Endocrine Abstracts

IntroductionThere is evidence of the interaction between the main parameters of calcium-phosphorus metabolism, vitamin D and the course of a new coronavirus infection. Moreover, hypocalcemia is one of the most frequent biochemical disorders and is associated with severity of the disease, increased likelihood of hospitalization, need for mechanical ventilation, and poor prognosis in COVID-19.ObjectiveTo estima...

Carcinoid heart disease (CHD) affects about 20-50% of patients with carcinoid syndrome (CS) and is the main cause of mortality in this group of patients. The 3-year survival rate in patients with CHD is 31% compared to 68% in those without cardiac involvement. The cause of the development of CHD is the flow of serotonin-rich blood, and the lesions affect the right heart (localizing mainly in the endocardium and inner membrane of large vessels). The study aim was to present a s...

Pheochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumours, which derive from the chromaffin cells of the adrenal medulla or extra-adrenal sympathetic and parasympathetic ganglia. About 15-20% of those neoplasms could present malignant course. Prediction of PPGL metastatic potential still remains a great clinical challenge, since the sensitivity and specificity of proposed prediction systems are not satisfactory. We performed a retrospective database search for ...

The clinical presentation of Graves’ disease (GD) depends on the combination of environmental and genetic factors. The CTLA-4 and CD28, ICOS genes encoding negative and positive regulator of the T-lymphocyte immune response, are candidate genes for conferring susceptibility to thyroid autoimmunity.Polymorphisms in genes: CTLA-4: g.319C>T (rs5742909), c.49A>G (rs231775), g.*642AT(8_33), CT60 (g.*6230G>A, rs3087243), Jo31...

BackgroundMultiple neuroendocrine neoplasia type 1 is a rare, heterogeneous genetic disorder with an autosomal dominant inheritance, predisposing to benign and malignant tumors. The phenotype of MEN1 syndrome varies between patients in terms of tumor localisation, age of onset and clinical aggressiveness, even between affected members of the same family. We report a heterogenic phenotype of the MEN1 variant c.[781C > T] (LRG_509t1) previously reporte...

Approximately 70% of clinical laboratories in the United Kingdom use assays from Abbott Laboratories and Roche Diagnostics. We carried out a cross-sectional study between two neighbouring hospital laboratories in our regional pathology network, comparing the potential impact of Abbott and Roche PTH and calcium assays in the diagnosis of normocalcaemic hyperparathyroidism. Over 4 months, forty-one vitamin D replete (>50 nmol/l) normocalcaemic hyperparathyroidism patients (3...

Background: There is currently no effective blood biomarker for lung neuroendocrine neoplasia diagnosis and management. We describe the clinical utility of a 51 neuroendocrine-specific gene expression set in blood to diagnose bronchopulmonary neuroendocrine tumors (BPNETs) and define their clinical status.Methods: The discovery set included BPNETs (n=154) and controls (n=90), randomly assigned (1:1) to a test and validation set. Specifi...

Integrins are cell-extracellular matrix adhesion molecules considered functionally related to the development of cancer metastasis. Starting from the dataset of mRNA-seq of papillary thyroid carcinoma (PTC) from the TCGA, we determined the expression of fibronectin 1 (FN1) and fibronectin-binding integrins in PTC. We then analyzed the association of the expression of these two genes with the driver genes, the stage of the disease and its outcome. 355 PTCs and 58 normal thyroid...

Introduction: Polycystic ovary syndrome (PCOS) is characterized by menstrual disorders, hyperandrogenism and polycystic ovaries on ultrasonography. This hormonal disorder is also strongly associated with insulin resistance. The diagnosis of PCOS can be established after the exclusion of other causes of mentioned symptoms, such as non-classic congenital adrenal hyperplasia (NCAH). To date, several studies suggest the increased serum concentration of 17-hydroxyprogesterone (17-O...

According to the 4th edition of the WHO classification of endocrine organ tumors (2017), all pheochromocytomas are classified as malignant tumors (ICD-O code 8700/3). However, in the literature there are no unambiguous data on the significance of clinical and laboratory predictors of the aggressiveness of pheochromocytoma. The aim of the study was to verify possible predictors of pheo-progression using clinical data, the results of laboratory and instrumental examination (incl...