Endocrine Abstracts

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...

BackgroundPrimary aldosteronism (PA) constitutes the most common form of hormonal hypertension. However, it is very often misdiagnosed and incorrectly managed. Detection rates are inadequately low and the interpretation of hormonal results is impossible in some patients. Subtype evaluation with its several limitations represents another problematic issue. We describe the cases of two young primary aldosteronism patients with complicated history and a few...

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...

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 ...