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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 P3

Gonadal Tumor Incidence in Patients with Disorders of Sex Development Containing Y Chromosome or Y-derived Sequences - Experience from One Clinical Center
aDepartment of Pediatrics and Pediatric Endocrinology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; bChair of Woman’s Health, Medical University of Silesia in Katowice,, Katowice, Poland; cDepartment of Pediatric Surgery, Division of Pediatric Urology, Medical University of Silesia, Katowice, Poland
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New Method of Surgical Correction of Female Hypospadias in Girls with Disorders of Sex Development and Stenosis of Artificial Introitus
aFGBU National Medical Research Center of Endocrinology, Moscow, Russian Federation; bRussian Medical Academy of Continuous Postgraduate Education, Moscow, Russian Federation
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Novel Mutation in Two Related 46, XY Phenotypic Females with 17[beta]-Hydroxysteroid Dehydrogenase 3 Deficiency
aPediatric Department, Bnai-Zion Medical Center, Haifa, Israel; bClalit Health Services, Haifa, Israel; cPediatric Endocrine Unit, Meyer Children’s Hospital, Haifa, Israel; dThe Rappaport Faculty of Medicine, Technion, Haifa, Israel; ePediatric Urology, Shaare Zedek Medical Centre, Jerusalem, Israel; fClalit Health Services, Northern region, Israel; gPediatric Endocrine Institute, Ha’Emek Medical Center, Afula, Israel; hThe Rappaport Faculty of Medicine, Haifa, Israel
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Challenges in Managing 46, XY Partial Gonadal Dysgenesis in Saudi Arabia
aKing Abdullah Specialised Hospital, Riyadh, Saudi Arabia; bKing Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
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Clinical Presentation and Characteristics of DSD in Kenyan Children and Adolescents
aUniversity of Nairobi, Nairobi, Kenya; bMakueni County Referral Hospital, Nairobi, Kenya; cErasmus MC-Sophia, Rotterdam, Netherlands
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Evolutive Profile of Pauci-symptomatic Forms of Mc Cune Albright Syndrome
aHopital Des Enfants, Toulouse, France; bHopital Lapeyroinie, Montpellier, France
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A 45X0/46XY Girl Diagnosed with Prepubertal FSH Elevation
Yeditepe University, School of Medicine, Department of Pediatric Endocrinology, Istanbul, Turkey
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Gender Dysphoria
Queen Silvia Childrens Hospital, Göteborg, Sweden
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Young Male Adolescent with Gender Dysphoria (GD)/Gender Incongruence - A Case Presentation
aDepartment of Endocrinology-Growth and Development, Children’s Hospital P. & A. Kyriakou, Athens, Greece; bDepartment of Pediatric Psychiatry, Children’s Hospital P. & A. Kyriakou, Athens, Greece
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Effect of Gonadotropin-Releasing Hormone Agonist Treatment in Boys with Central Precocious Puberty and Early Puberty
aChosun University Hospital, Gwangju, Republic of Korea; bWonkwang University Sanbon Medical Center, Gunpo, Republic of Korea
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DSD in Ukraine: Our Experience
aNational Specialized Children Hospital ‘OKHMATDYT’, Center of Medical Genetics, Kyiv, Ukraine; bUkrainian Scientific Center of Endocrine Surgery MOH of Ukraine, Pediatric Endocrinology Department, Kyiv, Ukraine; cInstitute Pasteur, Human Developmental Genetics, Paris, France
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Normal External Genitalia in a Female with Classic, Salt-Wasting 21-Hydroxylase Deficiency
King Khalid University Hospital (SCFHS), Riyadh, Saudi Arabia
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Ovarian Leydig Cell Tumor in an 8 Years Old Girl Misdiagnosed as Congenital Adrenal Hyperplasia Due to Elevated 17-Hydroxi-Progesterone
aEndocrinoly Unit, Division of Pediatrics, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile; bServicio de Pediatría, Hospital Higueras, Talcahuano, Chile; cSchool of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile; dUrology Department, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile
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Analysis of Genetic Mutations in a Chinese Pedigree Affected with Idiopathic Hypogonadotropic Hypogonadism Syndrome
aDepartment of Endocrinology, Metabolism, and Genetics, Jiangxi Provincial Children’s Hospital, Nanchang, China; bCentral laboratory, Jiangxi Provincial Children’s Hospital, Nanchang, China
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Cytogenetic Spectrum of Ovotesticular Disorder of Sex Development in Egyptian DSD Patients
aNational Research Centre, Cairo, Egypt; bFaculty of Medecine, Cairo, Egypt
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Cytogenetic Spectrum of Ovotesticular Disorder of Sex Development in Egyptian DSD Patients
aNational Research Centre, Cairo, Egypt; bFaculty of Medecine, Cairo, Egypt
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A Case Report: A Girl with 46,XY Karyotype and Disorder of Androgen Synthesis
aUniversity Children’s Hospital, Ljubljana, Slovenia; bMedical Faculty, Ljubljana, Slovenia; cSteroid Research & Mass Spectrometry Laboratory, Paediatric Endocrinology & Diabetology, University Hospital Giessen, Justus Liebig University, Giessen, Germany
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The Positive Effect of the Low-Dose Contraceptive on the Course of Cystic Fibrosis in the Adolescent Female
Department of Paediatrics, Medical faculty, UPJS and Children Faculty Hospital Kosice, Kosice, Slovakia
