Endocrine Abstracts

Introduction: Pheochromocytoma is a rare tumor that develops from chromaffin cells of the adrenal medulla. In about 90% of cases, it is a benign tumor. Along with catecholamines, neuroendocrine cells of the adrenal medulla have the ability to produce various proteins and neuropeptides and secrete them into the blood. Among the known biologically active substances are: neuropeptide Y and human cocaine- and amphetamine-regulated transcript (CART).Purpose: ...

Introduction: Paragangliomas belong to the neuroendocrine tumours arising from autonomic nervous system. Various localizations, symptoms that can mimic a wide range of diseases and often unpredictable ability to metastasize are the reasons why paragangliomas pose a significant diagnostic challenge. More than one third of paragangliomas is associated with germline mutations –succinate dehydrogenase (SDH) subunit genes are among the most common susceptibility genes. SDHD wa...

Introduction: Pheochromocytoma is a rare, usually benign tumor composed of neuroendocrine (chromaffin) cells of the adrenal medulla. It is the cause of secondary arterial hypertension. The biochemical diagnosis of a pheochromocytoma is based on the determination of concentration/excretion of catecholamine metabolites in blood or urine. The most sensitive biomarkers in the biochemical diagnosis of pheochromocytoma are plasma free methanephrines (metanephrine, normetanephrine an...

Introduction: 24-hydroxylase, encoded by a CYP24A1 gene, is a crucial enzyme entailed in catabolism of vitamin D. Loss-of-function mutations of CYP24A1 result in hypercalcemia, not adequately concomitant high levels of 1,25(OH)2D and low PTH levels. The variety of clinical manifestations depends on age – mutations can lead to fatal infantile hypercalcemia among neonates (typically precipitated by supplementation of vitamin D), whereas adults’ symptoms are usually mil...

Background: Vitamin D is a dietary micronutrient responsible for calcium and phosphorus metabolism and multiple extraskeletal actions. The assessment of vitamin D status is commonly based on measurement of 25(OH)D total concentration in serum. However, the usage of LC-MS/MS analytical technique allows to reliably assess a panel of vitamin D metabolites in serum or plasma, which may help to investigate the metabolic paths of vitamin D, especially in populations at risk of defic...

Introduction: Saliva is an interesting alternative to blood in clinical evaluation of endocrine function. Certain advantages of saliva collection must be considered, when comparing with conventional blood sampling. Vital arguments are that procedure is easy, non-invasive and stress-free. The studies on correlation between salivary and serum thyroid hormones are scarce and contradictory. The goal of our research was to assess if salivary thyroid hormone levels reflect serum con...

Background: Primary aldosteronism (PA) is the most common endocrine cause of secondary hypertension. It occurs in 5%-10% of hypertensive patients. PA is a group of disorders associated with semi-autonomous hypersecretion of aldosterone. Laboratory diagnosis in patients with suspected PA consists of screening tests aimed at determination of serum/plasma aldosterone concentration, direct renin concentration (DRC) and calculation of the aldosterone/direct renin ratio (ADRR). The ...