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55th Annual ESPE

Paris, France
10 Sep 2016 - 12 Sep 2016

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Paris, France: 10-12 September 2016 Further information

Poster Presentations

Gonads & DSD P2

Thyroid Autoimmunity in Adolescent Girls with Polycystic Ovary Syndrome - Pilot Study
Department of Pediatrics and Pediatric Endocrinology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland
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The Efficacy and Safety of Gonadotropin-Releasing Hormone Analogue Treatment to Suppress Puberty in Gender Dysphoric Adolescents
aLeiden University Medical Centre, Leiden, The Netherlands; bVU University Medical Centre, Amsterdam, The Netherlands
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A Familial form of DSD due to NR5A1 Mutation in a Father and His Son
aPediatric Endocrinology, Hopital Femme Mère Enfant, Hospices Civils de Lyon, Lyon-Bron, France; bEndocrinology Federation, Hospices Civils de Lyon, Lyon-Bron, France; cLaboratory of Molecular and Endocrine Biology, Centre de Biologie Est, Hospices Civils de Lyon, Lyon-Bron, France; dPediatric Urology, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Lyon-Bron, France
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High Prevalence of SGA in Patients with Disorders of Sexual Development, Especially Idiopathic 46,XY DSD
aDepartment of paediatrics, CHU Bab el Oued, Algiers, Algeria; bLaboratoire d’endocrinologie, CHU Montpelier, Montpelier, France; cEPH Belfort, Algiers, Algeria
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Questionnaire Surveys Targeting Japanese Pediatric Endocrinologists Regarding Reproduction in Pediatric and Adolescent Cancer Patients
aOsaka University Graduate School of Medicine, Osaka, Japan; bOsaka City General Hospital, Osaka, Japan; cNational Center for Child Health and Development, Tokyo, Japan; dAkita University Graduate School of Medicine, Akita, Japan; eNiigata University Graduate School of Medical and Dental Sciences, Niigata, Japan; fIsehara Kyodo Hospital, Kanagawa, Japan; gTohoku University Hospital, Sendai, Japan; hToranomon Hospital, Tokyo, Japan; iHamamatsu University School of Medicine, Hamamatsu, Japan
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Fertility Outcomes after Childhood Onset Hypothalamic Hypogonadism
aRoyal Children’s Hospital, Melbourne, Victoria, Australia; bMurdoch Children’s Research Institute, Melbourne, Victoria, Australia
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Persistent Mullerian Duct Syndrome with Transverse Testicular Ectopia: A Novel AMH Receptor Mutation
aDepartment of Pediatric Endocrinology, Ege University School of Medicine, Izmir, Turkey; bDepartment of Radiology, Ege University School of Medicine, Izmir, Turkey; cDepartment of Pathology, Ege University School of Medicine, Izmir, Turkey; dDepartment of Genetics, Ege University School of Medicine, Izmir, Turkey; eDepartment of Pediatric Surgery, Ege University School of Medicine, Izmir, Turkey
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Three Cases of NR5A1 (SF1) Gene Mutations in DSD Patients
aMedical University of Saratov, Saratov, Russia; bEndocrinology Research Center, Moscow, Russia
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Identification of an AR Mutation in Klinefelter's Syndrome during Evaluation for Penoscrotal Hypospadias
aDokuz Eylul University Faculty of Medicine, Department of Pediatric Endocrinology, Izmir, Turkey; bDokuz Eylul University Faculty of Medicine, Department of Medical Genetics, Izmir, Turkey; cEge University Faculty of Medicine, Department of Medical Genetics, Izmir, Turkey; dDokuz Eylul University Faculty of Medicine, Department of Pediatric Genetics, Izmir, Turkey
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Assessment of Sexual Identity in Patients with Congenital Adrenal Hyperplasia
aH. Aliasghar Children’s Hospital, Iran University of Medical Sciences, Tehran, Iran; bMetabolic Disorders Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran; cMental Health Research Center, Tehran Institute of Psychiatry, School of Behavioral Sciences and Mental Health, Iran University of Medical Sciences, Tehran, Iran
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Evaluation of Anti-Mullerian Hormone (AMH) Assay Roche® on Umbilical Cord Blood: Determination of Reference Values in Girls and Boys Newborn
aHospices Civils de Lyon, Lyon, France; bUniversite Claude Bernard Lyon 1, Lyon, France; cINSERM 1208, Lyon, France
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Hypogonadotropic Hypogonadism in a Girl with 2p11.2-2q12.1 Duplication
Health Sciences Department, University of Florence, Anna Meyer Children’s University Hospital, Florence, Italy
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A Nonvirilized form of Classic 3[beta]-Hydroxysteroid Dehydrogenase Deficiency Due to a Homozygous S218P Mutation in the HSD3B2 Gene in a Girl with Classic Phenylketonuria
