartment of Growth and Reproduction, Rigshospitalet, University Hospital of Copenhagen; and International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark; bDepartment of Environmental Medicine, Institute of Public Health, University of Southern Denmark, Odense, Denmark; cHans Christian Andersen Children’s Hospital, Odense University Hospital, Odense, Denmark; dDepartment of Endocrinology, Odense University Hospital, Odense, Denmark; eDepartment of Biostatistics, University of Copenhagen, Copenhagen, Denmark
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The 'ExternalGenitaliaScore' to Describe External Genitalia in Male and Female Infants: A Europeanmulticenter Validation Study
aUniversity Hospital Ghent, Department of Pediatrics, Division of Pediatric Endocrinology, Ghent, Belgium; bMedical University of Vienna, Department of Pediatric Surgery, Vienna, Austria; cDepartment of Urology, Medical University Innsbruck, Innsbruck, Austria, Vienna, Austria; dUniversity Hospital Ghent, Department of Neonatology, Ghent, Belgium; eMedical University of Silesia, Department of Pediatrics and Pediatric Endocrinology, School of Medicine in Katowice, Katowice, Poland; fMedical University of Silesia, Department of Neonatology, School of Medicine in Katowice, Katowice, Poland; gUniversity Hospital Ghent, Department of Pediatrics, Ghent, Belgium; hUniversity of Messina, Department of Human Pathology of Adulthood and Childhood, Messina, Italy; iDepartment of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark; jInternational Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark; kCopenhagen University Hospital, Department of Growth and Reproduction at The Juliane Marie Centre, Rigshospitalet, Copenhagen, Denmark; lInternational Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark; mDepartment of Women’s and Children’s Health Karolinska Institutet and Department of Pediatric Endocrinology, Karolinska University Hospital Stockholm, Stockholm, Sweden; nUniversity of Bern, Department of Pediatrics, Inselspital, Division of Pediatric Endocrinology and Diabetology, Bern, Switzerland; oErasmus MC -- Sophia Children’s Hospital, Department of Pediatric Endocrinology, Rotterdam, The Netherlands; pLeiden University Medical Centre, Department of Paediatrics, Leiden, The Netherlands; qErasmus MC -- Sophia Children’s Hospital, Department of Pediatric Urology, Rotterdam, The Netherlands; rDevelopmental Endocrinology Research Group, University of Glasgow, Royal Hospital for Children, Glasgow, UK
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'You Can Put Ideas into Their Heads': Parental Concerns about Children's Participation in DSD Research
aUniversity Hospitals Bristol NHS Foundation Trust, Bristol, UK; bCentral Manchester Foundation Trust, Manchester, UK
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Testosterone Levels in Newborn Boys and Girls Related to Penile Length, Anogenital Distance (AGD) and External Genitalia Score (EGS)
aDepartment of Pediatric Endocrinology, Astrid Lindgren Children’s Hospital, Stockholm, Sweden; bClinical Laboratory, Karolinska University Hospital, Stockholm, Sweden
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Clinical Factors that Determine Surgical Outcome Following Hypospadias Repair
aDevelopmental Endocrinology Research Group, University of Glasgow, Glasgow, UK; bKing Abdulaziz Medical City, Riyadh, Saudi Arabia; cPaediatric Urology, Royal Hospital for Children, Glasgow, UK
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Prevalence of Hypogonadism in Prepubertal Boys with Cryptrochdism
Centro de Investigaciones Endocrinológicas ‘Dr. César Bergadá’ (CEDIE), Buenos Aires, Argentina
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Testicular Ultrasound Measurements to Stratify Pituitary-Gonadal Hormone References in a Cross-Sectional Norwegian Study of Male Puberty
