Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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Dublin, Ireland; 18-20 September 2014. Further information

Poster Presentations

Sex Development

Mutations Involving FIBULIN2 are a Novel Cause of 46,XY DSD
aInstitut Pasteur, Paris, France; bUniversité Paris Descartes and Pediatric Endocrinology Unit, Fondation Ophtalmologique Adolphe de Rothschild, Paris, France; cDepartment of Paediatrics, G. d’Annunzio, University of Chieti, Chieti, Italy
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Ex vivo Culture of Human Fetal Gonads: Manipulation of Meiosis Regulation Affects Testis Development
aDeaprtment of Growth and Reproduction, Copenhagen University Hospital, Copenhagen, Denmark; bDepartment of Gynaecology, Copenhagen University Hospital, Copenhagen, Denmark
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Prenatal Exposure to Phthalates and Phenols in Relation to Anogenital Distance at Birth in Male Infants
aDepartment of Paediatrics, University of Cambridge, Cambridge, UK; bMRC Epidemiology Unit, Institute of Metabolic Science, Cambridge, UK
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Ovarian Development and Hormonal Feedback Mechanism in a 46XX Patient with cyp19a1 Deficiency Under Low Dose Estrogen Replacement
aPaediatric Endocrinology, Diabetology and Metabolism, University Children’s Hospital, Inselspital, Bern, Switzerland; bDepartment of Diagnostic, Interventional and Paediatric Radiology, Inselspital, Bern, Switzerland
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Isolated Hypospadias and Exposure to Endocrine Disrupting Chemicals During Pregnancy: a Multi-Institutional Controlled Study in a High Prevalence Area
aService de Chirurgie et Urologie Pédiatrique, Hôpital Lapeyronie, Montpellier, France; bService d’Hormonologie, Hôpital Lapeyronie, Montpellier, France; cInstitut Universitaire de Recherche Clinique, Montpellier, France; dService de Chirurgie et Urologie Pédiatrique, Hôpital la Timone, APHM, Marseille, France; eService de Chirurgie et Urologie Pédiatrique, Hôpital Nord, APHM, Marseille, France; fUnité d’Endocrinologie et Diabétologie Pédiatriques, Hôpital la Timone, APHM, Marseille, France; gService de Chirurgie et Urologie Pédiatrique, Hôpital Lenval, Nice, France; hService de Pédiatrie, Hôpital Lenval, Nice, France; iService de Chirurgie et Urologie Pédiatrique, Hôpital Saint-Jospeh, Marseille, France
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A Novel NR5A1 Mutation with Preserved Fertility
aTokyo Metropolitan Children’s Medical Center, Tokyo, Japan; bNational Research Institute for Child Health and Development, Tokyo, Japan
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Development of a Next Generation Sequencing Panel for Disorders of Sex Development
aWest Midlands Regional Genetics Laboratory, Birmingham Women’s NHS Foundation Trust, Birmingham, UK; bWest Midlands Clinical Genetics Service, Birmingham Women’s NHS Foundation Trust, Birmingham, UK; cSchool of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK; dBirmingham Children’s Hospital, Birmingham, UK
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Quality of Life in a Large Cohort of Adult Brazilian Patients with 46,XX and 46,XY Disorders of Sex Development from a Single Tertiary Centre
aUnidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São, Sao Paulo/SP, Brazil; bDisciplina de Urologia, Departamento de Cirurgia Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil
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Subjective Need for Psychological Support in Parents of Children with dsd: Results from the German Clinical Evaluation Study
aCharité, Paediatric Endocrinology, Berlin, Germany; bHospital for Children and Adolescents, Universität zu Lübeck, Lübeck, Germany; cInstitute for Biometrics and Medical Informatics, University Magdeburg, Lübeck, Germany; dInstitute for Social Medicine and Epidemiology, University Lübeck, Lübeck, Germany
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Four Cases of Isolated Partial Gonadal Dysgenesis Due to nr0b1 (dax1) Locus Duplication Inherited in a Large Family
aHôpitaux Pediatriques CHU and CHU-Lenval, Nice, France; bUniversité de Lyon and Hospices Civils, Lyon, France; cCytogenetic Department CHU, Nice, France; dPaediatric Department CHU, Marseille, France; eCytogenetic Laboratory, Université et Hospices Civils, France
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