Endocrine Abstracts

Patients with germline pathogenic variant (PV) in the SDHB gene (Paraganglioma syndrome type 4, PPGL4) have a high-risk of developing paragangliomas and pheochromocytomas. PPGL4 has increased risk for aggressive and metastatic abdominal-thoracic paragangliomas compared with other paraganglioma syndromes.Aims: To assess possible germline DNA epigenetic alterations in patients harboring the SDHB PV.Materials and Met...

Metabolic syndrome is characterized by the hyperactivation of the hypothalamic-pituitary-adrenal (HPA) axis, leading to increased steroidogenesis and altered cortisol secretion. The molecular signaling mechanisms underlying HPA axis alterations in metabolic diseases remain poorly understood. In this study, our objective is to investigate how changes in signaling molecules within both plasma and adipose tissue contribute to the regulation of adrenal steroidogenesis in metabolic...

Background: Current parameters of conventional radiology have several limitations in defining the nature of adrenal masses. Radiomics, or texture analysis, has shown high diagnostic performance in recent pilot studies, although confirmatory studies are needed. Moreover, the effect of combination of radiomics with hormonal secretion on diagnostic performance is poorly explored.Aim: To evaluate the accuracy of radiomics in predicting adrenal masses nature ...

Background: Primary aldosteronism (PA) is the most prevalent cause of secondary hypertension. Its two main clinical forms are unilateral adenoma (APA) and bilateral hyperplasia (BAH), which require markedly different medical treatments, so differentiating between the two is of utmost clinical importance. The current gold standard method for this is adrenal vein sampling (AVS), the application of which is hindered by limited availability and high skill requirements.AimOur goal ...

Introduction: Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) is a rare disease responsible for variable levels of cortisol excess. Constitutional pathogenic variants of the tumor suppressor gene ARMC5 are its most frequent molecular cause (20% of index cases). Recently, KDM1A has been identified as the causing gene for PBMAH associated with food-dependent Cushing’s syndrome (FDCS), consecutive to the illegitimate expression of the GIP recepto...

Introduction: Methylation of FKBP5, a glucocorticoid(GC)-receptor co-chaperone, negatively correlates with cortisol levels in both healthy and hypercortisolaemic individuals, and may serve as an indicator of GC exposure. We explored whether GC replacement correlates with FKBP5 methylation levels in patients with adrenal insufficiency (AI), aiming to assess the adequacy of substitution therapy.Methods: In 122 patients with chronic primary (n=73) ...