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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

Gonads & DSD P1

Complete Androgen Insensitivity Syndrome Caused by a Deep Intronic Pseudoexon-Activating Mutation in the Androgen Receptor Gene
aPhysiology, Faculty of Medicine, University of Helsinki, Helsinki, Finland; bChildren’s Hospital, Helsinki University Hospital,
Helsinki, Finland; cDepartment of Pediatrics, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland; dInstitute of Dentistry and Institute of Biomedicine, University of Eastern Finland, Kuopio, Finland; eResearch Programs Unit, Genome-Scale Biology, Faculty of Medicine, University of Helsinki, Helsinki, Finland; fInstitute of Biotechnology, University of Helsinki, Helsinki, Finland; gInstitute of Biomedicine, University of Eastern Finland, Kuopio, Finland; hDepartments of Physiology and Pediatrics, University of Turku and Turku University Hospital, Turku, Finland
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46,XY Partial Gonadal Dysgenesis Caused by an Xp21.2 Interstitial Duplication that Does not Encompass the NR0B1 Gene
aDepartment of Medical Genetics, State University of Campinas, Campinas, Brazil; bMolecular Biology and Genetic Engineering Center, State University of Campinas, Campinas, Brazil;
cInterdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas, Campinas, Brazil; dDepartment of Pediatrics, State University of Campinas, Campinas, Brazil
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Global and Sexual Quality of Life in Patients with Rokitanski Syndrome: A Comparative Study Between Surgical vs Non Surgical Management of Vaginal Agenesis in a French Cohort of 130 Patients
aDépartement d’Endocrinologie, Gynécologie et Diabétologie Pédiatriques, APHP Hôpital Necker Enfants Malades, Paris, France; bCentre de Référence des Pathologies Gynécologiques Rares, Paris, France; cDépartement de Chirurgie Pédiatrique Viscérale et Urologique, APHP Hôpital Necker Enfants Malades, Paris, France; dAffilie Institut Imagine, Paris, France; eService de Chirurgie Gynécologique, Institut Mutualiste Montsouris, Paris, France; fService de Gynécologie Obstétrique, Centre Hospitalier Intercommunal de Créteil, Creteil, France; gUnité de Recherche Clinique Paris Descartes Necker, Paris, France; hPôle Obstétrique, Gynécologique et Médecine de la Reproduction, CHU Rennes, Rennes, France
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Intrauterine Growth Restriction Affects Postnatal Testis Maturation in Rats
aDepartment of Women’s and Children’s Health, Karolinska Institutet, Stockholm, Sweden; bDepartment of Systems Medicine, Tor Vergata University, Rome, Italy; cDipartimento Pediatrico Universitario Ospedaliero, “Bambino Gesù” Children’s Hospital – Tor Vergata University, Rome, Italy; dCentre for GeoGenetics, Natural History Museum of Denmark, University of Copenhagen, Copenhagen, Denmark
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Application of on Line Learning in Assessment of Competencies of Fellows Pediatric Endocrinology
aMaasstad Hospital, Rotterdam, The Netherlands; bSophia
Children’s Hospital/ErasmusMC, Rotterdam, The Netherlands; cDepartment of Pediatrics, Ghent University, Ghent, Belgium; dInternational DSD Steering Committee, USSF School of Medicine, San Francisco, USA; eDivision Education and Student Support, Faculty EEMS, Delft University of Technology, Delft,
The Netherlands; fUnkown, Sydney, Australia
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Genotype-phenotype Analysis of NR5A1/SF1 Mutations by Functional in vitro Studies
aInstitut of Experimental Pediatric Endocrinology,
Charité – Universitätsmedizin Berlin, Berlin, Germany;
bHuman developmental genetics, Institut Pasteur, Paris, France
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Sertoli Cell Function During Chemotherapy in Pediatric Patients with Acute Lymphoblastic Leukemia
aCentro de Investigaciones Endocrinológicas ‘Dr. César Bergadá’ (CEDIE), CONICET – FEI, División de Endocrinología. Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina; bUnidad de Hematología. Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina
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Accuracy of Pelvic MRI in Evaluating Internal Genitalia in Patients with Disorders of Sex Development
aAssistance Publique-Hôpitaux de Paris, Hôpital Robert Debré, Service d’Endocrinologie Diabétologie Pédiatrique, Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Paris, France; bAssistance Publique-Hôpitaux de Paris, Hôpital Robert Debré, service de radiologie, Paris, France; cAssistance Publique-Hôpitaux de Paris, Hôpital Robert Debré, service de chirurgie viscérale pédiatrique, Paris, France; dInstitut National de la Santé et de la Recherche Médicale (Inserm), Unité 1141, DHU Protect, Paris, France
