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ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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Dublin, Ireland; 18-20 September 2014. Further information

Poster Category 3

Sex Development

Discordant Genotypic Sex and Concordant Phenotypes in Two Spanish Siblings with 17[alpha]-Hydroxylase/17, 20-Lyase Deficiency Carrying the Most Prevalent Mutated Alleles in Brazilian Patients
aPaediatric Endocrinology Unit, Vall d’Hebron Research Institute and Hospital, CIBERER, Autonomous University, Barcelona, Spain; bPaediatric Service, Hospital Virgen del Rocío, Sevilla, Spain
hrp0082p3-d1-952
The Development of Gonadoblastoma in a 3-Year-Old Girl with 46,Xdel(Y)p11.3, Gonadal Dysgenesis and Associated Congenital Anomalies
aDepartment of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, 2nd Chair of Pediatrics, Poznan, Poland; bMolecular Endocrinology Laboratory, Department of Pediatric Endocrinology and Rheumatology, Poznan University of Medical Sciences, Poznan, Poland; cDepartment of Pathomorphology, Gynecology and Obstetrics, Clinical Hospital, Poznan, Poland; dChair and Department of Pediatric Surgery, Traumatology and Urology, Poznan University of Medical Sciences, Poznan, Poland; eDepartment of Medical Genetics, Center for Medical Genetics GENESIS, Poznan University of Medical Sciences, Poznan, Poland; fDepartment of Gynecology, Poznan University of Medical Sciences, Chair of Perinatology and Gynecology, Poznan, Poland
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46,XX DSD: Bilateral Ovotestis with SOX9
aSan Raffaele Scientific Institute, Milan, Italy; bUniversity of Pavia, Pavia, Italy
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Severe Undervirilisation in a 46,XY Case due to a Novel Mutation in HSD17B3 Gene
aDepartment of Pediatric Endocrinology, Hacettepe University, Ankara, Turkey; bDivision of Pediatric Endocrinology and Diabetes, University of Lübeck, Lübeck, Germany
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Gonadoblastoma and Papillary Tubal Hyperplasia in Ovotesticular Syndrome
Eskisehir Osmangazi University School of Medicine, Eskisehir, Turkey
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5[alpha]-Steroid Reductase 2 Deficiency in a Large Family
aPediatric Endocrinology, Cukurova University, Adana, Turkey; bDepartment of Pediatric Endocrinology, Adana Numune Training Hospital, Adana, Turkey
hrp0082p3-d1-957
17[beta]HSD-3 Enzyme Deficiency in Newborn Due to a Novel Mutation in HSD17B3 Gene
aPediatric Endocrinology Clinic, Dr. Sami Ulus Obstetrics and Gynecology, Children’s Health and Diseases Training and Research Hospital, Ankara, Turkey; bIntergen Genetic Disease Diagnostic Center, Ankara, Turkey
hrp0082p3-d1-958
Partial Androgen Insensitivity Syndrome in a Boy with Inactivating Androgen Receptor Mutation and Somatic Mosaicism
aInstitute of Biomedicine/Physiology, Helsinki, Finland; bChildren’s Hospital, Tampere University Central Hospital, Tampere, Finland; cChildren’s Hospital, Helsinki University Central Hospital, Helsinki, Finland
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Clinical Characteristics of 30 Patients with 45,X/46,XY Mosaicism
Pediatric Endocrinology Unit, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
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46,XY Female with Turner Syndrome, Crohn's Disease and Low Level Mosaicism for Monosomy X
aDepartment of Pediatric Endocrinology, Children’s Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA; bDepartment of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA; cDepartment of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA
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