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
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
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
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
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
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
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
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
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
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