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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

Poster Presentations

Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2

Physical Assessment in Chinese Children with 5a-reductase Type 2 Deficiency
aShenzhen Children’s Hospital, Shenzhen, China; bBeijing Children’s Hospital, Capital Medical University, Beijing, China; cMaternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China; dShanghai Children’s Medical Center, Shanghai, China; eChildren’s Hospital of Fudan University, Shanghai, China; fJiangxi Provincial Children’s Hospital, Nanchang, China; gChildren’s Hospital of Soochow University, Soochow, China; hFuzhou Children’s Hospital, Fuzhou, China; iCapital Medicine University, Beijing, China
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Evaluation of Three Patients with 46,XY Gonadal Dysgenesis due to Desert Hedgehog Gene Mutations
aIstanbul Faculty of Medicine, Pediatric Endocrinology Unit, Istanbul, Turkey; bIstanbul Faculty of Medicine, Department of Medical Genetics, Istanbul, Turkey
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In-silico Gene-protein Analysis and Clinical Phenotype Characterisation of Three Novel NR5A1/SF1 Gene Mutations Presenting with 46,XY DSD
aDepartment of Paediatrics, University of Cambridge, Cambridge, UK; bPaediatric & Adolescent Endocrine Clinic Unit, The General Infirmary, Leeds, UK; cDepartment of Clinical Genetics, University of Cambridge, Cambridge, UK; dEast Anglian Medical Genetics Service, Cambridge, UK
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Clinical, Biochemical, Structural and Functional Characterization of a Novel P450 Oxidoreductase Mutation Causing Virilization in a 46,XX Patient
aVall d’Hebron Research Institute (VHIR), Hospital Universitario Vall d’Hebron, Centre for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain; bINGEMM, Hospital Universitario La Paz, Centre for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain; cPediatric Endocrinology, Diabetology and Metabolism, University Children’s Hospital, Bern, and Department of Clinical Research, University of Bern, Bern, Switzerland; dPediatric Endocrinology Unit, Hospital Carlos Haya, Málaga, Spain; eNagoya University, Nagoya, Japan
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Copy-Number Variations of the Human Olfactory Receptor Gene Family in Patients with Macromastia and Prepubertal Gynecomastia
aIstanbul University, Pediatric Endocrinology, Istanbul, Turkey; bIstanbul University, Medical Genetics, Istanbul, Turkey; cKanuni Sultan Süleyman EAH, Pediatric Endocrinology, Istanbul, Turkey
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Current Medical Care of Children and Adolescents with Disorders/differences of Sex Development in Switzerland
aInstitute of Social and Preventive Medicine, University of Bern, Bern, Switzerland; bDepartment of Pediatric Endocrinology and Diabetology and Children’s Research Centre, University Children’s Hospital, Zurich, Switzerland; cHospital for Children and Adolescents, Cantonal Hospital Aarau, Aarau, Switzerland; dDepartment of Endocrinology, Children’s Hospital of Eastern Switzerland, St. Gallen, Switzerland; eEnsemble Hospitalier de la Côte EHC, Morges, Switzerland; fPediatric Endocrinology, Diabetes and Metabolism Service of the Department of Maternal and Child Health, Centre Hospitalier Universitaire Vaudois (CHUV), Lausanne, Switzerland; gPaediatric Endocrine and Diabetes Unit, University Hospitals of Geneva, Geneva, Switzerland; hDepartment of Paediatric Endocrinology and Diabetology, Children’s Hospital, Cantonal Hospital Lucerne, Lucerne, Switzerland; iPaediatric Endocrinology and Diabetology, University Children’s Hospital Basel, Basel, Switzerland; jDepartment of Paediatrics, Canton Hospital Fribourg, Fribourg, Switzerland; kPaediatric Endocrinology and Diabetology, Department of Paediatrics, Children’s University Hospital, Bern, Switzerland
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Clinical, Laboratory and Molecular Genetic Findings of Patients with 17[beta]-Hydroxysteroid Dehydrogenase 3 Deficiency
aIstanbul Faculty of Medicine, Pediatric Endocrinology Unit, Istanbul, Turkey; bIstanbul Faculty of Medicine, Department of Medical Genetics, Istanbul, Turkey