aHacettepe University, Division of Pediatric Endocrinology, Ankara, Turkey; bErciyes University, Department of Medical Genetics, Kayseri, Turkey; cHacettepe University, Division of Metabolic Diseases, Ankara, Turkey
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Diagnosis of PCOS in Adolescents Using MRI
aDepartments of Pediatric Radiology, Bicêtre Hospital, AP—HP, Le Kremlin-Bicêtre, Ile-de-France, France; bDepartment of Epidemiology and Public Health, Bicêtre Hospital, AP—HP, Le Kremlin-Bicêtre, Ile-de-France, France; cPediatric Endocrinology, Bicêtre Hospital, AP—HP, Le Kremlin-Bicêtre, Ile-de-France, France; dParis-XI University, Bicêtre Hospital, AP—HP, Le Kremlin-Bicêtre, Ile-de-France, France
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Novel CYP17A1 Mutation and CYP21 Mutations in Two Siblings
aGaziantep Children’s Hospital, Pediatric Endocrinology, Gaziantep, Turkey; bGaziantep University Faculty of Medicine, Pediatric Endocrinology, Gaziantep, Turkey; cDışkapı Yıldırım Beyazıt Training and Research Hospital, Genetics, Ankara, Turkey
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Case Report of a Girl with Secondary Amenorrhea Associated with Aurantiasis Cutis
aMVZ Praxis im Chilehaus, Pediatric Endocrinology, Andrology, Sexual Medicine, Hamburg, Germany; bGöteborg Pediatric Growth Research Center, Department of Pediatrics, Institute of Clinical Sciences, The Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden
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Maternal Ovarian Luteoma Causing Complete Virilization of a Female Fetus
aJohn H. Stroger Jr. Hospital of Cook County, Chicago, Illinois, USA; bRUSH University Hospital, Chicago, Illinois, USA
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The Experience of GAIA (Abuse Childhood and Adolescence Group) - AOU Meyer
aHealth Sciences Department, University of Florence, Anna Meyer Children’s University Hospital, Florence, Italy; bPaediatric Auxoendocrinology and Gynecology Unit, Anna Meyer Children’s University Hospital, Florence, Italy
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Disorders of Sex Genitalia in Yaounde: Difficult Questions, Which Answers?
aUniversity of Yaounde I, Yaounde, Cameroon; bMother and Child Center, Yaounde, Cameroon; cGynecoobstertric and Pediatric Hospital, Yaounde, Cameroon; dYaounde Central Hospital, Yaounde, Cameroon; eChildren in Action, Geneva, Switzerland; fUniversity Claude Bernard, Lyon, France
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Analysis of Clinical Manifestations and Gene Mutations of 5[alpha]-Reductase Type 2 Deficiency in 16 Cases
Department of Pediatrics, Sun Yat-sen Memorial Hospital, Sun Yat-Sen University, Guangzhou, China
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Phenotypic and Hormonal Variability in 46,XY Subjects with SF-1 Mutations
aPediatric Endocrinology, Angers University Hospital, Angers, France; bPediatrics, Morlaix Hospital, Morlaix, France; cPediatric Endocrinology, Brest University Hospital, Brest, France; dPediatrics, Lorient Hospital, Lorient, France; eMolecular Biology, Lyon University Hospital, Lyon, France
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Two Patients Presenting the Extremes of the Phenotypic Spectrum of 5 alfa Reductase Deficiency: One with at New Mutation
aDepartment of Pediatrics, Aarhus University Hospital, Aarhus, Denmark; bDepartment of Urology, Aarhus University Hospital, Aarhus, Denmark; cDepartment of Clinicel Genetics, Aarhus University Hospital, Aarhus, Denmark
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Reproductive Function of Central Precocious Puberty in Girls: A Systematic Review
aDongguk University Ilsan Hospital, Goyang-si, Gyeonggi-do, Republic of Korea; bKonyang University Hospital, Metropolitan City Daejon, Republic of Korea
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Cytogenetic Variability and Phenotypic Findings in Patients with Ovotesticular Disorder of Sex development
aNational Research Centre, Cairo, Egypt; bPediatric Surgical Division, Cairo University, Cairo, Egypt
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XLAG Syndrome Case Accompanying a New ARX Mutation and has a Interhemispheric Cyst
aDepartment of Neonatology, Erciyes University School of Medicine, Kayseri, Turkey; bDepartment of Pediatric Radiology, Erciyes University School of Medicine, Kayseri, Turkey; cDepartment of Medical Genetic, Süleyman Demirel University, Isparta, Turkey
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Congenital Adrenal Lipoid Hyperplasia in a 30-Year-Old Female with a Tall Stature
aDepartment of Pediatrics, Iwate Medical University, Morioka, Iwate, Japan; bDivision of Pediatric Endocrinology and Metabolism, Shikoku Medical Center for Children and Adults, Zentsuji, Kagawa, Japan; cDivision of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Fuchs, Tokyo, Japan
