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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

hrp0084fc13.1 | Thyroid | ESPE2015

Gain of Function STAT3 Mutation in a Boy with Early Onset Autoimmune Diabetes and Thyroid Disease, Prenatal and Postnatal Growth Impairment and Lymphoproliferation

Sediva Hana , Dusatkova Petra , Dusatkova Lenka , Sumnik Zdenek , Kolouskova Stanislava , Pruhova Stepanka , Lebl Jan

Background: Recently, a new monogenic cause of multiple immune system disorders and short stature has been attributed to germline activating mutations in the STAT3 gene encoding signal transducer and activator of transcription 3. Possible pathophysiological mechanisms include enhanced proliferation and activation of T-helper 17 cells and inhibition of regulatory T-cells by STAT3, as described in in vitro studies.Case presentation: The a...

hrp0084fc13.2 | Thyroid | ESPE2015

Analysis of Chosen Polymorphisms rs2476601 A/G – PTPN22, rs1990760 C/T – IFIH1, rs179247 A/G – TSHR in Pathogenesis of Autoimmune Thyroid Diseases in Children

Goralczyk Aleksandra , Goscik Joanna , Wawrusiewicz-Kurylonek Natalia , Bossowska Anna , Kretowski Adam , Bossowski Artur

Background: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of the protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene, the interferon induced helicase domain 1 (IFIH1) gene, the TSH receptor (TSH-R) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective and hypotheses: To estimate the association...

hrp0084fc13.3 | Thyroid | ESPE2015

Targeted Next-Generation Sequencing Demonstrates High Frequency of ‘Dyshormonogenesis Genes’ Mutations in Severe Congenital Hypothyroidism

Makretskaya Nina , Bezlepkina Olga , Kolodkina Anna , Kiyaev Alexey , Vasilyev Evgeny , Petrov Vasily , Kalinenkova Svetlana , Duhoreva Olga , Malievsky Oleg , Dedov Ivan , Tiulpakov Anatoly

Background: 80–85% of cases of congenital hypothyroidism (CH) are shown to be due to thyroid dysgenesis, while 15–20% are due to dyshormonogenesis. At least 12 candidate genes are associated with congenital hypothyroidism (CH), however its molecular basis is defined in fewer than 10% of the patients (ESPE consensus, 2014). Recent studies suggest that using a next generation sequencing (NGS) approach may increase the mutation yield in CH.Objecti...

hrp0084fc13.4 | Thyroid | ESPE2015

Effects of Initial Levothyroxine Dose on Growth and Neurodevelopmental Outcomes During the First Year of Life in Children with Congenital Hypothyroidism

Esposito Andrea , D'Onofrio Gianluca , Cassio Alessandra , Corrias Andrea , Gastaldi Roberto , Vigone Maria Cristina , Wasniewska Malgorzata Gabriela , Weber Giovanna , Salerno Mariacarolina

Background: An important issue in the management of congenital hypothyroidism (CH) is the best initial dose of levothyroxine (L-T4) in order to achieve optimal neurocognitive outcomes. Both European and American guidelines suggest an initial dose of 10–15 μg/kg per die but trials on long-term effects of different doses within this range are lacking.Objective and hypotheses: This was a multicenter randomized trial to ev...

hrp0084fc13.5 | Thyroid | ESPE2015

Effect of 2 Years of Treatment with Levothyroxine on Cardiovascular Risk Factors in Children with Mild Idiopathic Subclinical Hypothyroidism

Cerbone Manuela , Wasniewska Malgorzata , Alfano Sara , Capalbo Donatella , Di Mase Raffaella , Improda Nicola , De Luca Filippo , Salerno Mariacarolina

Background: The benefits of levothyroxine (L-T4) therapy in subjects with mild SH (TSH between 5 and 10 mU/l with normal FT4 values) are controversial. Current recommendations in adults suggest to start on treatment selected groups of subjects with mild SH and evidence of atherosclerotic CV disease. Data in children are lacking.Objective and hypotheses: To investigate the effect of L-T4 treat...

hrp0084fc13.6 | Thyroid | ESPE2015

TRIAC Treatment of Allan-Herndon-Dudley Syndrome (AHDS) due to Defects in Thyroid Hormone Transporter MCT8

Iglesias A , Gomez-Gila A L , Casano P , del Pozo J , de Mingo M C , Pons N , Calvo F , Obregon M J , Bernal J , Moreno J C

Background: AHDS is a devastating disease caused by defects in the thyroid hormone (TH) transporter MCT8. Endocrine expression is heralded by systemic hyperthyroidism with elevated serum T3, mildly increased TSH and decreased T4. However, the brain is hypothyroid, causing severe psychomotor retardation. Therapeutic attempts with PTU+levothyroxine or the T3-analogue DITPA could normalize TH derangements but without any neurological improvement. ...