Endocrine Abstracts

The genetic instability, i.e. loss of heterozygosity (LOH) and microsatellite instability (MSI) are frequent molecular events in thyroid tumour aetiopathogenesis. They were found in several chromosomal critical areas, including 3p12–p21.2, 3p24.2–p25.3, 7q21.1–q31.2, 10q22–24, and 15q11–q13, with loci of oncogenes and tumour suppressor genes.Aim of the study: Evaluation of usefulness of LOH/MSI as diagnostic/prognostic biomarker ...

The search for new differentiating biomarkers in follicular-cell derived thyroid tumors (FCDT), especially for the FNAB with underdetermined cytology, is an important scientific task. Disturbed expression of tumor suppressor genes plays important role in thyroid carcinogenesis. In this study we focused on epigenetic mechanism influencing on trefoil factor 3 (TFF3) and tissue inhibitor of metalloproteinases 3 (TIMP3) expression.Aim of the study: Evaluatio...

Aim of the study: Medullary thyroid cancer (MTC) occurs as hereditary and sporadic form. Hereditary type is a consequence of RET proto-oncogene germline mutations also somatic RET mutations are detectable in sporadic MTC tumors. There is a significant relation between site of mutation and the cancer phenotype as well as a clinical course of the MEN 2 Syndrome as a consequence of the different transforming potential of the RET gene mutations. The aim ...

Papillary thyroid cancer (PTC) is well known family occurring cancer disease. It is estimated, that ~5% of differentiated thyroid cancers (where PTC is the most frequent) are hereditary. Susceptibility genes are poorly known, however, recently some SNPs located on chromosome 9 in FOXE1 locus (rs965513) and on chromosome 14 (rs944289) close to NKX2-1 locus have been confirmed to be associated with PTC in different populations.The aim of our study was to a...

Objectives: Recent studies on BRAFV600E mutation, known as initiating event in papillary thyroid carcinoma (PTC) and related to more aggressive clinical course of the disease, revealed its significant influence on gene expression profile suggesting that BRAF(+)PTCs represent a molecular subtype of PTC. However, the human material disables distinction of possible molecular causes of cancer from its effects, unlike the mouse model. The main goal of our project was to find genes ...

Introduction: Oncogenic Osteomalacia (OO) is a rare paraneoplastic syndrome, resulting from fibroblast growth factor 23 overproduction. The rarity of the disease and nonspecific symptoms often cause delay in diagnosis by months, or even years. There are two cornerstones in the diagnostic process. The first concerns clinical identification, where awareness of this uncommon ailment combined with hypophosphatemia and clinical signs may be sufficient to identify OO. The second inv...

The purpose of the menstrual cycle is to prepare the egg for fertilization and implantation. The changes and functions of the basic steroid hormones during the menstrual cycle are well known. However, changes to other hormones occur during the menstrual cycle as well, including those influencing the intake of food. These changes have been described inconsistently in the literature, especially considering differences in overweight and obese women. The aim of this study was to d...

Introduction: There is a substantial unmet clinical need for an accurate and effective blood biomarker for gastroenteropancreatic neuroendocrine tumours (GEP-NETs). Current monoanalyte biomarkers are ineffective. The NETest, a novel multianalyte signature, provides molecular information relevant to disease biology. We therefore evaluated, under real-world conditions, the clinical utility of the NETest as a liquid biopsy in GEP-NETs.Aim(s): Independently ...

Goiter frequency (GF) in schoolchildren and urinary iodine concentration (UIC) in an appropriately large population sample are iodine nutrition (IN) best indicators. GF in mildly iodine deficient areas should be assessed ultrasonographically, as palpation sensitivity in such cases is low.Aim: To assess thyroid volume reference values as IN marker in population with recently introduced obligatory iodine prophylaxis (OIP).Material an...

The pheochromocytoma (PH) diagnosis is often very difficult, particularly in asymptomatic or oligosymptomatic patients. Every subject with adrenal tumor should be screened for PH, although many factors may interfere with biochemical evaluation. The false positive testing for PH may result in unnecessary surgical treatment.Methods: Retrospective analysis of 45 patients after laparoscopic adrenalectomy due to suspicion of PH (based on biochemical testing) ...