Previous issue | Volume 94 | ESPE2021

59th Annual ESPE (ESPE 2021 Online)

Online,
22 Sep 2021 - 26 Sep 2021

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The 59th ESPE Annual Meeting will now be held online in September 2021.

ePoster Category 1

Sex Endocrinology and Gonads A

Phenotypic Characteristics of Patients with 45,X/46,XY Mosaicism: Growth, Gonadal Pathology and Tumour Risk
1Istanbul University, Istanbul Faculty of Medicine, Pediatric Endocrinology Unit, Istanbul, Turkey; 2Istanbul University, Istanbul Faculty of Medicine, Department of Medical Genetics, Istanbul, Turkey
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Disorders of sex development: clinical and genetic heterogeneity
Almazov National Medical Research Center, Saint-Petersburg, Russian Federation
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Broad range of phenotypes in an international cohort of 75 DSD individuals with SF-1/NR5A1 variants
1Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland; 2Department for BioMedical Research, University of Bern, Bern, Switzerland; 3Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Glasgow, United Kingdom; 4Office for Rare Conditions, University of Glasgow, Glasgow, United Kingdom; 5Department of Medical and Surgical Sciences, University Hospital S.Orsola-Malpighi, Bologna, Italy; 6Growth and Development Group Vall d’Hebron Research Institute (VHIR), Barcelona, Spain; 7University of Health Sciences Turkey, Ankara Dr. Sami Ulus Obstetrics and Pediatrics Training and Research Hospital, Clinic of Pediatric Endocrinology, Ankara, Turkey; 8Department of Paediatric Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands; 9Division of Paediatric Endocrinology, Department of Paediatrics and Internal Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium; 10Istanbul University, Istanbul Faculty of Medicine, Pediatric Endocrinology Unit, Istanbul, Turkey; 11Southampton Children’s Hospital, University Hospital Southampton, Southampton, United Kingdom; 12Laboratory of Human Molecular Genetics, Center of Molecular Biology and Genetic Engineering (CBMEG)/Unicamp, Sao Paulo, Brazil; 13Ukrainian Center of Endocrine Surgery Endocrine Organs and Tissue Transplantation, MoH of Ukraine, Kiev, Ukraine; 14Interdisciplinary Group for the Study of Sex Determination and Differentiation – GIEDDS and Department of Pediatrics, Faculty of Medical Sciences, State University of Campinas, Sao Paulo, Brazil; 15Marmara University, Department of Pediatric Endocrinology and Diabetes, Pendik, Istanbul, Turkey; 16Erasmus Medical Centre, Sophia Children’s Hospital, Department of Pediatric Endocrinology, Rotterdam, Netherlands; 17Leiden University Medical Centre, Department of Pediatrics, Leiden, Netherlands; 18Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University of Lübeck, Lübeck, Germany; 19Endocrinology Research Centre, Moscow, Russian Federation; 20Wessex Clinical Genetics Service, University Hospital Southampton, Southampton, United Kingdom; 21Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland; 22Department of Endocrinology, Children’s Hospital of Eastern Switzerland, St.Gallen, Switzerland; 23Division of Pediatric Endocrinology and Diabetology and Children’s Research Centre, University Children’s Hospital, Zürich, Switzerland; 24Biocruces Bizkaia Health Research Institute, CIBERDEM, CIBERER, Barakaldo, Spain; 25Clinical Genetics Department, National Research Center, Cairo, Egypt; 26Pediatric Endocrinology and inborn errors of metabolism, Karolinska University Hospital, Stockholm, Sweden; 27Department of Women’s and Children’s Health, Karolinska Institutet, Stockholm, Sweden; 28Department of Paediatrics, University of Cambridge, Cambridge, United Kingdom; 29University Hospital of Messina, Department of Human Pathology of Adulthood and Childhood, Messina, Italy
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Adolescents and young adult men with non-syndromic hypospadias: testicular function and in-depth genetic screening
1Ghent University Hospital, Ghent, Belgium; 2Medical University of Vienna, Vienna, Austria; 3St Anna Children´s Hospital, Vienna, Austria; 4Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark; 5University of Copenhagen, Copenhagen, Denmark
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Bilateral testicular regression: genetic etiology and outcome in a large Belgian series
1Ghent University Hospital, Ghent, Belgium; 2Université Libre de Bruxelles, HUDERF, Brussels, Belgium; 3AZ Turnhout, Turnhout, Belgium; 4University Hospitals Leuven, Leuven, Belgium; 5KU Leuven, Leuven, Belgium; 6Centre Hospitalier Universitaire UCL, Namur, Belgium
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Endocrine & Molecular Genetic Findings In XY Boys Investigated For A Disorder Of Sex Development: the Glasgow Experience
1Developmental Endocrinology Research Group, University of Glasgow, Royal Hospital for Children, Glasgow, United Kingdom; 2Biochemistry Department, Queen Elizabeth University Hospital, Glasgow, United Kingdom; 3West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, United Kingdom; 4Academic Medical Genetics and Pathology, University of Glasgow, Queen Elizabeth University Hospital, Glasgow, United Kingdom
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Gonadal Outcome in 17beta-HSD deficiency and 5alpha-reductase deficiency
1Erasmus University Medical Centre, Rotterdam, Netherlands; 2Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, Netherlands; 3University of Glasgow, Glasgow, United Kingdom; 4Orsola-Malpighi University Hospital, Bologna, Italy; 5Ghent University Hospital, Ghent, Belgium; 6Al-Neelain Medical Research Centre, Khartoum, Sudan; 7Ukrainian Research Center of Endocrine Surgery, Kyiv, Ukraine; 8Marmara University Faculty of Medicine, Istanbul, Turkey; 9University of Lübeck, Lübeck, Germany; 10University Hospital of Schleswig-Holstein and Christian Albrechts University, Kiel, Germany; 11Institut Pasteur, Paris, France; 12Poznan University of Medical Sciences, Poznan, Poland; 13Scientific Institute San Raffaele, Milan, Italy; 14Princess Máxima Centre for Pediatric Oncology, Utrecht, Netherlands; 15Leiden University Medical Centre, Leiden, Netherlands
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Biallelic PPP2R3C mutations are associated with partial and complete gonadal dysgenesis in 46,XY and 46,XX individuals
1Erciyes University, School of Medicine, Department of Paediatric Endocrinology and Diabetes, Kayseri, Turkey; 2Mammalian Genetics Unit, Medical Research Council Harwell Institute, Harwell, Oxfordshire, United Kingdom; 3Istanbul University, School of Medicine, Department of Medical Genetics, Istanbul, Turkey; 4Konya Training and Research Hospital, Department of Medical Genetics, Konya, Turkey; 5Istanbul University, School of Medicine, Department of Pediatric Endocrinology and Diabetes, Istanbul, Turkey; 6Marmara University, School of Medicine, Department of Paediatric Endocrinology and Diabetes, Istanbul, Turkey
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Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency
1Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom; 2Institute for Women’s Health, University College London, London, United Kingdom; 3GOSgene, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom; 4Department of Molecular Medicine and Pathology, University of Auckland, Auckland, New Zealand; 5Laboratory of Development of the Gonads, UMR E008 Genetic Stability Stem Cells and Radiations, Université de Paris, Université Paris Saclay, CEA, Paris, France; 6Zayed Centre for Research into Rare Disease in Children, University College London, London, United Kingdom; 7Developmental Biology and Cancer, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom; 8Department of Endocrinology, Pontificia Universidad Católica de Chile, and Universidad San Sebastián, Santiago, Chile
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