ESPE Abstracts

ESPE Abstracts

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55th Annual ESPE (ESPE 2016)

Paris, France
10 Sep 2016 - 12 Sep 2016

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Paris, France: 10-12 September 2016 Further information

Poster Presentations

Endocrinology and Multisystemic Diseases P1

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Endocrinology and Multisystemic Diseases P2

hrp0086p1-p688 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Thyrotoxicosis, Nephrogenic Syndrome of Inappropriate Antidiuresis, Tall Stature and Mental Retardation Caused by a Novel GNAS Gain of Function Mutation

Houang Muriel , Kottler Marie-Laure , Bensman Albert , Haymann Jean-Philippe , Richard Nicolas , Dunand Olivier , Bastepe Murate , Silve Caroline , Coudray Nathalie , Netchine Irene , Linglart Agnes

Background: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a very rare clinical condition. Patients suffer from hyponatremia, hypo-osmolality with inappropriately elevated urinary osmolality and undetectable AVP levels. Activating mutations of AVPR2, the vasopressin receptor type 2 (V2R), induce a prolonged signaling of the intracellular cAMP/PKA pathway and cause NSIAD in patients.Objective and hypotheses: To describe a new phenotype in a...
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hrp0086p1-p689 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Novel Germline Mutations in DICER1 Gene in Patients with Different Pediatric Hereditary Tumors

Marino Roxana , Galeano Jesica , Ramirez Pablo , Garrido Natalia Perez , Vaiani Elisa , Costanzo Mariana , Herzovich Viviana , Dujovne Noelia , Lubieniecki Fabiana , De la Rosa Laura , Obregon Gabriela , Chantada Guillermo , Aurelio Marco Rivarola , Belgorosky Alicia

Background: Carriers of germline DICER1 mutations are predisposed to a rare cancer syndrome, the DICER1 syndrome, associated with tumors such as pleuropulmonary blastoma (PPB), ovarian Sertoli-Leydig cell tumors (SLCT), multinodular goiter (MNG), cystic nephroma (CN), embryonal rhabdomyosarcoma (ERMS) or primitive neuroectodermic tumor. DICER1 is involved in the generation of microRNAs (miRNAs), short, double-stranded, non-coding RNAs that modulate gene expression at ...
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hrp0086p1-p690 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Fludrocortisone: A Treatment for Tubulopathy Post Paediatric Renal Transplantation – A Scottish Study

Rashid Salma , Athavale Deepa , Shaikh M Guftar

Background: Post renal transplantation, tubulopathies may occur as an effect of transplantation itself or secondary to the use of immunosuppressive regimes. This often requires administration of large doses of sodium bicarbonate and sodium chloride, resulting in poor compliance. Adult studies have shown the advantages of fludrocortisone in the treatment of severe tubulopathies post renal transplant. There is limited data in children. We report our experience from a tertiary pa...
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hrp0086p1-p691 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Neonatal Diabetes and Congenital Hypothyroidism, a Rare Condition: Report of 2 Cases with Different Genetic Causes

Mendoza Carolina , Garfias Carolina , Seiltgens Cristian , Silva Ricardo , Hodgson Isabel , Ugarte Francisca , Flanagan Sarah , Ellard Sian , Garcia Hernan

Background: Neonatal diabetes (ND) is a rare monogenic form of diabetes presenting within the first six months of life. The most frequent causes include mutations in KCNJ11, ABCC8 and insulin genes, but up to 40% of patients remain without a molecular genetic diagnosis.Case presentation: Case 1: a female newborn of non-consanguineous parents, born at 35 weeks, SGA. She presented with hyperglycemia at second day of life...
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hrp0086p1-p692 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Access to Medicines in Pediatric Endocrinology and Diabetes in Africa: Insights from the WHO and National Lists of Essential Medicines

Rowlands Amanda , Mukhwana Renson , Dipesalema Joel , Chanoine Jean-Pierre

Background: Access to essential medicines remains suboptimal in Africa. The World Health Organisation (WHO) maintains two non-binding essential medicine lists (EML) (for children and for adults). Individual countries refer to these lists to prepare national EMLs.Objective and hypotheses: To determine which medicines commonly used in pediatric endocrinology and diabetes are included in the WHO and national EMLs in the WHO African region. We hypothesize th...
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hrp0086p1-p693 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Is it Cautious to Wait for Serum Basal Calcitonin Levels Rise in Patients with Ret Codon C634 Mutation?

