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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


New Mutation Causing Systemic Pseudohypoaldosteronism
aUnit of Endocrinology and Diabetes, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy; bDepartement de Génétique, Hôpital Européen Georges Pompidou, Paris, France; cDepartment of Women’s and Children’s Health, Karolinska Institutet, Stockholm, Sweden
Rapid Molecular Diagnosis of CAH by Strip Hybridisation Assay in DEMPU
aFaculty of Medicine, Clinical and Chemical Pathology Department, Cairo University, Cairo, Egypt; bFaculty of Medicine, Pediatric Department, The Diabetes Endocrine and Metabolism Pediatric Unit (DEMPU), Cairo University, Cairo, Egypt
CYP11B1 Gene Mutations in Patients with Congenital Adrenal Hyperplasia in Turkey
aIstanbul Faculty of Medicine, Department of Pediatrics, Pediatric Endocrinology Unit, Istanbul University, Istanbul, Turkey; bDivision of Pediatric Endocrinology, Northeast Ohio Medical University, Akron Children’s Hospital, Akron, OH, USA; cIstanbul Faculty of Medicine, Department of Medical Genetics, Istanbul University, Istanbul, Turkey; dAdrenal Steroid Disorders Program, Mount Sinai School of Medicine, New York, NY, USA
Adrenal Atrophy Secondary to Inappropriate Oral Administration of Exogenous Steroid Presenting with Hypercalcaemia
aPediatric Endocrinology Clinic, Goztepe Training and Research Hospital, Istanbul, Turkey; bRadiology Clinic, Gooztepe Training and Research Hospital, Istanbul, Turkey
Case Report: Hypothyroidism and Acth-Deficiency Caused by TBX 19 Mutation Coincidence or Pathogenetic Correlation?
aAltonaer Children’s Hospital, Hamburg, Germany; bDepartment of Paediatrics, Hamburg University Medical Centre, Hamburg, Germany; cDivison of Paediatric Endocrinology and Diabetes, University Hospital of Schleswig – Holstein, Campus Kiel, Kiel, Germany
Deletion Mapping in Xp21 for a Family with Complex Glycerol Kinase Deficiency Using Array-Based Comparative Genomic Hybridisation
aDepartment of Endocrine and Inherited Metabolic Diseases, Children’s Hospital of Fudan University, Shanghai, China; bPediatric Research Institute, Children’s Hospital of Fudan University, Shanghai, China
Characterisation of Ovarian Adrenal Rest Tumours in Children and Adolescent Females with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
aShenzhen Children’s Hospital, Shenzhen, China; bHospital of Sun YatSen University, Guangzhou, China
Atypical Prednisone-Metabolism: Pharmacological Studies in a Boy with Classical Adrenal Hyperplasia and Suspected Malcompliance
aDepartment of Paediatric Endocrinology/Diabetology, Basel, Switzerland; bUniversity Clinic for Nephrology, Hypertension and Clinical Pharmacology, University Hospital, Bern, Switzerland
X-Linked Adrenoleucodystrophy Presenting as Addison's Disease in Childhood: A Case Report
aII Clinica Pediatrica, Ospedale Microcitemico, Cagliari, Italy; bLaboratory of Endocrine and Metabolic Research, Istituto Auxologico Italiano, Milano, Italy; cDipartimento di Sanita’ Pubblica, Laboratory Biologia Molecolare, Medicina Clinica e Molecolare, Cagliari, Italy
Three Siblings with Corticosterone Methyloxidase Deficiency Type 2 due to c.1175T[gt]C Mutation +a Novel c.788T[gt]A Mutation in CYP11B2 Gene
aPediatric Endocrinology Department, Cerrahpasa Medical School, Istanbul, Turkey; bIntergen Genetics Center, Ankara, Turkey
Remission with Cabergolin with Recurrent Hypercortisolism after Pituitary Surgery in Cushing's Disease
aDepartment of Pediatric Endocrinology, Ege University, Izmir, Turkey; bDepartment of Neurosurgery, Ege University, Izmir, Turkey; cDepartment of Radiology, Ege University, Izmir, Turkey
Phaeochromocytoma in Placental Mesenchymal Dysplasia: Who Should We Screen and for How Long?
aDepartment of Endocrinology & Diabetes, The Royal Children’s Hospital, Parkville, Melbourne, VIC, Australia; bDepartment of Paediatric and Adolescent Endocrinology and Diabetes, Monash Health, Clayton, Melbourne, VIC, Australia; cVCGS Clinical Services, The Royal Children’s Hospital, Parkville, Melbourne, VIC, Australia
A Double Dose of Triples
aCare Hospital, Hyderabad, India; bNizam’s Institute of Medical Sciences, Hyderabad, India
Central Cortisol Deficiency (Isolated ACTH Deficiency) in a Child
aHamad Medical Hospital, Doha, Qatar; bAlexandria University, Alexandria, Burundi
The First Case of Primary Generalized Glucocorticoid Resistance in Serbia in an 8-Year-Old Boy with G679S Mutation of the NR3C1 Gene
aMother and Child Healthcare Institute of Serbia, Belgrade, Serbia; bMedical Faculty University of Belgrade, Belgrade, Serbia
A Case of Phaeochromocytoma Diagnosed as Adrenal Incidentaloma
Ankara Research and Training Hospital, Ankara, Turkey
Familial Hyperaldosteronism Type 1 in an Infant without Hypertension: How Important Could be the Early Treatment with Hydrocortisone?