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Using Public Databases, 'Virtual Controls' and Geolocalization to Search for Environmental Correlates of Hypospadias
aU1169INSERM, Bicêtre, France; bPediatric Surgery, Lyon, France; cPediatric Urology Centers, France, France; dPediatric
Endocrinology, Bicêtre, France
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The International AGD Consortium: A Multi-center Study of 3939 Infants and Children with Anogenital Distance Measurements
aDepartment of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark; bInternational Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark; cDepartment of Paediatrics, Addenbrooke’s Hospital, University of Cambridge, Cambridge, UK; dDepartment of Environmental Medicine, Institute of Public Health, University of Southern Denmark, Odense, Denmark; eDepartment of Preventive Medicine, Icahn School of Medicine at Mount Sinai, New York, USA
hrp0086p1-p347
Clinical History and High Prevalence of Gonadal Tumor in 14 Patients with 46 XY Pure Gonadal Dysgenesis
aDepartment of Pediatric Endocrinology, Pediatric Medicine, CHU Jean-Minjoz, Besançon, France; bDepartment of Pediatric Endocrinology, Lille University Hospital, Lille, France; cDepartment of Pediatric Endocrinology, Necker Enfants Malades University Hospital, Paris, France; dDepartment of Endocrine Gynaecology and Reproductive Medicine, Lille University Hospital, Lille, France; eDepartment of Pediatric Surgery and Transplantation, Necker Enfants Malades University Hospital, Paris, France; fDepartment of Molecular Endocrinology and Rare Diseases, Biology and Pathology East Center, University of Lyon, Lyon, France; gInserm U1016, University Paris-Descartes, Paris, France
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Abstract unavailable
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A Multicenter Study on Long-Term Outcomes in 56 Males with 45,X/46,XY Mosaicism
aDepartment of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark; bInternational Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark; cDepartment of Paediatrics, Addenbrooke’s Hospital, University of Cambridge, Cambridge, UK; dFaculty of Medical Sciences (FCM), Department of Medical Genetics, State University of Campinas (Unicamp), São Paulo, Brazil; eDipartimento di Scienze Mediche e Chirurgiche, Programma di Endocrinologia Pediatrica, Unita Operativa di Pediatria, Universita di Bologna, Policlinico S. Orsola-Malpighi, Bologna, Italy; fUniversity Hospital Ghent and Ghent University, Ghent, Belgium; gIstanbul University, Istanbul, Turkey; hPediatric Endocrinology and Diabetology, Department of Clinical Research, University Children’s Hospital Bern, Bern, Switzerland; iCentro de Investigaciones Endocrinológicas ‘Dr. César Bergadá’ (CEDIE), CONICET – FEI, División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina; jMarmara University, Istanbul, Turkey; kDepartment of Paediatric Endocrinology, Sophia Children’s Hospital, Erasmus MC, Rotterdam, The Netherlands; lDevelopmental Endocrinology Research Group University of Glasgow, Glasgow, UK; mUniversity of Luebeck, Luebeck, Germany; nDepartment of Endocrinology, University of Medicine and Pharmacy Craiova, University Emergency Hospital Craiova, Craiova, Romania; oPediatric Endocrinology, St. Anna Kinderspital, University of Vienna, Vienna, Austria
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Familial Testotoxicosis: Outcome and Possible Relation to Testicular Malignancies
Wilhemina Children’s Hospital/University Medical Center Utrecht, Utrecht, The Netherlands
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Psychological Impact in Young Women of Announcement of a Utero-Vaginal Malformation (Mayer-Rokitansky-Kuster-Hauser - MRKH Syndrome) and its Treatment
aUnité d’Endocrinologie, Gynécologie et diabétologie pédiatrique, Hôpital Necker – Enfants Malades, Université Paris Descartes, Paris, France; bInstitut de Psychologie, PCPP EA 4056, Université Paris Sorbonne, Boulogne, France; cService de chirurgie pédiatrique, Hôpital Necker – Enfants Malades, Université Paris Descartes, Paris, France; dService de chirurgie gynécologique, Centre Hospitalier Intercommunal de Créteil, Créteil, France; eService de biostatistique, gynecology and diabetology, Hôpital Necker – Enfants Malades, Université Paris Descartes, Paris, France; fCentre des Pathologies Gynécologiques Rares (PGR), Université Paris Descartes, Paris, France; gImagine Institut, Paris, France; hPôle obstétrique, gynécologique et médecine de la reproduction, Hôpital Sud, Rennes, France; iService de chirurgie gynécologique, Institut Mutualiste Montsouris, Paris, France; jPsychologue clinicienne et psychanalyste, Paris, France
hrp0086p1-p354
