Searchable abstracts of presentations at key conferences in endocrinology

ea0056p1149 | Thyroid cancer | ECE2018

The mitochondrial DNA control region might have useful diagnostic and prognostic biomarkers for thyroid tumors

Bircan Rifat , Gozu Hulya Iliksu , Ulu Esra , Sarikaya Sukran , Sirin Duygu Yasar , Ozcelik Serhat , Aral Cenk

Background: It is currently present in the literature that mitochondrial DNA (mtDNA) defects are associated with a great number of diseases including cancers. The role of mitochondrial DNA (mtDNA) mutations/variations in the development of thyroid cancers is a highly controversial topic. In this study, we aimed to investigate the role of mt-DNA control region (CR) variations in thyroid tumor occurrence and the influence of mtDNA haplogroups on susceptibility t...

ea0014p346 | (1) | ECE2007

Genotype/phenotype relation for toxic thyroid nodules with or without TSH receptor mutations

Gozu Hulya , Mueller Sandra , Bircan Rifat , Krohn Knut , Sargin Mehmet , Sargin Haluk , Gezen Cem , Erginer Turgay , Karadayi Nimet , Paschke Ralf

Constitutive activation of the cAMP pathway by activating TSHR mutation stimulates both thyrocyte proliferation and function. Thus they lead to formation of toxic thyroid nodules (TTNs) and ultimately hyperthyroidism. The in vitro activity of the various TSH-receptor mutation varies from 2–7 fold cAMP increase over the wild type TSH receptor. One previous study invrestigated a possible genotype to phenotype relation in TTNs with somatic TSHR mutation with a negativ...

ea0011p824 | Thyroid | ECE2006

Clinical characterisation and genetic analysis of a large euthyroid family with TSH-receptor germline mutation (N372T) and a hyperthyroid index patient with an additional somatic tsh-receptor mutation (S281N) on the second TSH-receptor allele

Gozu Hulya Iliksu , Bircan Rifat , Krohn Knut , Müller Sandra , Yavuzer Dilek , Ekinci Gazenf , Sargin Haluk , Sargin Mehmet , Orbay Ekrem , Cirakoglu Beyazi , Paschke Ralf

Objective: 21 different activating germline mutations have been identified up to date. We describe a large euthyroid family with a new TSH-receptor(TSHR) germline mutation where the hyperthyroid index patient also carries a somatic TSHR mutation.Method: Mutation analysis of the exon 9 and 10 of the TSHR gene from the peripheral blood samples of the members of this family and toxic thyroid nodules of the index patient were performed by denaturing gradient...

ea0011p836 | Thyroid | ECE2006

Prevalence of somatic TSHR and GS alpha mutations in toxic thyroid nodules (TTNS) in endemic and nonendemic goiter areas of turkey

Gozu Hulya Iliksu , Bircan Rifat , Krohn Knut , Müller Sandra , Vural Selaha , Gezen Cem , Sargin Haluk , Sargin Mehmet , Çirakoglu Beyazi , Paschke Ralf

Objective: Differences in iodine intake could account for the variable prevalences reported for somatic TSHR and Gs alpha mutations in TTNs. However, this question has never been setteled, since no study has yet determined the TSHR mutation prevalence in TTNs in regions with and without iodine deficiency in the same population. Therefore we studied the prevalence of somatic TSHR mutations in TTNs by investigating TTNs from patients who lived in endemic and nonendemic goiter re...

ea0056p1151 | Thyroid cancer | ECE2018

Determination of the BRAF V600E mutation prevalance at papillary thyroid carcinomas (PTCs) in Turkish population

Ozcelik Serhat , Bircan Rifat , Sarikaya Sukran , Aydin Busra , Celik Mehmet , Dayan Akin , Karadayi Nimet , Tutuncu Yasemin , Cengiz Hasret , Ozcelik Melike , Gozu Hulya Iliksu

Introduction: BRAF V600E substitution is one of the most common mutation in PTC in different populations, and is associated with poor prognosis of the classical variant of PTC (CVPTC) such as extrathyroidal expansion, vascular invasion, lymph node metastasis and recurrence of the disease. The purpose of this study is to determine the prevalence of BRAF V600E mutation in subcell- types of the PTCs in Turkish population.Materials and methods: A total of 19...