Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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Dublin, Ireland; 18-20 September 2014. Further information

hrp0082p1-d1-231 | Thyroid | ESPE2014

The Association between rs4684677 T/A Polymorphism in Preproghrelin Gene And predisposition to Autoimmune Thyroid Diseases in Children*

Bosswski Artur , Moniuszko Anna , Wawrusiewicz-Kurylonek Natalia , Bossowska Anna , Jakubowska Ewa , Kretowski Adam

Background: Ghrelin and obestatin are two gastrointestinal peptides obtained by post-translational processing of a common precursor, preproghrelin. mRNA expression for preproghrelin was found in autoimmune thyroid diseases (AITDs) in previous studies. There are papers, where a role of preproghrelin polymorphism on various immunological diseases was determined, but nothing is known about its influence on the AITDs.Objective and hypotheses: The aim of our ...

hrp0082p1-d1-232 | Thyroid | ESPE2014

Chosen Polimorphisms in FoxP3 Gene in Children and Adolescents with Autoimmune Thyroid Diseases

Bossowski Artur , Borysewicz-Sanczyk Hanna , Wawrusiewicz-Kurylonek Natalia , Szalecki Mieczyslaw , Wikiera Beata , Barg Ewa , Mysliwiec Malgorzata , Kucharska Anna , Bossowska Anna , Goscik Joanna , Ziora Katarzyna , Gorska Maria , Kretowski Adam

Background: Forkhead box P3 (Foxp3) is an important regulatory factor for the development and function of T regulatory cells (Tregs). Moreover it has been established that deficiency of the Foxp3 gene in Treg cells suppresses their regulatory function leading to the development of autoimmune diseases especially autoimmune thyroid diseases (AITDs).Objective and hypotheses: The aim of our study was to estimate the association of three polymorphism of FOXP3...

hrp0082p1-d1-233 | Thyroid | ESPE2014

TSH Receptor Gene Variants in Pediatric Patients with Non Autoimmune Hyperthyrotropinemia

Scaglia Paula , Keselman Ana , Papendieck Laura Gruneiro , Papendieck Patricia , Bergada Ignacio , Domene Horacio , Chiesa Ana

Context: Heterozygous mutations in TSH recepter (TSHR) have been described associated with mild TSH resistance characterized by non autoimmune hyperthyrotropinemia (NAH). The prevalence of this condition varies in different reports.Objective: To determine the prevalence of TSHR variants in pediatric NAH.Subjects and methods: Thirty-five non obese unrelated children with NAH (18 girls, aged 1–19 years) were enrolled. A...

hrp0082p1-d1-234 | Thyroid | ESPE2014

Association of Toll-Like Receptor-10 Polymorphisms with Autoimmune Thyroid Disease in Korean Children*

Cho Won Kyoung , Jeon Yeon Jin , Jung In Ah , Kim Shin Hee , Jang Jung-Pil , Choi Eun-Jeong , Jung Min Ho , Kim Tai-Gyu , Suh Byung-Kyu

Background: The Toll-like receptors are germline-encoded receptors that play an essential role in initiating the immune response against pathogens.Objective and hypotheses: We aimed to assess the association of TLRs polymorphism with autoimmune thyroid disease (AITD) in Korean children.Method: We define the polymorphism of TLR10, rs4129009, rs11096956, rs10004195 in 85 Korean AITD (GD=50, HD=35; M=16, F=69, mean age=12.9 3.1 years)...

hrp0082p1-d1-235 | Thyroid | ESPE2014

A Nonsense Thyrotropin Receptor Gene Mutation (R609X) is Associated with Congenital Hypothyroidism and Heart Defects*

Cangul Hakan , Bas Veysel Nijat , Saglam Yaman , Kendall Michaela , Barrett Timothy G , Maher Eamonn R , Aycan Zehra

Background: Congenital hypothyroidism, one of the most important preventable causes of mental retardation, is a clinical condition characterized by thyroid hormone deficiency in newborns.Objective and hypotheses: Congenital hypothyroidism is most often caused by defects in thyroid development leading to thyroid dysgenesis. TSH receptor (TSHR) is the main known gene causing thyroid dysgenesis in consanguineous families with congenital hypothyroidism. In t...

hrp0082p1-d1-236 | Thyroid | ESPE2014

Genome-Wide Promoter Methylation Analysis in Cytologically Indeterminate Thyroid Nodules

Trarbach Ericka B , Shinzato Amanda , Lin Chin J , Marui Suemi , Lerario Antonio M

Background: Differentiating potentially malignant thyroid nodules among those undetermined by cytology avoid unnecessary surgical procedures. Aberrant DNA methylation is ubiquitous in human cancers, including thyroid tumors. Biomarkers based on methylation profiles have been successfully used to diagnose early stage malignancy in many human cancers.Objective and hypotheses: To determine the genome-wide promoter methylation status of cytologically indeter...

hrp0082p1-d1-237 | Thyroid | ESPE2014

Genetic Analysis of the Paired Box Domain Gene in a Cohort of Polish Patients with Primary Congenital Hypothyroidism

Kumorowicz-Czoch Malgorzata , Madetko-Talowska Anna , Dudek Adam , Tylek-Lemanska Dorota

