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55th Annual ESPE

Paris, France
10 Sep 2016 - 12 Sep 2016

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Paris, France: 10-12 September 2016 Further information

hrp0086fc11.1 | Thyroid | ESPE2016

Mutations in TBL1X as a Novel Cause of Familial Central Hypothyroidism

Heinen Charlotte , Losekoot Monique , Sun Yu , Watson Peter , Fairall Louise , Joustra Sjoerd , Zwaveling-Soonawala Nitash , Oostdijk Wilma , van den Akker Erica , Santen Gijs , van Rijn Rick , Dreschler Wouter , Surovtseva Olga , Biermasz Nienke , Hennekam Raoul , Wit Jan , Schwabe John , Boelen Anita , Fliers Eric , van Trotsenburg Paul

Background: Congenital central hypothyroidism (CeH) may occur isolated, or in combination with other pituitary hormone deficiencies. Although a third causative gene for CeH was recently reported (IGSF1), the aetiology of isolated CeH has remained unexplained in most cases.Objective and hypotheses: We hypothesized that in three relatives with unexplained isolated CeH a mutation in another gene might be responsible for the phenotype.<p class="...

hrp0086fc11.2 | Thyroid | ESPE2016

Overexpression of DYRK1A Located in the Down Syndrome Critical Region, Leads to Primary Hypothyroidism in Down Syndrome through Interaction with FOXE1

Kariyawasam Dulanjalee , Carre Aurore , Rachdi Latif , Polak Michel

Background: Down Syndrome (DS) patients have a higher incidence of primary hypothyroidism. We previously demonstrated that transgenic mice overexpressing Dyrk1A had developmental (larger primary thyroids at E15.5 stage of development), morphological (disorganized follicles) and functional (significant lower plasma T4) impairments similar to DS thyroidal impairments (Endocrinology 2015). DYRK1A, localized in the DS critical region on chromosome 21, is therefore the can...

hrp0086fc11.3 | Thyroid | ESPE2016

Genetic Heterogeneity Revealed by WES in a Cohort of Patients with Brain-Lung-Thyroid Syndrome

Stoupa Athanasia , Kariyawasam Dulanjalee , Gueriouz Manelle , Malan Valerie , Fanen Pascale , Nitschke Patrick , Zarhrate Mohammed , Bole-Feysot Christine , Besmond Claude , Polak Michel , Carre Aurore

Background: Brain-Lung-Thyroid (BLT) syndrome (OMIM# 610978) is characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS), and benign hereditary chorea and is caused by thyroid transcription factor 1 (NKX2-1/TTF1) haploinsufficiency. The phenotype can be partial or complete and there is a large phenotypic variability.Objectives and hypotheses: Identify new genes in a selected group of patients presenting thyroi...

hrp0086fc11.4 | Thyroid | ESPE2016

Decreased Proportions of CD4+IL17+/CD4+CD25+CD127− and CD4+IL17+/CD4+CD25+CD127-FoxP3+T Cells in Children with Autoimmune Thyroid Diseases

Bossowski Artur , Moniuszko Marcin , Grubczak Kamil , Snight Paulina , Bossowska Anna , Diana Tanja , Kahaly George

Background: Until now, altered balance of Th1 and Th2 immune cells has been postulated to play an important role in the pathogenesis of autoimmune thyroid diseases (AITD). However, recent studies on thyroid diseases have suggested a new role for Th17 cells that have been classified as a new lineage, distinct from Th1, Th2 and Treg cells. Despite wide interest, the role of Th17 cells in the pathogenesis of inflammatory and autoimmune diseases is still debated.<p class="abst...

hrp0086fc11.5 | Thyroid | ESPE2016

Pediatric Reference Values of Thyrotropin (TSH) should be Personalized According to Child Characteristics

Meyerovitch Joseph , Feldhamer Ilan , Manor Mira , Oron Tal

Background: Primary care pediatricians (PCPs) use thyroid function tests (TFT) as screening tests in children and adolescents with various health complaints. Thus, it is crucial to evaluate the results according to appropriate cut-offs individualized to the child characteristics. Such references values, which are missing in the pediatric age group, are needed for proper evaluation of the thyroid functions.Objective and hypotheses: To determine normal TSH...

hrp0086fc11.6 | Thyroid | ESPE2016

Too many TFTs? A Change in Neonatal Thyroid Function Testing in a Peripheral Hospital in Ireland

Collins Aedin , Geoghegan Aisling , Johnston Niall , Carroll Aoife , Fitzsimons John

Background: Thyroid disorders in the neonatal period can have serious consequences for growth and development. Neonatal bloodspot screening identifies congenital hypothyroidism. Current guidelines both internationally and in tertiary centres in Ireland have moved towards checking thyroid function tests (TFTs) solely in infants of mothers with hyperthyroidism and those identified on neonatal bloodspot screening. The practice in OLOLH, Ireland was that all infants of mothers wit...