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54th Annual ESPE

Barcelona, Spain
01 Oct 2015 - 03 Oct 2015

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Barcelona, Spain; 1-3 October 2015 Further information

Poster Category 3

DSD

Clinical Findings, Endocrine Profile and Genetic Features of 5[alpha]-Reductase-2 Deficiency
aDepartment of Pediatrics and Adolescent Medicine, San Raffaele Hospital, University ‘Vita e Salute’, Milano, Italy; bDepartment of Cytogenetic and Molecular Biology, S. Chiara University Hospital, Pisa, Italy; cDepartment of Neonatology, S. Chiara University Hospital, Pisa, Italy; dAdolescent Medicine, Department of Pediatrics, S. Chiara University Hospital, Pisa, Italy; eEndocrine Laboratory, S. Chiara University Hospital, Pisa, Italy; fDivision of Pediatrics, San Giuseppe Hospital, Empoli, Italy
hrp0084p3-780
Aromatase Deficiency due to Novel CYP19A1 Mutation in an Egyptian Patient with Ambiguous Genitalia
aNational Research Center, Cairo, Egypt; bInstitut Pasteur, Paris, France; cNational Research Center, Cairo, Egypt
hrp0084p3-781
Impact of Neonatal Exposure to Different Doses of Bisphenol A on the Hypothalamic-Pituitary-Testicle Axis in Male Rat
aSoochow Children’s Hospital, Su Zhou, China; bResearch Institute Of Soochow Children’s Hospital, Su Zhou, China
hrp0084p3-783
A Cross-Sectional Growth Reference and Chart of Stretched Penile Length for Japanese Boys Aged 0-7 Years: Ethnic Differences and Secular Changes
aKeio University School of Medicine, Tokyo, Japan; bNational Center for Child Health and Development, Tokyo, Japan; cHealth Center, Keio University, Tokyo, Japan
hrp0084p3-784
Recurrent Orchitis in a Patient with True Hermaphroditism
Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil
hrp0084p3-785
Isolated Persistent Pubertal Gynecomastia in Three Adolescent Males as the Only Phenotypic Expression of PAIS with Androgen Receptor Gene Mutations
aCHRU and Université de Montpellier, Montpellier, France; bCHRU de Montpellier, Montpellier, France; cCHU Fort de France, Fort-de-France, La Réunion, French Southern Territories; dInstitut de Génétique Humaine - CNRS UPR1142, Montpellier, France
hrp0084p3-786
Identical Twins Raised as Sister and Brother
Department of Endocrinology, Hamburg, Germany
hrp0084p3-787
A Novel Mutation in Steroidogenic Factor Gene in a Patient with 46, XY DSD without Adrenal Insufficiency
aFaculty of Medicine, Department of Pediatric Endocrinology, Dokuz Eylul University, Izmir, Turkey; bFaculty of Medicine, Department of Medical Genetics, Ege University, Izmir, Turkey
hrp0084p3-789
'Female', 'Male', or 'Between' in a 46, XY-Patient with a 17sz-HSD3-Mutation
aDepartment of Endocrinology, Hamburg, Germany; bDepartment of Endocrinology, Hamburg, Germany; cDepartment of Endocrinology, Magdeburg, Germany; dDepartment of Endocrinology, Luebeck, Germany
hrp0084p3-791
Physical Assessment and Growth Curve of 46, XY Disorders of Sex Development Children Who Aged 0-16-Years-Old
aBeijing Children’s Hospital, Capital Medical University, Beijing, China; bSchool of Biomedical Engineering, Capital Medical University, Beijing, China
hrp0084p3-792
A Novel Mutation of the AR Gene Causes Androgen Insensitivity Syndrome: A Case Report
aShenzhen Childrens Hospital, Shenzhen, China; bShenzhen Nanshan Peoples Hospital, Shenzhen, China
hrp0084p3-793
A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
aFaculty of Medicine, Department of Pediatric Endocrinology, Dokuz Eylül University, Izmir, Turkey; bFaculty of Medicine, Department of Medical Genetics, Ege University, Izmir, Turkey
hrp0084p3-794
Polymorphisms and Mutations of the Genes INSL3 and HOXD13 in the Pathogenesis of Isolated Cryptorchidism in Greece
aDepartment of Medical Genetics, Medical School, University of Athens, Athens, Greece; bDivision of Endocrinology, Diabetes and Metabolism, First Department of Pediatrics, Medical School, University of Athens, Athens, Greece; cResearch Institute for the Study of Malignant Diseases in Childhood, University of Athens, Athens, Greece; dFirst Department of Pediatric Surgery, Aghia Sophia Children’s Hospital, Athens, Greece; eEndocrine Unit, Second Department of Obstetrics and Gynecology, Medical School, Athens University, Athens, Greece
hrp0084p3-795
'I am a Boy Since 8-Years-Old': Female During Childhood, Virilization at Puberty
Pediatric Endocrinology Clinic, Goztepe Training and Research Hospital, Istanbul, Turkey
hrp0084p3-798
A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty
aFaculty of Medicine, Department of Pediatric Endocrinology, Katip Celebi University, Izmir, Turkey; bTepecik Training and Research Hospital, Department of Pediatric Endocrinology, Izmir, Turkey; cFaculty of Medicine, Department of Medical Genetics, Ege University, Izmir, Turkey; dDepartment of Pediatrics, Tepecik Training and Research Hospital, Izmir, Turkey
hrp0084p3-799
Gender Reassignment in Muslim Communities
aKing Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia; bKing Khalid University Hospital, Riyadh, Saudi Arabia; cSophia Children’s Hospital/Erasmus MC, Rotterdam, The Netherlands
hrp0084p3-802
A Case of Klinefelter Syndrome with an Atypical Presentation
aMedical Faculty, Pediatric Endocrinology, Erciyes University, Kayseri, Turkey; bKayseri Training and Research Hospital, Kayseri, Turkey
hrp0084p3-803
Patient with Primary Amenorrhea and Glomerular Nephropathy
aEndocrinology, Diabetology & Metabolism, Department of Internal Medicine, University Hospital (CHUV), Lausanne, Switzerland; bNephrology, Department of Internal Medicine, University Hospital (CHUV), Lausanne, Switzerland; cDepartment of Gynecology & Obstetrics, University Hospital (CHUV), Lausanne, Switzerland; dInstitut of Pathology, University Hospital (CHUV), Lausanne, Switzerland
hrp0084p3-805
The Advent of Disorders of Sexual Differentiation Team at a Major Teaching Nigeria: Impact on Patient Management and Outcome
aDepartment of Paediatrics, University College Hospital, Ibadan, Nigeria; bDepartment of Paediatric Surgery, University College Hospital, Ibadan, Nigeria; cDepartment of Psychiatry, University College Hospital, Ibadan, Nigeria; dDepartment of Radiology, University College Hospital, Ibadan, Nigeria; eDepartment of Obstetrics and Gynaecology, University College Hospital, Ibadan, Nigeria
hrp0084p3-806
An Interesting Case of a Phenotypic Female with a 46,XY Karyotype, Uterus and Menstruation
Icahn School of Medicine at Mount Sinai, New York, NY, USA
hrp0084p3-807
Characteristic of Children with Mixed Gonadal Dysgenesis
aState Center for Medical Rehabilitation, Minsk, Belarus; bState Medical University, Mins, Belarus
hrp0084p3-808
A 19-Year-Old Adolescent with Short Stature and Scrotal Tumour
Ostschweizer Kinderspital, St Gallen, Switzerland
hrp0084p3-809