Endocrine Abstracts

Background: Adrenocortical carcinoma (ACC) is a rare cancer associated with hereditary syndromes in 10% of cases. However, data on germline variants (GVs) in adult patients with sporadic ACC are limited.Methods: We analyzed germline DNA from 150 adult patients with sporadic ACC sequentially referred to our centers between 1998-2019. We designed a custom panel of 17 genes potentially involved in the pathogenesis of ACC: AIP, APC, ARMC5, ARNT, BRCA1, BRCA2...

Background: The advances in next-generation sequencing (NGS) technologies and bioinformatic analysis have shed light on genetic alterations, either of germline or somatic origin, in many disorders, including adrenocortical diseases. However, our knowledge on genomic characteristics in benign adrenal tumors of serendipitous discovery (adrenal incidentalomas) remain scarce.The aim of this study was to understand the pathogenic role of germline variants in adrenal incidentalomas....

Introduction: Recent studies found an increased cardiometabolic risk in patients with Non-Functioning Adrenal Incidentaloma (NFAI), but all these data have low quality of evidence.Objective: To establish whether cardiometabolic risk and complications in NFAI patients can be associated to the presence of a non-secreting adrenal tumor, independently from potential confounding factors.Subjects and Methods: In this cross-sectional and ...

Aims: Narcolepsy with cataplexy (NC) is a rare, chronic disease, characterized by excessive daytime sleepiness, cataplexy, disrupted nocturnal sleep and manifestations of abnormal REM (Rapid Eye Movement) sleep. Human NC is probably caused by environmental and genetic factors, leading to dysfunctions in hypothalamic orexigenic neurons. Recent studies showed that NC was associated with an increase in Body Mass Index, despite a reduction in food intake. In the current study we i...

White adipose tissue (WAT) stores excess energy as triglycerides, while brown adipose tissue (BAT) dissipates energy through heat, acting as a defense against cold and obesity and as a positive regulator of metabolic functions. The thermogenic function of BAT is mainly regulated by the mitochondrial uncoupling protein 1 (UCP1) in brown adipocytes. Moreover, it has been shown that chronic exposure to glucocorticoids (GC) or synthetic GC receptor (GR) agonists inhibits the activ...

BMP15 is an oocyte-derived growth factor belonging to TGF-β superfamily involved in follicular development as a critical regulator of granulosa cell processes. BMP15 gene maps at Xp11.2 and is expressed throughout folliculogenesis. BMP15 is translated as a pre-proprotein consisting of signal peptide, pro-region and mature peptide. The pro-region has an important role in the processing driving the pro-protein dimerization and secretion of active mature dimers. We report th...

White adipose tissue (WAT) stores excess energy as triglycerides, while brown adipose tissue (BAT) dissipates energy through heat, acting as a defence against cold and obesity and as a positive regulator of metabolic functions. BAT thermogenic functions are mainly induced by mitochondrial uncoupling protein-1 (UCP-1), which induces uptake of lipids and glucose to sustain oxidation and thermogenesis in both brown and beige adipocytes. The ghrelin gene-derived peptides, acylated...

Introduction: The prevalence of primary hyperparathyroidism is increasing owing to the more the routinely measurements of serum calcium. A single benign para-thyroid adenoma is the most frequent cause of sporadic PHPT. Primary hyperparathyroidism can also be due to ectopic mediastinal parathyroid adenoma in 11-25% of patients, more frequently involving inferior parathyroid translated in anterior mediastinum. In general to detect ectopic adenoma recent guidelines recommend the ...

Introduction: It is known that growth hormone (GH) may influence neoplastic development of endometrial epithelium. GH is produced by normal and neoplastic endometrial cells and elevated levels have been observed in endometrial epithelium of patients with endometriosis and endometrial adenocarcinoma (EA). Moreover, endometrium cancer is one of the most occurring tumors in acromegalic patients. Furthermore, autocrine GH increases the oncogenicity of EA cells and is considered fu...

Acromegaly results from excess growth hormone (GH) secretion, due to a pituitary adenoma. Surgery is the first option recommended for treatment of GH secreting pituitary adenomas; medical therapy, mostly represented by somatostatin analogues (SSA), is most often used if surgery is not successful. Insulin-like Growth Factor-1 (IGF-1) physiologically reduces GH levels through an endocrine negative feedback loop. IGF-1 exerts its effects also through PI3K/Akt/mTO...