Endocrine Abstracts

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...

Introduction: Wolfram syndrome is characterized by diabetes mellitus (DM), diabetes insipidus (DI), optic atrophy and sensorineural deafness. DM is the first manifestation and optic atrophy also onsets in the first decade of life. The onsets of DI and sensorineural deafness are in the second decade, urinary tract abnormalities are in the third decade and neurologic abnormalities are in the fourth decade respectively. Hypogonadotrophic hypogonadism is a usual manifestation of t...

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...

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...

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...