Background: The morphological and biochemical phenotype of Paired Box Domain Gene PAX8 mutation in patients with congenital hypothyroidism (CH) is variable. The contribution of mutations in PAX8 gene in children with CH and dysgenetic or orthotopic thyroid glands still remains a subject of interest of researchers.Objective and hypotheses: This study presents mutational analysis of the PAX8 gene in patients with primary CH.Method: 5...

hrp0082p1-d1-238 | Thyroid | ESPE2014

Homozygous Deletion of The TSHβ Subunit Gene Causes Congenital Secondary Hypothyroidism in a Consanguineous Family of Turkish Descent

Hermanns Pia , Klotz Cherize , Couch Robert , Leonard Norma , Pohlenz Joachim

Background: A 6-week-old male was admitted for investigation of prolonged jaundice. The pregnancy was unremarkable with a normal at term delivery. The neonatal screening was unremarkable. The boy was born to consanguineous parents of Turkish descent.Objective and hypotheses: At presentation serum levels of thyrotropin, T4 and T3 were low and prolactin slightly elevated. Venous TSH was undetectable low. Central hypothyroidism was dia...

hrp0082p1-d1-239 | Thyroid | ESPE2014

Genotype and Phenotype Characterization of a Series of Italian Patients Affected with Idiopatic Central Hypothyroidism

Bonomi Marco , Duminuco Paolo , Salvatoni Alessandro , Maggi Mario , Buzi Fabio , Pilotta Alba , Radetti Giorgio , Beck-Peccoz Paolo , Campi Irene , Schoenmakers Nadia , Joustra Sjoerd , Wit Jan Maarten , Bernard Daniel , Nespoli Luigi , Bozzola Mauro , Persani Luca

Background: Central hypothyroidism (CeH) is a rare thyroid hormone deficiency due to an insufficient stimulation of a normal thyroid gland. Candidate genes for isolated CeH include TSHβ, TRH receptor (TRHR) or IGSF1 genes while the combined pituitary hormone deficits (CPHDs) are the consequence of defects in embryonic pituitary transcription factors or in the prokineticin receptor 2 (PROKR2).Patients series: Here we report nine males (M) and 15 fema...

hrp0082p1-d1-240 | Thyroid | ESPE2014

A Novel Mutation in the TITF1 Gene in a Child with Benign Hereditary Chorea

Patianna Viviana Dora , Predieri Barbara , Garavelli Livia , Fusco Carlo , Madeo Simona Filomena , Bruzzi Patrizia , Iughetti Lorenzo

Introduction: Benign hereditary chorea (BHC) is a rare, autosomal dominant disorder, described as a non-progressive chorea of early onset. BHC can present as single neurologic disorder (13%), brain and thyroid disease (30%) or ‘brain–lung–thyroid syndrome’ with congenital hypothyroidism and neonatal respiratory distress syndrome (50%).Case Report: 18 months old infant was admitted to the Endocrinology Outpatient Clinic with motor dela...

hrp0082p1-d1-241 | Thyroid | ESPE2014

Twin Couples and/or Triplets Discordant for Congenital Hypothyroidism at Birth: the Importance of the Re-screening at 2–4 Weeks of Life

Olivieri Antonella , Medda Emanuela , Cassio Alessandra , Weber Giovanna , Costa Pietro , Calaciura Francesca , Vigone Maria Cristina , Russo Valentina Di , Fazzini Cristina

Background: A high risk of congenital hypothyroidism (CH) has been documented in multiple pregnancies. Over the years special screening procedures for preterm and twin babies (re-screening at 2–4 weeks of life) have been adopted by many screening laboratories worldwide. However, no extensive studies have been performed to verify how many co-twins with negative test at first screening (3–5 days of life) become positive at re-screening, and the utility of a long-term f...

hrp0082p1-d1-242 | Thyroid | ESPE2014

Congenital Hypothyroidism and Tuberous Sclerosis: an Association or a Coincidence?

Gallo Francesco , Conte Pietro , Alfano Rosa Maria , Bulfamante Gaetano , Moramarco Fulvio

Background: Tuberous sclerosis (TS) is a polymorphic, dominantly inherited syndrome caused by an inactivating mutation in tumor suppressor genes, TSC1 or TSC2; they regulate mammalian target of rapamycin (mTOR), a key player in control of cellular growth and protein synthesis. The disease involves benign tumors in several distinct organs (such as the skin, kidneys, heart, and CNS), that can interfere with organ function. Rarely TS is associated with endocrine abnormalities, an...

hrp0082p1-d1-243 | Thyroid | ESPE2014

Evaluation of Serum Cytokines IL-6 and Osteoprotegerin Measurements in the Diagnosis of Chronic Autoimmune Thyroiditis and Graves’ Disease in Children

Mikos Hanna , Mikos Marcin , Niedziela Marek

Background: Chronic autoimmune thyroiditis (cAIT) and Graves’ disease (GD) are the most common autoimmune disorders in children. Proinflammatory cytokine such as IL-6 has been generally associated with the induction of inflammation and autoimmunity. Osteoprotegerin, a soluble glycoprotein and a member of the tumor necrosis factor receptor (TNFR) family, play an important role in bone homeostasis and in vasculature.Objective and hypotheses: The aim o...