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Onset of Puberty in Healthy Boys is Associated with a Decreased BMI Compared to Values Prior to the Onset of Puberty
Pediatric Endocrinology Unit, Department of Pediatrics, Istanbul University Istanbul Faculty of Medicine, Istanbul, Turkey
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Late Clinical Presentation, Biological Assessment and Management of PAIS in a Developing Country
aHôpital Femme-Mere-Enfants, Bron, France; bHospices Civils De Lyon, Lyon, France; cYaounde Gynaeco-Obstetric and Paediatrics Hospital, Yaounde, Cameroon; dUniversity of Geneva Children’s Hospital, Geneva, Switzerland
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Sisters with 46XY Gonadal Dysgenesis and Gonadoblastoma
aDepartment of Endocrinology, Growth and Development, Children’s Hospital P &A Kyriakou, Athens, Greece; bDepartment of Oncology, Children’s Hospital of Athens P & A Kyriakou, Athens, Greece; cDepartment of Genetics, University of Athens, Athens, Greece
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Follow-up to Adulthood of Two 46,XY Siblings with 5-alpha Reductase Deficiency and Different Sex of Rearing
aHospital for Sick Children/University of Toronto, Toronto, Ontario, Canada; bUniversity of Michigan, Ann Arbor, Michigan, USA; cSainte-Justine Hospital/Université de Montréal, Montreal, Quebec, Canada
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Complete Virilization without Salt Wasting in a 7-year-old Haitian Child with Congenital Adrenal Hyperplasia
aHopital Universitaire de Mirebalais, Mirebalais, Haiti; bMcGill University Health Center, Montreal, QC, Canada; cCentre Hospitalier Universitaire de Sainte Justin, Montreal, QC, Canada; dOur Lady of Lourdes Hospital, Binghampton, New York, USA
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Hematocolpos Revealed by Non-cyclic Lower-back Pain in a Pre-menarcheal Girl
aAP-HP, Hôpitaux Universitaires Paris Sud (Bicêtre), Service de Médecine des Adolescents, Le Kremlin Bicêtre, France; bAP-HP, Hôpitaux Universitaires Paris Sud (Bicêtre), Service de Gynécologie-Obstétrique, Le Kremlin Bicêtre, France; cAP-HP, Hôpitaux Universitaires Paris Sud (Bicêtre), Centre de Référence des Maladies Rares des Anomalies du Développement Sexuel, Le Kremlin Bicêtre, France
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Study of Genetics of Human Disorders of Sexual Development. Research Project.
Yerevan State Medical University, Yerevan, Armenia
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46XX Male Syndrome
Yerevan State Medical University, Yerevan, Armenia
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45,X/47,XYY Chromosomal Mosaicism as a Cause of 46,XY Disorder of Sex Development
aDepartment of Pediatric Endocrinology, Faculty of Medicine, Adnan Menderes University, Aydin, Turkey; bDepartment of Neonatology, Faculty of Medicine, Adnan Menderes University, Aydin, Turkey
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46,XY Complete Gonadal Dysgenesis with Late Diagnosis
aFirst Pediatric Clinic, UMHAT “Sveta Marina”, Medical University, Varna, Bulgaria; bNational Genetic Laboratory, UHOG “Maichin dom”, Medical University, Sofia, Bulgaria; cClinic of Medical Genetics, UMHAT “Sveta Marina”, Medical University, Varna, Bulgaria; dClinic of Diagnostic Imaging, UMHAT “Sveta Marina”, Medical University, Varna, Bulgaria
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Diagnosis, Treatment and Gene Mutation Analysis of the Case with Steroid 5[alpha]-Reductase Type 2 Deficiency
Wuhan Medical and Healthcare Center for Women and Children, Wuhan, China
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An Infant with 49XXXXY Syndrome: A Case Report from Sri Lanka
aLady Ridgewy Hospital, Colombo, Sri Lanka; bProvincial Genaral Hospital, Badulla, Sri Lanka
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Hypogonadotropic Hypogonadism in a Patient with Vanishing Testis Syndrome - Case Report
aDepartment of Endocrinology, University of Medicine and Pharmacy, Tirgu Mures, Romania; bClinical Department of Endocrinology, Clinical Hospital Mures County, Tirgu Mures, Romania; cMedical Center Nova Vita Hospital, Tirgu Mures, Romania; dDoctoral School of University of Medicine and Pharmacy, Tirgu Mures, Romania
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An Uncommon Case of Adolescent with POF
Pediatric Endocrinology and Diabetes Unit, Pediatric Department, Bellinzona-Lugano, Switzerland
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Trisomy 9 Syndrome in an Infant with Ambiguous Genitalia
aMaryam Nakhaeimoghadam, Tehran, Iran; bArya Sotoudeh, Tehran, Iran; cReihaneh Mohsenipour, Tehran, Iran; dNima Rezaei, Tehran, Iran; eParastoo Rostami, Tehran, Iran
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