aHormone Laboratory, Haukeland University Hospital, Bergen, Norway; bDepartment of Clinical Science, University of Bergen, Bergen, Norway; cDepartment of Paediatrics, Haukeland University Hospital, Bergen, Norway, Bergen, Norway; dDepartment of Clinical Science, Section of Paediatrics, University of Bergen, Bergen, Norway; eDepartment of Paediatrics, Haukeland University Hospital, Bergen, Norway; fLaboratory of Anthropogenetics, Vrije Universiteit, Brussels, Belgium; hDepartment of Public Health and Primary Health Care, Research Group for Lifestyle Epidemiology, University of Bergen, Bergen, Norway; iKG Jebsen Center for Diabetes Research, Bergen, Norway
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Altered Vascular Function in Boys with Hypospadias - Role of Reactive Oxygen Species
aInstitute for Cardiovascular and Medical Sciences, BHF Centre for Research Excellence, University of Glasgow, Glasgow, UK; bDevelopmental Endocrinology Research Group, School of Medicine, Dentistry and Nursing, University of Glasgow, Glasgow, UK; cDepartment of Paediatric Surgery, Royal Hospital for Children, Glasgow, UK; dInstitute for Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, UK
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Gonadectomy for Adults with DSD Conditions in the International Disorders of Sex Development Registry
aDevelopmental Endocrinology Research Group, University of Glasgow, Glasgow, UK; bDepartment of Paediatrics, University of Cambridge, Cambridge, UK; cInstitute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK; dS. Orsola-Malpighi University Hospital, Pediatric Unit, Center for Rare Endocrine Diseases (CARENDO BO), Bologna, Italy; eS.Orsola-Malpighi University Hospital, Pediatric Unit, Center for Rare Endocrine Diseases (CARENDO BO), Bologna, Italy; fPediatric and Adolescent Endocrinology, University Hospital Pisa (S.B.), Pisa, Italy; gMacleod Diabetes and Endocrine Centre, Royal Devon and Exeter Foundation Trust, Exeter, UK; hRadboudumc Amalia Children’s Hospital, Nijmegen, Netherlands; iDepartment of Pediatric Endocrinology, Ghent University Hospital, Ghent University, Ghent, Belgium; jIstanbul Faculty of Medicine, Pediatric Endocrinology Unit, Istanbul, Turkey; kHuman Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK; lDepartment of Paediatric Endocrinology, Southampton Children’s Hospital, Southampton, UK; mFaculty of Medical laboratory Sciences, Al-Neelain University, Khartoum, Sudan; nDepartment of Endocrinology, Carol Davila University of Medicine, Bucharest, Romania; oMedical University of Silesia, School of Medicine, Katowice, Poland; pMarmara University, Marmara, Turkey; qDepartment of Pediatric Endocrinology, Sophia Children’s Hospital, Erasmus Medical Centre, Rotterdam, Netherlands; rDepartment of Pediatrics, Leiden University Medical Centre, Leiden, Netherlands; sDivision of Paediatric Endocrinology and Diabetes, Department of Paediatrics, University of Luebeck, Luebeck, Germany; tChristian-Albrechts-University of Kiel and University Hospital of Schleswig-Holstein, Kiel, Germany; uMedical University of Varna, Varna, Bulgaria; vUnité d’Endocrinologie/Diabétologie et Gynécologie de l’Enfant et de l’Adolescent, Hôpital d’Enfants, Casablanca, Morocco; wWessex Clinical Genetics Service, University Hospitals Southampton, Southampton, UK; xCentre for Prenatal Diagnosis, The First Hospital of Jilin University, Jilin, China; yUniversity Hospital Motol, Prague, Czech Republic; zClinical Genetic Department, National Research Center, Cairo, Egypt; aaOtto-von-Guericke University, Magdeburg, Germany; bbDepartment of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland; ccDepartment of Women’s and Children’s Health, Karolinska Institutet, Stockholm, Sweden; ddHospital de Niños R. Gutiérrez, Buenos Aires, Argentina; eeSackler School of Medicine, Tel Aviv University, Tel Aviv, Israel; ffDana Dwek Children’s Hospital, Tel Aviv Medical Center, Tel Aviv, Israel
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Phenotypic and Genetic Assessment of Boys with a Suspected XY Disorder of Sex Development
aDevelopmental Endocrinology Research Group, University of Glasgow, Royal Hospital for Children, Office Block, 1345 Govan Road, Glasgow G51 4TF, UK; bWest of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK; cBiochemistry Department, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK; dAcademic Medical Genetics and Pathology, University of Glasgow, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.
