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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

Free Communications

Sex differentiation, Gonads and Gynaecology or Sex Endocrinology

Estrogen Receptor 2 Variant as a Novel Cause for Dysgenetic Ovaries
aUniversity Children’s Hospital, Zürich, Switzerland; bUniversity of Fribourg, Fribourg, Switzerland
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Partial Restoration of Biological Effects of Estrogen in a Female with Estrogen Receptor [alpha] Variant
aDepartment of Endocrinology, Diabetology and Nutrition, University Hospital of Nancy, Nancy, France; 2INSERM UMR 1048, I2MC, University of Toulouse, Toulouse, France; cDepartment of Genetics, University Hospital of Caen, Caen, France; dDepartment of Gynaecology, University Hospital of Poitiers, Poitiers, France; eNSERM UMR 1194, University of Montpellier, Montpellier, France; fDepartment of Diabetology and Endocrinology, University Hospital of Poitiers, Poitiers, France. gDepartment of Diabetology and Nutrition, University Hospital of Toulouse, Toulouse, France
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Exomic Sequencing Uncovers Novel Genetic Associations for Deciphering Developmental Disorders (DDD) Study Participants with Hypospadias, Cardiovascular and Neurodevelopmental Abnormalities
aAcademic Unit of Medical Genetics and Clinical Pathology, Laboratory Medicine Building, Queen Elizabeth University Hospital, University of Glasgow, Glasgow, UK; bDevelopmental Endocrinology Research Group, Royal Hospital For Children, University of Glasgow, Glasgow, UK; cWest of Scotland Regional Genetics Service, Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, Glasgow, UK; dSchool of Medicine, Dentistry & Nursing, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK; eWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK
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STARD8, a Novel Candidate Gene for 46,XY Disorders of Sex Development
aEndocrinology Division, Section of Medicine, University of Fribourg, Fribourg, Switzerland; bDepartment of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland
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DEAH-Box Helicase 37defects (DXH37) Deffects are a Novel Cause of 46,XY Gonadal Dysgenesis
aUniversidade de Sao Paulo/FMUSP, Sao Paulo, Brazil; bUniversity of Michigan, Ann Arbor, Michigan, USA; cHospital Nacional Prof. Dr. A. Posadas, Buenos Aires, Argentina; dPontificia Universidad Catolica de Chile, Santiago, Chile; eHospital de Clinicas de Porto Alegre, Porto Alegre, Brazil; fFaculdade de Medicina, Universidade de São Paulo, Sao Paulo, Brazil; gChildren’s National Medical Center, Washington, District of Columbia, USA; hUniversity of Michigan Medical School, Ann Arbor, Michigan, USA.
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