De Leon Esther Gonzalez Ruiz , Fernandez Maria Sanz , Sanchez Amparo Rodriguez , Palanca Javier Menarguez , Arnao M. Dolores Rodriguez

Background: 2015 ATA Guidelines for management of medullary thyroid cancer (MTC) include C634 RET codon mutation in ‘High risk’ group, recomendating prophylactic thryroidectomy before 5 years old based on serum basal calcitonin levels (SBCt).Objective and hypotheses: We present 14 pediatric patients with C634 RET codon mutation, who underwent prophylactic thyroidectomy in our center, their clinical and analytical features and anatomopathologica...
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hrp0086p1-p694 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Abstract withdrawn....
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hrp0086p1-p695 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

CANDLE Syndrome: A New Autoinflammatory Lipodystrophic Disorder with Challenging Diagnosis and Limited Therapeutic Options

Boyadzhiev Martin , Boyadzhiev Veselin , Marinov Luchezar , Iotova Violeta

Background: We present a 3 years old boy born on term from young non-consanguineous parents with negative family history. Shortly after birth swelling of the feet and multiple generalised erythematous cutaneous plaques and nodules gradually appeared. Recurrent fever attacks, hepatosplenomegaly, significant growth delay (height – 4.0 S.D.) and progressive loss of subcutaneus fat tissue followed.Objective and hypotheses: Laboratory inve...
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hrp0086p1-p696 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Variable Phenotype and Genetic Findings in a Cohort of Patients with Pseudohypoparathyroidism

Makazan Nadezhda , Orlova Elizaveta , Kareva Maria , Kalinchenko Natalia , Tozliyan Elena , Dedov Ivan , Peterkova Valentina

Background: Pseudohypoparathyroidism is a group of rare disorders characterized by tissue insensitivity to PTH and Albright hereditary osteodystrophy (AHO) due to inactivating mutations or epigenetic defects of the GNAS.Objective and hypotheses: Clinical features and molecular characteristics of patients with PHP have been examined.Method: We included 28 patients from 26 families with PHP1a and 1b. GNAS mutation analysis w...
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hrp0086p1-p697 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Contiguous Gene Syndrome Involving DAX1 Deletion with Congenital Adrenal Insufficiency

Dafsari Roschan Salimi , Haas Dorothea , Leube Barbara , Eichhorn Joachim G. , Mayatepek Ertan , Meissner Thomas , Kummer Sebastian

Background: In contrast to monogenic diseases, contiguous gene syndrome (CGS) describes a clinical phenotype caused by a deletion or duplication of several neighbouring genes. Angelman or Williams-Beuren syndrome are examples demonstrating that deletion of several adjacent genes causes a complex clinical syndrome. However, CGS are very rare events in pediatric endocrinology, and require knowledge of clinical associations pointing towards specific potentially affected genes in ...
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hrp0086p1-p698 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Clusters of Autoinmune Diseases in Children

Seiltgens Cristian , Iruretagoyena Mirentxu , Melendez Patricia , Ponce Maria Jesus , Talesnik Eduardo , Mendez Cecilia , Godoy Claudia , Martinez-Aguayo Alejandro , Hogdson Isabel , Harris Paul , Gana Juan Carlos , Riera Francisca , Garcia Hernan , Cattani Andreina , Borzutzky Arturo

Background: Autoimmune diseases (AIDs) have familial aggregation and frequently share a common genetic background, but few studies have evaluated autoimmune clusters in children with AIDs and their families.Objective and hypotheses: To identify clusters of AIDs in children and their first-degree relatives.Method: A cross-sectional study was performed in subjects with an AID of pediatric onset (<18 years) recruited at Pediatric ...
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hrp0086p1-p699 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Role of PTPN22 C1858T Gene Polymorphism in Pediatric Polyautoimmunity

Seiltgens Cristian , Cristi Francisca , Iruretagoyena Mirentxu , Perez-Mateluna Guillermo , Talesnik Eduardo , Hogdson Isabel , Martinez-Aguayo Alejandro , Borzutzky Arturo

Background: Children with more than one AID (pediatric polyautoimmunity) may have a stronger genetic component than children with a single AID. PTPN22 C1858T SNP has been associated with multiple different AIDs in adults and children.Objective and hypotheses: Evaluate the association of PTPN22 C1858T gene polymorphism with pediatric polyautoimmunity.Method: A cross-sectional study was performed in subjects with an AID of p...
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