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Pediatricians' Attitudes and Beliefs towards Transgender Persons
aPediatric Endocrine and Diabetes Unit, Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Ramat-Gan, Israel; bSackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel; cDepartment of Pediatrics, Assaf Harofeh Medical Center, Zerifin, Israel; dThe Center for Endocrinology, Diabetes and Metabolism, Ramat-Gan, Israel
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Diagnosis of Adolescent Polycystic Ovary Syndrome (PCOS) According to the 2018 International Evidence-Based Guideline for the Assessment and Management of PCOS
aThe University of Adelaide, Discipline of Paediatrics, Adelaide, Australia; bWomen’s and Children’s Hospital - Endocrine and Diabetes, North Adelaide, Australia; cUniversity of Rochester School of Medicine and Dentistry, Rochester, USA; dColumbia University Medical Centre, New York, USA; eChildren’s Hospital of Pittsburgh of University of Pittsburgh Medical Centre, Pittsburgh, USA; fChildren’s Hospital of Philadelphia, Philadelphia, USA; gMonash Centre for Health Research and Implementation Monash University, Melbourne, Australia
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Premature Ovarian Insufficiency in Girls Caused by Autosomal Microdeletions: 3 Case Reports
Department of Pediatrics, The First Affiliated Hospital of Zhejiang University, Hangzhou, China
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Effect of Intrauterine Growth Restriction on Ovarian Follicle Pool
aKarolinska University Hospital, Stockholm, Sweden; bTor Vergata University, Rome, Italy; cBambino Gesù Children’s Hospital, Rome, Italy
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Sustainability of Estradiol Drug Concentrations in Cut Matrix Patches; A Study of Different Brands with Potential Use for Pubertal Induction
aGöteborg Pediatric Growth Research Center, Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; bDepartment of Pediatrics and Pediatric Endocrinology, Medical, University of Silesia, School of Medicine, Katowice, Poland; cDepartment of Clinical Sciences/Pediatrics, Umeå University, Umeå, Sweden; dPediatric Endocrinology and Rare Disease Unit, Department of Medical and Surgical Science, University of Bologna, Bologna, Italy; eDepartment of Pediatric Endocrinology, Sophia Childrens’ Hospital/Erasmus Medical Center and Diabetes, National Diabetes Care and Research Center Rotterdam, Rotterdam, Netherlands
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Serum Anti-Mullerian Hormone (AMH) concentrations and Reduced Appendix Testis Estrogen Receptor Expression in Cryptorchidism
aKaramandaneion Childrens Hospital, Department of Pediatric Surgery, Patras, Greece; bUniversity of Patras School of Medicine, Department of Pathology, Patras, Greece; cUniversity of Patras School of Medicine, Department of Pediatric Surgery, Patras, Greece; dUniversity of Patras School of Medicine, Research Laboratory of the Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Patras, Greece; eFaculty of Human Movement and Quality of Life Sciences, Department of Nursing,University of Peloponnese, Sparta, Greece; fUniversity of Patras School of Mathematics, Department of Statistics, Patras, Greece
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AMH Level of Infants with Premature Thelarche and Possible Relationship between AMH and Mini-puberty
aDr. Sami Ulus Obstetrics and Gynecology, Pediatric Health and Disease Training and Research Hospital, Pediatric Endocrinology Clinic, ankara, Turkey; bDr. Sami Ulus Obstetrics and Gynecology, Pediatric Health and Disease Training and Research Hospital, Pediatric Radiology, ankara, Turkey
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Circulating Makorin Ring Finger Protein 3 Levels Predict Central Precocious Puberty in Girls
aDepartement of Pediatrics, Hallym University, Chuncheon Sacred Heart Hospital, Chuncheon, Republic of Korea; bDepartement of Pediatrics, Hallym University, Gangnam Sacred Heart Hospital, Seoul, Republic of Korea; cDepartement of Pediatrics, Hallym University, Dongtan Sacred Heart Hospital, Hwaseog, Republic of Korea; dDepartement of Pediatrics, Hallym University, Sacred Heart Hospital, Anyang, Republic of Korea; eDepartement of Pediatrics, Hallym University, Gangdong Sacred Heart Hospital, Seoul, Republic of Korea
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Polycystic Ovarian Syndrome in Adolescents: Characterising the Clinical Phenotype and the Role of Precision Medicine
aCentre for Translational Omics, Great Ormond Street Institute of Child Health, University College London, London, UK; bAcademic Department of Adolescent Medicine, The Children’s Hospital at Westmead, Sydney, Australia; cDiscipline of Child and Adolescent Health, The University of Sydney, Sydney, Australia; dThe Department of Adolescent Medicine, The Children’s Hospital at Westmead, Sydney, Australia
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Thyroid Function in Central Precocious Puberty Girls
Department of Pediatrics, Korea University College of Medicine, Seoul, Republic of Korea
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Clinical Phenotypes and Mutation Spectrum of Patients with Isolated Gonadotropin-Releasing Hormone Deficiency in a Single Academic Center
aDepartment of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea; bMedical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea
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