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Revisiting the Diagnosis: Next Generation Sequencing (NGS) Identifies Concurrence of PAIS in a Previously Reported Case of Klinefelter Syndrome (47,XXY) with Hypospadias
aDepartment of Paediatric Endocrinology, Birmingham Women’s and Children’s Hospital NHS Foundation Trust, Birmingham, UK; bCentre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK; cWest Midlands Regional Genetic Service, Birmingham Women’s and Children’s Hospital NHS Foundation Trust, Birmingham, UAE; dWest Midlands Regional Genetic Service, Birmingham Women’s and Children’s Hospital NHS Foundation Trust, Birmingham, UK; eDepartment of Paediatric Endocrinology, Birmingham Women’s and Children’s Hospital NHS Foundation Trust, Birmingham, UK; fDepartment of Clinical Psychology, Forward Thinking Birmingham, Birmingham Women’s and Children’s Hospital NHS Foundation Trust, Birmingham, UK; gDepartment of Paediatric Urology, Birmingham Women’s and Children’s Hospital NHS Foundation Trust, Birmingham, UK; hWest Midlands Regional Genetic Service, Birmingham Women’s and Children’s Hospital NHS Foundation Trust, Birmingham, UK; iAcademic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, Shefield, UK
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A 46,XX Female with WT1 Mutation, Congenital Nephrotic Syndrome and a Complex Disorder of Sex Development
aUnit of Endocrinology and Diabetes, ‘Bambino Gesù’ Children’s Hospital, Rome, Italy; bDepartment of Pediatrics, Endocrine Unit, ‘Bufalini’ Hospital, Cesena, Italy; cUnit of Nephrology-Urology, ‘Bambino Gesù’ Children’s Hospital, Rome, Italy; dUnit of Radiology, ‘Bambino Gesù’ Children’s Hospital, Rome, Italy; eUnit of Gynecology, ‘Bambino Gesù’ Children’s Hospital, Rome, Italy; fUnit of Endocrinology and Diiabetes, ‘Bambino Gesù’ Children’s Hospital, Rome, Italy
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Psychological Gender Features and Social Abilities and in Adolescent Girls - Influence of Obesity and Hyperandrogenism
aDepartment of Pediatrics and Pediatric Endocrinology, Medical University of Silesia, School of Medicine in Katowice, Katowice, Poland; bInstitute of Psychology, Faculty of Pedagogy and Psychology, University of Silesia, Katowice, Poland; cDepartment of Woman’s Health, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland
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Two Unrelated Cases of Severe Insulin Resistance Due to Insulin Receptor Mutation Discovered During Adolescence
aPediatric Endocrinology, Angers, France; bPediatric Endocrinology, Niort, France; cEndocrinology, Angers, France
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A Systematic Review of Reported Outcomes for Hypospadias
aDevelopmental Endocrinology Research Group, University of Glasgow, Glasgow, UK; bDepartment of Paediatric Urology, Royal Hospital for Children & University of Glasgow, Glasgow, UK; bInterdisciplinary Center of Pediatric Urology, Department of Paediatric Surgery, Medical University Vienna, Vienna, Austria; cMRC North West Hub for Trials Methodology Research, Department of Biostatistics, University of Liverpool, Liverpool, UK
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Etiology of Disorders of Sex Development in Kenyan Children and Adolescents
aMakueni County Hospital, Nairobi, Kenya; bUniversity of Nairobi, Nairobi, Kenya; cErasmus MC-Sophia, Rotterdam, The Netherlands
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Adiponectin as a Marker of Peripheral Insulin Resistance in Adolescents with Polycystic Ovarian Syndrome (PCOS) and as a Tool to Suspect Insulin Receptor Defects
aCentro de Investigaciones Endocrinológicas ‘Dr César Bergadá’ (CEDIE) CONICET – FEI – División de Endocrinología, Hospital de Niños R. Gutiérrez, Buenos Aires, Argentina; bEndocrinología Pediátrica, Hospital ‘Dr Juan A Fernández’, Buenos Aires, Argentina
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Diagnostic Experiences and Concerns in Adolescents with Polycystic Ovary Syndrome
aThe University of Adelaide, Adelaide, Australia; bWomen’s and Children’s Hospital – Endocrine and Diabetes, North Adelaide, Australia; cMonash Centre for Health Research and Implementation – Monash University, Melbourne, Australia; dWomen’s and Children’s Hospital – Obstetrics and Gynaecology, North Adelaide, Australia
