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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

Adrenals

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
hrp0084p3-581
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
hrp0084p3-582
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
hrp0084p3-584
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
hrp0084p3-587
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
hrp0084p3-588
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
hrp0084p3-589
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
hrp0084p3-590
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
hrp0084p3-592
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
hrp0084p3-594
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
hrp0084p3-595
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
hrp0084p3-598
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
hrp0084p3-599
A Double Dose of Triples
aCare Hospital, Hyderabad, India; bNizam’s Institute of Medical Sciences, Hyderabad, India
hrp0084p3-600
Central Cortisol Deficiency (Isolated ACTH Deficiency) in a Child
aHamad Medical Hospital, Doha, Qatar; bAlexandria University, Alexandria, Burundi
hrp0084p3-601
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
hrp0084p3-602
A Case of Phaeochromocytoma Diagnosed as Adrenal Incidentaloma
Ankara Research and Training Hospital, Ankara, Turkey
hrp0084p3-603
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
hrp0084p3-606
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
hrp0084p3-607
A Prospective Evaluation of Anthropometric and Metabolic Profile Premature Adrenarche Patients
aKocaeli University Pediatric Endocrinology, Kocaeli, Turkey; bKocaeli University Pediatrics, Kocaeli, Turkey
hrp0084p3-608
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
hrp0084p3-609
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
hrp0084p3-611
11[beta]-Hydroxylase Deficiency: 20 Years Follow-Up
aPediatric Endocrinology Clinic, Goztepe Education and Research Hospital, Istanbul, Turkey; bMedical Faculty, Amasya University, Amasya, Turkey
hrp0084p3-612
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
hrp0084p3-614
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
hrp0084p3-615
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
hrp0084p3-617
A Rare Cause of Hypertension: Pseudophaeochromocytoma
Medical Faculty, Pediatric Endocrinology, Erciyes University, Kayseri, Turkey
hrp0084p3-620
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
hrp0084p3-622
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
hrp0084p3-623
Clinical and Genotypic Characterization of Simple Virilising Forms of Congenital Adrenal Hyperplasia
aCoimbra Pediatric Hospital, CHUC, Coimbra, Portugal; bFernando Fonseca Hospital, Lisbon, Portugal
hrp0084p3-624
Exogenous Cushing's Syndrome due to Misuse of Topical Corticosteroid Therapy
Clinic of Paediatrics, Diabetology and Endocrinology Medical University of Gdansk, Gdansk, Poland
hrp0084p3-626