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...

Aim: Hashimoto Thyroiditis (HT); is the most common form of hpothyroidism in iodine-sufficient regions. Both genes and and environmental factors are involved in the immunopathological process of HT. Our aim in this study is to determine the prevalence of Thyrothropin Receptor (TSHR), Cytotoxic T Lypmhocyte Antigen-4 (CTLA-4) and Interleukin-1 Receptor Antagonist (IL-1RN) gene polymorphisms associated with HT in Turkish population and the relationship of genotype characteristic...

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...

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...

The association of thymoma with myasthenia gravis is well known, however association of these two syndromes (Thymoma+Myasthenia gravis) with Addison’s disease is very rare. In here we report myasthenia gravis and autoimmune Addison’s disease in a patient with thymoma.A 32-year-old man was admitted to our hospital with symptoms of weakness, anorexia, nausea, vomiting, pigmentation of skin and mucous membranes for 2 years. He had undergone to the...

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...

Introduction: Hashimoto’s thyroiditis (HT) is caused by a variety of genes, cytokines, receptors, and environmental factors. A series of enzymes known as type 1 and type 2 deiodinases (D1, D2) are in charge of converting thyroxine (T4) into triiodothyronine (T3). It is believed that the low free T3 (fT3) levels caused by D2 polymorphism may result in thyroid autoimmunity through the induction of inflammation. However, iodothyronine deiodinase (DIO) gene polymorphism and H...

Introduction: Renin-angiotensin-aldosterone system was shown to be activated in severe COVID-19 infection. We aimed to investigate the relation between angiotensin converting enzyme (ACE) levels, ACE gene polymorphism, type 2 diabetes (T2DM), and hypertension (HT), and the prognosis of COVID-19 infection.Methods: Clinical features of adult patients with SARS-CoV-2 infection diagnosis were analyzed. ACE gene analysis and ACE level measur...