Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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

Poster Category 2

Sex Development

46,XY Neonates and Infants with Ambiguous Genitalia: Who to Investigate?
aCenter for Medical Genetics, Ghent University Hospital and Ghent University, Ghent, Belgium; bDepartment of Pediatric Endocrinology, Ghent University Hospital and Ghent University, Ghent, Belgium; cDepartment of Pediatrics and Medical Genetics, University Hospital ‘Sveta Marina’, Varna, Bulgaria; dDepartment of Pediatric Urology, Ghent University Hospital and Ghent University, Ghent, Belgium
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Novel NR5A1 Gene Mutations Associated with 46,XY Disorders of Sex Development
aState University of Campinas, Campinas, Brazil; bCenter of Molecular Biology and Genetic Engineering (CBMEG), Campinas, Brazil; cFaculty of Medical Sciences, Campinas, Brazil
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The Research About sf1 Gene Abnormality in 45 Children with Micropenis
aShanghai Children’s Hospital, Shanghai, China; bShanghai Jiaotong University, Shanghai, China
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A New Mutation of MAMLD1 (CXorf6) Associated with NR5A1 (SF1) Variant in a Patient with 46,XY DSD
aDepartment of Pediatrics, CHU Bab El Oued, Algiers, Algeria; bDepartment of Hormonology, CHRU Montpellier, Montpellier, France; cEPH Gué de constantine, Algiers, Algeria; dEPH Gouraya, Gouraya, Algeria
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46XY, DSD due to 5[alpha]-Reductase Type 2 Deficiency in 19 Chinese Patients
Pediatric Department, The First Affiliated Hospital of Sun Yat-Sen University, GuangZhou, China
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Identification of a Missense MAP3K1 Mutation in a Patient with Hypospadias
aDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan; bDivision of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan; cDepartment of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan; dDepartment of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan
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Mutation Analysis of kdm3a (Lysine-Specific Demethylase 3a) in Patients with Hypospadias
aDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan; bDepartment of Nephro-Urology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan; cDepartment of Urology, Fukushima Medical University School of Medicine, Fukushima, Japan; dDepartment of Renal and Genitourinary Surgery, Hokkaido University Graduate School of Medicine, Sapporo, Japan; eDepartment of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan
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