Mutations at the SF-1 Ligand-Binding Domain Can Lead to Different Effects on DNA Binding: Report of Two Novel Mutations
aCenter for Molecular Biology and Genetic Engineering, Campinas/São Paulo, Brazil; bDepartment of Medical Genetics, Faculty of Medical Sciences, Campinas/São Paulo, Brazil; cInterdisciplinary Group for the Study of Sex Determination and Differentiation, Campinas/São Paulo, Brazil; dDepartment of Pediatrics, Faculty of Medical Sciences, Campinas/São Paulo, Brazil; eDepartment of Paediatric and Adolescent Medicine, University of Luebeck, Lübeck, Germany
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A New International Registry Highlights the Differences in Practice for Reaching a Diagnosis of CAH - On Behalf of the I-CAH/I-DSD Registry User Group
aAbderrahim Harouchi University Hospital, Hassan II University, Casablanca, Morocco; bUniversity of Glasgow, Glasgow, UK; cUniversity of Sheffield, Sheffield, UK; dMarmara University, Istanbul, Turkey; eLeiden University, Leiden, The Netherlands; fGhent University, Ghent, Belgium; gRadboud University, Nijmegen, The Netherlands; hUniversity of Birmingham, Birmingham, UK; iIstanbul University, Istanbul, Turkey; jUniversity of Bologna, Bologna, Italy; kMunich Technical University, Munich, Germany; lKarolinska Institutet, Stockholm, Sweden; mUniversity of Lübeck, Lübeck, Germany; nChildrens Hospital of Eastern Switzerland, St Gallen, Switzerland; oUniversity of Bologna, Bologna, Italy; pHospices Civils de Lyon, Lyon, France; qMunich Technical University, Munich, Germany; rKarolinska University Hospital, Stockholm, Sweden; sAin Shams University, Cairo, Egypt; tUniversity of Lübeck, Luebeck, Germany; uChildrens Hospital of Eastern Switzerland, St Gallen, Switzerland; vUniversity of Medicine and Pharmacy ‘‘Victor Babes’’ Timisoara, Timisoara, Romania
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Changes in Adrenal Steroids During Puberty Suppression and Cross Sex Hormone Treatment in Gender Dysphoric Adolescents
aVU University Medical Centre, Amsterdam, The Netherlands; bLeiden University Medical Centre, Leiden, The Netherlands
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Feasibility Study for Avoiding Early Surgery in Girls with 21-Hydroxylase Deficiency (21OHD)
aPediatric Endocrinology, Bicêtre, France; bChild Adolescent Gynaecology, Athens, Greece; cPediatric Endocrinology, Lille, France
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A Novel Familial Androgen Receptor Mutation (W752G) in Complete Androgen Insensitivity Syndrome: Use of in vitro Study According to the Nature of Amino Acid Substitution
aHospital of Montpellier, Pediatric Endocrinology, Montpellier, France; bHospital of Montpellier, Department of Pediatric Surgery, Montpellier, France; cINSERM Unity 1194, Montpellier, France
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Mosaic Xq Partial Duplication Leading to Virilisation of an Adolescent Female
aSandwell and West Birmingham Hospitals NHS Trust, West Bromwich, UK; bBirmingham Children’s Hospital, West Midlands, UK
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Genotyping Patients with Differences of Sex Development: 25 Years of Investigation of an Italian Population of 308 Cases (194 46,XY and 114 46,XX)
aS.Orsola-Malpighi University Hospital, Bologna, Italy; bDepartment of Medical and Surgical Sciences University of Bologna, Bologna, Italy
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Functional Studies of a New Mutation in the LH/CG Receptor Gene Identified in 2 Sisters with 46,XY DSD
aSektion Experimentelle Paediatrische Endokrinologie und Diabetologie, Klinik für Kinder – und Jugendmedizin, Universität zu Lübeck, 23538 Lübeck, Germany; bCentrum für Reproduktionsmedizin und Andrologie, Westfälische Wilhelms-Universität Münster, 48149 Münster, Germany; cInstitut für Humangenetik, Helmholtz Zentrum München, Deutsches Forschungszentrum für Gesundheit und Umwelt, 85764 Neuherberg, Germany; dKlinik für Kinderheilkunde und Jugendmedizin, Kliniken St. Elisabeth, 86633 Neuburg, Germany; eInstitut für Experimentelle und Klinische Pharmakologie und Toxikologie, Universität Lübeck, 23538 Lübeck, Germany
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Ovarian Reserve Assessment in Girls and Women after Hematopoietic Stem Cell Transplantation Treatment Underwent in Childhood
Department of Pediatric and Adolescent Endocrinology, Pediatric Institute, Medical College, Jagiellonian University, Cracow, Poland
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Compound Heterozygous C10orf2 Mutations in a Japanese Patient with 46,XX Ovarian Failure and Deafness
Department of Pediatrics, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
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Can we Standardize Sex Assignment in 45,X/46,XY Mixed Gonadal Dysgenesis?
