Endocrine Abstracts

Objective: Glucocorticoids exert their effects through the glucocorticoid receptor (GR). The local, cell-type specific glucocorticoid effect is modulated by the 11β-hydroxysteroid dehydrogenase enzymes (HSD11B) responsible for the interconversion of cortisone and cortisol. Individual sensitivity against glucocorticoids and activity of the HSD11B enzymes are at least partly determined by genetic factors.Aim: To test whether SNPs of GR and HSD11B1 gen...

Adrenocortical tumors are common, occuring in 5-7% of the population. Adrenocortical carcinoma (ACC) is rare (0.7-2/million/year) and it has a poor prognosis with a five-year survival of less than 30% in advanced stages. The histological differentiation of benign and malignant adrenocortical tumors is challenging.Objectives: To explore the diagnostic utility of multiple microRNAs in various combinations as markers of adrenocortical malignancy by using ar...

Introduction: Pheochromocytomas and paragangliomas (Pheo/PGL) are rare neuroendocrine tumours arising from the adrenal medulla or the symphathetic paraganglia, respectively. Germline mutations are present in ~40% of the patients. To date, at least 16 genes have been demonstrated to be involved in the genetic background of Pheo/PGL. Prioritization in order of genes tested can be applied, but if the probability of a disease-associated germline mutation exceeds 10% the testing of...

Introduction: Disrupted mitochondrial functions and genetic variations of mitochondrial DNA (mtDNA) have been observed in different tumors. Regarding pituitary adenomas mtDNA was evaluated only in oncocytic type using PCR based methods and it showed high prevalence of Complex I variants. Next generation sequencing (NGS) allows high throughput sequencing and it is useful for accurate identification of heteroplasmy of mitochondrial genome as well.Aim: We a...

TSH producing pituitary adenomas are a rare cause of thyrotoxicosis. These tumors account for only 1–2% of the pituitary adenomas. Co-secretion occurs in 30% of thyrotropinomas and requires careful investigation and subsequent follow up.A 43-year-old male presented with hand tremor and tachycardia. He was found to have elevated TSH, free T4 (FT4) and free T3 (FT3), but did not get treatment for years. In 2019 he developed atrial fibrillation. TSH wa...

Background: In our previous works the interdependence of DNA demethylation with proliferation and differentiation of pituitary neuroendocrine tumours (PitNET) and the inhibitory effect of Aspirin on pituitary cell proliferation were demonstrated. Although the role of Aspirin in epigenetic regulation was described in other malignancies, its correlation with pituitary tumorigenesis is currently unknown.Our objective: was to investigate the genomic and epig...

Introduction: Spindle cell oncocytomas (SCO) of the pituitary are rare tumors accounting for 0.1–0.4% of all sellar tumors. Due to its rarity, little information is available regarding its pathogonesis. The altered gene expression and the possible pathogenetic role of microRNAs (miRNAs) have been identified in many tumor types, however, until now ther is no data regarding their role in pituitary oncocytoma.Materials and methods: Total RNA was extrac...

Introduction: Altered sensitivity against glucocorticoids is partly influenced by polymorphisms (SNP) of the glucocorticoid receptor gene (GR). The aim of the present study was to extend our earlier study by inclusion and evaluation the role of the BclI and A3669G polymorphisms of the GR in patients with hormonally inactive adrenal adenomas.Description of methods: This is a retrospective, single-centre genetic association study The study included 99 pati...

A 57-year-old female patient was admitted for evaluation of multiple focal liver lesions diagnosed with abdominal ultrasound and CT. Her medical history included severe rheumatoid arthritis and pernicious anaemia treated with vitamin B12. Gastroscopic examination revealed numerous small polypoid lesions within the stomach, and histology of tissue samples obtained by biopsy showed carcinoid associated with atrophic gastritis. Although the patient had no symptoms of carcinoid sy...

Objective: Multiple endocrine neoplasia type 1 (MEN1) is a rare heritable tumor syndrome caused by germline mutations of MEN1 gene affecting mainly the parathyroid, pituitary and pancreas. Phenotype varies widely, even in first-degree relatives. Recently it has been shown that functionally active gastroenteropancreatic neuroendocrine tumors (GEP-NETs), initially frequently diagnosed as sporadic cases, lead to MEN1 diagnosis. Non-functioning tumors are increasingly rec...