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Ovotesticular Disorder of Sexual Development: 31 Cases Followed-up in a Single-Center in Brazil
aInstituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Sao Paulo, Brazil; bFaculdade de Medicina da Universidade de São Paulo, Sao Paulo, Brazil
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Genital Swelling and Ovarian Stimulation Syndrome in an Extremely Preterm Infant
aClinica Universidad de Navarra, Pamplona, Spain; bIdisna, Pamplona, Spain
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Significant Penile Growth with Local DHT-Gel in an Infant with 17-Beta HSD-Deficiency
aDepartment of Women’s and Children’s Health, Karolinska Institutet, Stockholm, Sweden; bDepartment of Paediatric Endocrinology, Astrid Lindgren Children’s Hospital, Karolinska University Hospital, Stockholm, Sweden; cCentre for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; dPaediatric Surgery, Astrid Lindgren Children’s Hospital, Karolinska University Hospital, Stockholm, Tajikistan; eDepartment of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; fChild and Adolescent Psychiatry Research Centre, Stockholm, Sweden
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Mother and Baby Diagnosed Noonan Syndrome with Dysmorphic Findings
aGaziantep University Faculty of Medicine Department of Pediatric Endocrinology, Gaziantep, Turkey; bGaziantep Dr. Ersin Arslan Training and Research Hospital, Medical Genetics, Gaziantep, Turkey; cGaziantep University Faculty of Medicine Children’s Department, Gaziantep, Turkey
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5-Alpha Reductase Type 2 Deficiency among Iranian Patients with Ambiguous Genitalia
aRajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Islamic Republic of Iran; bGrowth and development Research Center, Tehran University of Medical Sciences, Tehran, Islamic Republic of Iran; cDepartment of Pediatric Endocrinology, Pediatric Growth Disorders Research Center, 17th Shahrivar Hospital, School of Medicine, Rasht University of Medical Sciences, Guilan, Islamic Republic of Iran
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New Mutation in 5-Alpha-Redoctase: A Five-Month-Old Infant with a Karyotype of 46 XY
aPediatrics Growth Disorders Research Center, 17 th Shahrivar Hospital, Departement of Pediatrics, Medical School, Guilan University of Medical Sciences, Rasht, Islamic Republic of Iran; bRajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences, Tehran, Islamic Republic of Iran
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A Novel Compound Heterozygous Mutation in CYP19A1 Resulting in Aromatase Deficiency with Normal Gonadotropin Levels and Ovarian Tissue
aDivision of Pediatric Endocrinology, Dokuz Eylul University School of Medicine, Izmir, Turkey; bDepartment of Medical Genetics, Ege University School of Medicine, Izmir, Turkey; cDepartment of Medical Genetics, Dokuz Eylul University School of Medicine, Izmir, Turkey; dDepartment of Pediatric Genetics, Dokuz Eylul University School of Medicine, Izmir, Turkey; eDivision of Pediatric Endocrinology, Pamukkale University School of Medicine, Izmir, Turkey; fDepartment of Pathology, Dokuz Eylul University School of Medicine, Izmir, Turkey; gDepartment of Pediatric Surgery, Dokuz Eylul University School of Medicine, Izmir, Turkey
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Emblematic Case CAH
Clínica de Trastornos de Diferenciación Sexual, Bogota, Colombia
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Paediatric Doctors' Experience and Knowledge of the Initial Management of Neonatal Ambiguous Genitalia
aUniversity Hospital Galway, Galway, Ireland; bRoyal College of Physicians of Ireland, Dublin, Ireland
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A Case of Transverse Testicular Ectopia with Persistant Mullerian Duct Syndrome: A Novel AMH Gene Mutation
aSağlık Bilimleri University Bağcılar Education and Research Hospital, Pediatric Endocrinology, İstanbul, Turkey; bSağlık Bilimleri University Bağcılar Education and Research Hospital,Pediatric Surgery, İstanbul, Turkey; cSağlık Bilimleri University Zeynep Kamil Education and Research Hospital, Pediatric Surgery, İstanbul, Turkey; dSağlık Bilimleri University Zeynep Kamil Education and Research Hospital, Pediatric Endocrinolgy, İstanbul, Turkey
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Argentinean First Experience with Transgender Children and Youths
aEndocrinologia, Hospital de Niños Pedro de Elizalde, Buenos Aires, Argentina; bAdolescencia, Hospital de Niños Pedro de Elizalde, Buenos Aires, Argentina
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46,XY Gonadal Dysgenesis Accompanied by Neuropathy Caused by a DHH Mutation
Shenzhen Children’s Hospital, Shenzhen, China
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Clinical and Molecular Characterization of One Nr5a1 Gene Mutation Found in a Patient WITH 46, XY DSD
aEndocrinology and Diabetes Research Group, BioCruces Health Research Institute, Cruces University Hospital, UPV/EHU, Ciberer, Ciberderm, Barakaldo, Spain; bPediatric Endocrinology, Cruces University Hospital, Barakaldo, Spain
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Genetic Testing by SNP Array Analysis in A Group of Romanian Patients with Disorders of Sexual Development
a‘Iuliu Hatieganu’ University of Medicine and Pharmacy, Cluj-Napoca, Romania; bEmergency Hospital for Children, Cluj-Napoca, Romania; c‘Victor Babes’ University of Medicine and Pharmacy, Timisoara, Romania
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A Novel Gene Mutation and Atypical Clinical Phenotype of Kallmann Syndrome
aNational Center for Child Health and Development, Tokyo, Japan; bNational Center for Child Health and Development, Tokyo, Japan
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