aTexas Children’s Hospital, Baylor College of Medicine, Houston, Texas, USA; bRiley Hospital for Children, Indiana University, Indianapolis, Indiana, USA; cChildren’s Nutrition Research Center, Baylor College of Medicine, Houston, Texas, USA
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Intratubular Large Cell Hyalinizing Sertoli Cell Tumor of the Testis Presenting with Prepubertal Gynecomastia: A Case Report
aDepartment of Pediatric Endocrinology, Dokuz Eylul University, Izmir, Turkey; bDepartment of Pathology, Ege University, Izmir, Turkey; cDepartment of Pediatric Radiology, Dokuz Eylul University, Izmir, Turkey; dDepartment of Pediatric Surgery, Dokuz Eylul University, Izmir, Turkey; eDepartment of Pediatric Oncology, Dokuz Eylul University, Izmir, Turkey
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Randomized Controlled Study Comparing Vitamin D and Omega 3-Fatty Acids Supplementation in Adolescents with Polycystic Ovary Syndrome
aCenter for Adolescent Medicine and UNESCO Chair on Adolescent Health Care, First Department of Pediatrics, University of Athens Medical School, Athens, Greece; bUnit of Translational and Clinical Research in Endocrinology, Athens University Medical School, Athens, Greece; cSecond Department of Obstetrics and Gynecology, University of Athens Medical School, Athens, Greece; dDepartment of Bone and Mineral Metabolism, Institute of Child Health, “Aghia Sophia” Children’s Hospital, Athens, Greece; eDivision of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, University of Athens Medical School, “Aghia Sophia” Children’s Hospital, Athens, Greece; fDivision of Endocrinology and Metabolism, Clinical Research Center, Biomedical Research Foundation of the Academy of Athens, Athens, Greece
hrp0086p1-p378
Health-Related Quality of Life and Psychological Wellbeing in Adults with Diverse Sex Development
aDepartment of Paediatrics, Division of Endocrinology and Diabetology, Charité, University Medicine, Berlin, Germany; bHospital for Children and Adolescents, University of Lübeck, Lübeck, Germany; cInstitute for Biometrics and Medical Informatics, Otto-von-Guericke University, Magdeburg, Germany
hrp0086p1-p379
Association of Genetic Polymorphisms Around the LIN28B Gene and Idiopathic Central Precocious Puberty Risks Among Chinese Girls
aDepartment of Endocrinology, Fuzhou Children’s Hospital of Fujian, Teaching Hospital of Fujian Medical University, Fuzhou, Fujian, China; bDepartment of Epidemiology and Health Statistics, Fujian Provincial Key Laboratory of Environment Factors and Cancer, School of Public Health, Fujian Medical University, China, Fuzhou, Fujian, China
hrp0086p1-p380
Psychological Outcomes and Quality of Life of Patients with Non-CAH DSD
aHospital Putrajaya, Putrajaya, Wilayah Persekutuan Putrajaya, Malaysia; bUniversity Malaya Medical Centre, Kuala Lumpur, Malaysia; cUniversity Kebangsaan Malaysia Medical Centre, Kuala Lumpur, Malaysia
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Normalization of Ovulation Rate in Adolescent Girls with Hyperinsulinemic Androgen Excess
aInstitut de Recerca Pediàtrica Hospital Sant Joan de Déu (IRP-HSJD), University of Barcelona, Barcelona, Spain; bCentro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), ISCIII, Madrid, Spain; cCentro Médico CETIR, Barcelona, Spain; dDepartment of Pediatrics, Dr. Josep Trueta Hospital & Girona Institute for Biomedical Research, Girona, Spain; eDepartment of Development & Regeneration, University of Leuven, Leuven, Belgium
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