aDivision of Pediatrics, Pontificia Universidad Católica de Chile, Santiago de Chile, Chile; bDepartments of Endocrinology, Pontificia Universidad Católica de Chile, Santiago de Chile, Chile; cEndocrinology Unit, Complejo Asistencial Hospital Dr Sótero del Río, Santiago de Chile, Chile; dDepartment of Molecular Genetics and Microbiology, Millennium Institute on Immunology and Immunotherapy, Pontificia Universidad Católica de Chile, Santiago de Chile, Chile
Homozygosity for a Mutation in the CYP11B2 Gene and GH Deficiency in a Child with Severe Growth Delay
aUniversitary Department Pro.Sa.M.I. ‘G. D’Alessandro’, University of Palermo, Palermo, Italy; bAzienda Ospedaliera Ospedali Riuniti Villa Sofia-Cervello, Palermo, Italy
A Prospective Evaluation of Anthropometric and Metabolic Profile Premature Adrenarche Patients
aKocaeli University Pediatric Endocrinology, Kocaeli, Turkey; bKocaeli University Pediatrics, Kocaeli, Turkey
The Prevalence of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency among Children 0-18-Years-Old in Ukraine
aUkrainian Scientific and Practical Center of Endocrine Surgery, Transplantation of endocrine organs and tissues of the Ministry of Health of Ukraine, Kiev, Ukraine; bNational Children’s Specialized Hospital Okhmatdet, Kiev, Ukraine
Methodological Considerations into the Approach for Genetic Diagnostics of Congenital Adrenal Hyperplasia in a Girl with SW Form and Relatively Higher Needs of Mineral Corticoids
aUniversity Pediatric Hospital – Medical University Sofia, Sofia, Bulgaria; bDepartment of Medical Chemistry, Biochemistry-Medical University Sofia, Sofia, Bulgaria; cUniversity Hospital Plovdiv, Plovdiv, Bulgaria
11[beta]-Hydroxylase Deficiency: 20 Years Follow-Up
aPediatric Endocrinology Clinic, Goztepe Education and Research Hospital, Istanbul, Turkey; bMedical Faculty, Amasya University, Amasya, Turkey
Late Diagnosis of Childhood Adrenal Insufficiency and Hypogonadotropic Hypogonadism due to DAX 1 Gene Mutation
aMitera Children’s Hospital, Athens, Greece; bAghia Sophia Children’s Hospital, Athens, Greece
Paraaortical Paragangliomas as Incidental Findings in a Female Adolescent
aFourth Department of Pediatrics, Medical School, Aristotle University of Thessaloniki, Papageorgiou General Hospital, Thessaloniki, Greece; bLaboratory of Nuclear Medicine, Medical School, Aristotle University of Thessaloniki, Papageorgiou General Hospital, Thessaloniki, Greece; cLaboratory of Radiology, Papageorgiou General Hospital, Thessaloniki, Greece; dLaboratory of Pathological Anatomy, Papageorgiou General Hospital, Thessaloniki, Greece
Conservative Treatment Allows Substantial Improvement of Neonatal Cushing Syndrome in McCune Albright Syndrome, a 2 Year Follow-up
aUniversity Medical Center Utrecht, Utrecht, The Netherlands; bUniversity Medical Center Nijmegen, Nijmegen, The Netherlands
A Rare Cause of Hypertension: Pseudophaeochromocytoma
Medical Faculty, Pediatric Endocrinology, Erciyes University, Kayseri, Turkey
Prenatal Treatment of Congenital Adrenal Hyperplasia: A Survey of Paediatric Endocrinologist
aComplejo Hospitalario de Navarra, Pamplona, Spain; bH. San Agustin, Avilés, Spain; cH. Zumarraga, Guipúzcoa, Spain; dH. General de Granollers, Barcelona, Spain; eH. Clínico Universitario, USC, IDIS, Santiago de Compostela, Spain; fH. Universitario Araba, Vitoria, Spain; gH. Universitario del Henares, Madrid, Spain; hH. Sant Joan de Déu, Manresa, Spain; iH. Infantil Universitario Niño Jesús, Madrid, Spain; jPius Hospital de Valls, Valls, Spain
A Case of ACTH Resistance with Generalized Hyperpigmentation at Birth
aDepartment of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan; bDepartment of Pediatrics, Keio University School of Medicine, Tokyo, Japan; cDepartment of Pediatrics, St Mary’s Hospital, Kurume, Japan
Clinical and Genotypic Characterization of Simple Virilising Forms of Congenital Adrenal Hyperplasia
aCoimbra Pediatric Hospital, CHUC, Coimbra, Portugal; bFernando Fonseca Hospital, Lisbon, Portugal
Exogenous Cushing's Syndrome due to Misuse of Topical Corticosteroid Therapy
Clinic of Paediatrics, Diabetology and Endocrinology Medical University of Gdansk, Gdansk, Poland