Endocrine Abstracts

Background: Although pituitary adenomas are common endocrine neoplasms, the background of their pathogenesis has not clearly revealed. G1/S checkpoint alterations of the cell cycle have already been described in these tumours. MicroRNAs (miRs) which are small, non-coding RNA molecules, and posttranscriptionally regulate protein expression have also identified as potential pathogenic factors in certain cases. Our aim was to determine miR expression profile in pituitary adenomas...

Oncogenic osteomalacia (tumor induced osteomalacia-TIO) is a rare disease that can lead to severe physical handicap and pains. Its pathogenesis involves the secretion of fibroblast growth factor-23 inducing urinary phosphate loss and consequent hypophosphataemia. We report a case of a TIO caused by a tumor in the nasal cavity. In 2010, a 61-years-old woman was examined because of muscle weakness and arthralgia in the extremities. Her symptomes started ~3 years before her prese...

Background: The pathogenesis of neural crest-derived tumours (phaeochromocytoma and neuroblastoma) is complex, and several studies applying functional genomics approaches have been performed in these tumours to date. However, the comparison of their genomic features has not been performed yet.Objective: We have carried out an in silico meta-analysis of altogether 1784 neuroblastoma and 351 phaeochromocytoma samples to establish similarities and differenc...

Objective: Several studies including ours have reported significant associations between polymorphisms (SNPs) of the HSD11B1 gene and bone metabolism. The aim of the present study was to explore systematically the potential associations between SNPs of the HSD11B1 gene and bone mineral density (BMD) in women with endogenous Cushing’s syndrome (CS) and healthy postmenopausal women.Patients and methods: A complex bioinformatical including haplotype an...

Aldosterone/renin ratio (ARR) is obtained by measurements of plasma aldosterone (ALD) and either plasma renin activity (PRA) or direct renin concentration (DRC). The various gestogen components (desogestrel, DSG; gestoden, GD; drospirenon, DRSP) of the frequently used oral contraceptives (OC) can influence the ARRs differently. Aim of the study was to analyze the effect of OCs with different gestogens and low-dose estradiol component on ARRs (ALD/PRA versus ALD/DRC).<p cla...

Plasma total testosterone (TT) does not provide reliable information about the biological active testosterone, since a large proportion of this hormone is bound to either specific (sex hormone binding globulin, SHBG) or non-specific binding proteins (albumin). Free testosterone (fT) represents not more than 0.7–2.2% of TT while bioavailable testosterone (BA-T) in females is about 15–48% of the TT. The aim was to investigate the analytical and clinical correlations am...

We report a family with a novel heterozygous mutation of the menin gene. This gene encodes a tumor suppressor protein which is responsible for multiple endocrine neoplasia type 1. The index female patient presented with symptoms of mild gastric hyperacidity and recurrent kidney stones. Family history revealed, that the daughter, as well as two sisters of the index patient had operations for primary hyperparathyroidism (PHPT). Clinical studies in the index patient showed elevat...

Background: The adrenolytic agent mitotane is widely used in the adjuvant treatment of adrenocortical cancer, but its mechanism of action including potential effects on mRNA expression is poorly elucidated.Objective: To examine mitotane-induced mRNA expression changes in the H295R adrenocortical cancer cell line.Methods: Various concentrations of mitotane in different treatment periods (24–120 h) have been tested in cell viabi...

Decreased bone mineral density (BMD) and disturbances in glucose metabolism are common complications of Cushing’s disease. Many recent studies have shown that hyperinsulinemia in type 2 diabetes mellitus (DM) may lead to higher BMD as compared to healthy individuals. The aim of the present study was to investigate the possible relationships between BMD, serum markers of bone metabolism and plasma cortisol concentrations. The second objective was to determine whether the p...

Many previous studies have shown decreased bone mineral density (BMD) in patients with endogenous hypercortisolism, although data on the severity of bone disease are contradictory. There are very sparse data about the correlations between plasma cortisol concentrations and BMD.The study included 188 patients with clinically inactive adrenal adenomas (IAA) and 30 patients with ACTH-independent Cushing’s syndrome (CS) due to adrenocortical adenomas. A...