Endocrine Abstracts

Background: Evaluation of steroid replacement therapy (SRT) in adrenal insufficiency (AI) is challenging for the lack of reliable parameters. Measurement of salivary cortisol and cortisone emerged as a non-invasive tool for AI management, however poorly investigated. Aim: To analyse the cortisol and cortisone circadian rhythm in normal controls (NC) and patients with primary AI (PAI) under different SRTs, and to identify useful biomarkers. <p class="...

Background: Altered sleep quality and duration have been reported in 26-67% of patients with type 1 diabetes (T1D). However, differences in study designs, populations, and methods of sleep quality assessment have led to heterogeneous results in terms of association with clinical data and blood glucose parameters.Aims: To investigate the sleep quality of a large cohort of adult patients with autoimmune diabetes under insulin treatment, and to analyze the ...

Context: Several studies have shown that Trabecular Bone Score (TBS) predicts fractures independently of Bone Mineral Density (BMD) measured with Dual Energy X-ray Absorptiometry (DXA), even in patients with Primary Hyperparathyroidism (PHPT), known to have deteriorated bone microarchitecture. Low TBS values alone are still not considered as a single criterium to recommend parathyroid surgery. Measuring bone quality in patients with PHPT may be helpful to identify a proportion...

Background: Moving from childhood to adulthood is a challenging process for individuals with type 1 diabetes (T1D), transition has been defined as the planned movement from pediatric to adult department.Aim: To assess glucometabolic control, prevalence of autoimmune disorders, and use of glucose sensors in patients with type 1 diabetes after transition to adult care.Methods: We retrospectively evaluated HbA1c, prevalence of patient...

Background: Acylcarnitines and sphingomyelins are key players of lipid metabolism at cytosolic, vesicular and cell membrane level. Their metabolism was found deranged in diseases of the hypothalamus-pituitary-adrenal axis. Little information is available about levels of these compounds in the bloodstream and their circadian fluctuations. Dried blood spots (DBS) allow multiple autonomous and painless collections per day. However, poor biological validation data are available ab...

Introduction: Lipidomics is an emerging approach to characterize circadian rhythm alterations due to diseases of the hypothalamus-pituitary-adrenal axis. Glycerophospholipids are membrane structural constituents and key players in cell signalling, homeostasis and inflammatory and immune responses. Among blood derivatives, serum may reflect the soluble fraction, whereas dried blood spot (DBS) may reflect the cell membrane fraction of these lipids. However, little information is...

Introduction: Recent studies demonstrated that circulating concentration of many metabolites fluctuates with circadian rhythmicity. However, detailed information on amino acid and biogenic amine daily variations is still lacking. Dried blood spot (DBS) sampling appears to be a convenient tool for studies requiring multiple daily sampling.Aim: To verify the validity of DBS as a suitable device, we compared serum and DBS levels and changes along the day of...

Background: DNA methylation has been recognized as a putative regulatory mechanism for CYP11B2 in primary hyperaldosteronism. We aimed to investigate the DNA methylation and the expression of a panel of genes encoding several enzymes involved in steroidogenesis in adrenocortical benign tumors.Methods: We collected a total of 60 adrenocortical tissues, including 9 non-functioning adrenal adenomas, 9 adenomas associated with autonomous cortisol se...

Introduction: The adrenal morphology in congenital adrenal hyperplasia (CAH) is poorly described in the literature, so that adrenal radiological evaluation is not recommended in patients with CAH. The aim of this study was to evaluate the adrenal morphology in a large cohort of adult patients with CAH due to 21-hydroxylase deficiency and its correlation with the subtype of CAH (non-classical-NCAH, simple virilizing-SV, or salt wasting-SW), the hormonal status and the treatment...

In a previous study we found mutations in the main catalytic subunit of protein kinase A (PKA Cα) to be responsible for cortisol-secreting adrenocortical adenomas (ACAs). These mutations interfere with the formation of a stable holoenzyme, thus causing constitutive PKA activation. More recently, we identified additional mutations affecting PKA Cα in ACAs associated with overt Cushing syndrome: Ser213Arg_Leu212_Lys214insIle-Ile-Leu-Arg, Cys200_Gly201insVal, Trp197Arg,...