Endocrine Abstracts

Background: Medullary thyroid carcinoma (MTC) is a rare calcitonin producing neuroendocrine tumour that originates from parafollicular C-cells of the thyroid gland. RET proto-oncogene germline mutations are crucial for the onset and the progression of MTC, and the occurrence of single nucleotide polymorphisms could predispose the clinical course of disease. The objective of this study was to evaluate possible differences in clinical presentation among patients with/without RET...

Background: Medullary thyroid cancer (MTC) makes up to 5–10% of all cases of thyroid malignancies. The clinical course of MTC varies from an extremely indolent tumour to an aggressive variant that is associated with a high mortality rate. RET proto-oncogene germline mutations are crucial for the onset and the progression of MTC. The aim of this study was to evaluate the L769L (subgroup L) and S836S (subgroup S) allele frequencies in patients with sporadic MTC (group A, <e...

Medullary thyroid cancer (MTC) is a form of thyroid carcinoma which originates from the calcitonin-secreting neuroendocrine parafollicular cells of the thyroid. It accounts for 5–10% of all thyroid cancers, and it mostly occurs as a sporadic entity (sMTC), but a familial pattern is also possible. Somatic mutations of RET are reported in 20–80% of sMTCs. The majority of MTCs harbour a RET M918T-exon 16 mutation. In sporadic MTCs the RET gene is mutated in codon 918, w...

Purpose: Papillary thyroid cancer (PTC) is the most common thyroid and endocrine malignancy worldwide. Vitamin D (calciferol or 25-hydroxyvitamin D) (25(OH)D) has been postulated as a key modulator in several cancer-related pathways, although its contribution to PTC still remain controversial. The aim of the study was to analyse the correlation between 25(OH)D serum levels and 25(OH)D insufficiency as well as the risk of development of PTC and its variants: classical type (CV-...

Purpose: Papillary thyroid cancer (PTC) accounts for approximately 80% of all thyroid cancers and is defined by its unique cytologic and histologic features. Mutations of the RET and BRAF/V600 genes are found in nearly 70% of PTC cases. They are able to trigger the activation of mitogen-activated protein kinase pathways and to promote neoplastic cell proliferation. Genetic events may further lead to numerous different cell variants of PTC which may be identified via t...

Background: Genetics may play an important role in type 2 diabetes (T2D). In the last 20 years, there has been a surge in the number of genetic studies in attempts to identify some of the underlying risk factors. Mutations in a wide variety of genes contribute to the deregulation of glucose homeostasis, and seem to confer the risk for developing T2D. Insulin receptor substrate-1 (IRS1) is a substrate of the insulin receptor tyrosine kinase and appears to have a control role in...

Background: Type 2 diabetes (T2D), which is multifactorial, inherited and progressive chronic disorder, is characterised by hyperglycemia due to defects in insulin secretion and action. The sulfonylurea receptor (SUR1) and the insulin receptor (INSR) are critical elements in insulin-signalling pathways, and mutations in the SUR1 and INSR genes have been reported to have a role in determining susceptibility to T2D.The aim was to study whether the -3 C/T p...

Acute and chronic alcohol intake and alcohol withdrawal induce dysfunction of neuroendocrine and other regulatory systems. The aims of this study were to assess a possible hypothalamo-pituitary-adrenal (HPA) axis dysfunction in population of alcoholics, using dexamethasone suppression test (DST). The study was approved by local Ethical Committee. The serum and urinary cortisol were compared between the groups of 89 male patients (64.5% depressive and 35.5% nondepressive alcoho...

We studied levels of T3, T4, FT3, FT4, rT3 and TSH concentrations in serum and FT3, FT4, rT3 and TSH concentrations in cerebrospinal fluid (CSF) in 10 patients with brain tumor and 20 patients with acute stroke and compared them to 7 patients in control group (further clinical evaluation in control group did not show brain lesions). All patients were euthyroid. The study was approved by loc...