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Impact of Hydrocortisone Treatment on Clitoral Size During First Year of Life in Girls with Congenital Adrenal Hyperplasia (CAH)
aDepartment of Paediatric Endocrinology, Astrid Lindgren Children’s Hospital, Karolinska University Hospital, Stockholm, Sweden; bDepartment of Women’s and Children’s Health, Karolinska Institute, Stockholm, Sweden; cDepartment of Women’s and Children’s Health, Karolinska Institutet, Stockholm, Sweden; dPaediatric Surgery, Astrid Lindgren Children’s Hospital, Stockholm, Sweden. 5Centre for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
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Persistent Mullerian Duct Syndrome: Rare But Important Aetiology of an Inguinal Hernia and Cryptorchidism in Boys
aMarmara University, School of Medicine, Department of Paediatric Endocrinology and Diabetes, Istanbul, Turkey; bMarmara University School of Medicine, Department of Paediatric Surgery, Istanbul, Turkey; cFaculté de Médecine Sorbonne Université, CRSA – Inserm UMRS 938, Paris, France
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Spontaneous Pregnancies in Female Survivors of Childhood Hematological Malignancies Post Allogeneic Haemopoietic Stem Cell Transplantation
aRoyal Children’s Hospital, Melbourne, Australia; bMurdoch Children’s Research Institute, Melbourne, Australia
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Towards an Integrated Approach to Diagnosis of 46,XY Disorder of Sex Development
aDepartment of Paediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland; bEndocrinology, Diabetology & Metabolism Service, Lausanne, Switzerland; cDevelopmental Endocrinology Research Group, School of Medecine, Dentistry & Nursing, University of Glasgow, Glasgow, UK; dDivision of Gynaecology, Department of Perinatology and Gynaecology, Poznan University of Medical Sciences, Poznan, Poland; eDepartment of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland
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Mini-Puberty in Boys with Inguinal Cryptorchidism
Saratov State Medical University, Saratov, Russian Federation
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The Human Genital Tubercle is Steroidogenic Organ at Earlypregnancy
aKarolinska Institutet & University Hospital, Stockholm, Sweden; bLUNAM Université, Nantes, France
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Transgender Medicine is a Significant Part of Paediatric Endocrinology
MVZ Praxis im Chilehaus, Paediatric Endocrinology, Sexual Medicine, Andrology, Hamburg, Germany
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Genetic Etiologies and Gender Outcomes of Patients with Disorders of Sex Development Presenting with Asymmetric Gonads
aDepartment of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea; bMedical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea
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A Case of Gonadal Dysgenesis Due to a Novel Homozygous Mutation in NR5A2 Gene
aCenter for Rare Endocrine Diseases Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany; bDivision of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University Hospital of Schleswig-Holstein, UKSH, Campus Kiel, Kiel, Germany; cDivision of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University Hospital of Schleswig-Holstein, UKSH, Campus Lübeck, Lübeck, Germany
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Assessment of Initial Investigation Requested in Adolescents with Menstrual Disorders
a1st Department of Obstetrics and Gynecology, National and Kapodistrian University, Athens, Greece; bUCH, London, UK
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Persistent Mullerian Duct Syndrome in Twin Brothers Caused by a Novel Mutation in the AMHR2 Gene
aDepartment of Pediatrics, Division of Pediatric Endocrinology, UZ Brussel, Jette, Belgium; bDepartment of Medical Genetics, UZ Brussel, Jette, Belgium;
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Assessment of the Gonadotrophin-Gonadal Axis and Sertoli Cell Function in Partial Androgen Insensitivity Syndrome
Department of Pediatrics, Faculty of Medicine, Alexandria University, Alexandria, Egypt
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Prevalence and Ethiologic Factors of Hirsutism in Adolescents
Ataturk University Medical Faculty, Erzurum, Turkey
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