Endocrine Abstracts

Background: Postprandial hyperglycemia is an independent risk factor for cardiovascular disease and all-cause mortality. This excess cardiovascular risk may be partly explained by the impairment in endothelial function that typically follows an acute increase in plasma glucose levels. Recently, nutritional interventions focused on the sequence of macronutrient consumption within the meal have been proposed to normalize postprandial glycemia in subjects with abnormal glucose to...

Introduction: Nrf2 (Nfe2l2) is a transcription factor that regulates a series of cytoprotective and antioxidant enzymes. Upon exposure to oxidative or electrophilic stress, Nrf2 enters the nucleus and induces its target genes expression. Follicular thyroid cells have physiologically high levels of reactive oxygen species as oxidation of iodine is essential for iodination of thyroglobulin and thyroid hormones synthesis. We have shown previously that Nrf2 pathway is active in th...

Background: Genetic alterations underlying the pathogenesis of autonomous cortisol secretion and early adrenocortical tumorigenesis have been identified in 40% of adrenocortical tumors (ACT). Nonetheless, the molecular events leading to development of ACT and steroid secretion remain obscure for a large proportion of patients.Aim: Aims of our study were to investigate the relationship between transcriptome profile and genetic background in a large series...

The somatostatin analogue pasireotide is approved for the treatment of Cushing’s disease, where it achieves biochemical normalization in ~40% of patients. Predicting pasireotide resistance would help avoid unnecessary treatment. Pasireotide mediates its antisecretory action by binding to somatostatin receptor 5 (SSTR5). Almost half of corticotroph tumours carry mutations in the ubiquitin specific protease 8 (USP8) gene that encodes for a deubiquitinase. Pre...

Craniopharyngiomas are rare benign epithelial tumors derived from remains of Rathke’s pouch. They are more prevalent in childhood, adolescence, and adults <50 years, and, commonly, are usually diagnosed after being associated with serious comorbidities when the development of the tumor is already advanced. To date, first-line therapy is usually surgery, but frequently the resection is not complete, causing high rates of recurrence. Therefore, the identification of ne...

Development and progression of liver diseases, from non-alcoholic fatty liver disease (NAFLD) to steatohepatitis (NASH), and hepatocellular carcinoma (HCC), seem to be accompanied by a dysregulation of the expression of alternative splicing variants (SVs) and appearance of aberrant SVs. The splicing factor 3B subunit 1 (SF3B1) represents a crucial player for the functional assembly of the spliceosome, the core machinery that controls the splicing process, and its activity can ...

Introduction: Mutations in FSHβ gene leading to isolated follicle-stimulating hormone (FSH) deficiency are very rare and the disorder is inherited in an autosomal recessive manner. Up to date, only few case reports have been described in the literature.Case report: 25-years old woman was admitted to the Endocrinology Department with a suspicion of FSH deficiency. She was firstly diagnosed with primary amenorrhoea and impaired pubertal development at...

Human and animal health has been exposed to endocrine disruptors (EDs) which are chemicals found in pesticides, food or personal care products. The main concern about these disruptors is caused by their interference with the endocrine system causing adverse effects, such as altered reproduction, abnormal neurological development in newborns and children or an elevated susceptibility to hormone-related cancers. The thyroid gland and its hormones belong to major targets that are...

Background: BAFF is a Serum B cell stimulating factor shown elevated in Graves’ disease, compared to controls (Vannucchi 2012). BAFF and its receptor are expressed on lymphocytes infiltrating the thyroid in Graves’ disease as well as on thyrocytes themselves (Campi 2015).Aims: A single-blind randomized controlled trial (EudraCT 2015-002127-26) has been conducted to test the efficacy of the anti-BAFF monoclonal antibody belimumab (BMB) in acti...

Adipose triglyceride lipase (ATGL) and hormone-sensitive lipase (HSL) are key enzymes involved in intracellular degradation of triacylglycerols. The environmental factors and circulating biomarkers can affect the expression of ATGL and HSL in adipocytes among rats. To our knowledge, however, no information is known about the dietary and plasma fatty acids composition on gene expression of ATGL and HSL in human adipose tissue. We aimed to determine how fatty acid species measur...

Growth hormone-releasing hormone (GHRH), apart from stimulating GH secretion in the pituitary, exerts many extrapituitary functions, including stimulation of cell proliferation and survival. GHRH and its receptor splice variants (SVs) are expressed in different cancer cell types, where they modulate cell growth. It has been shown that GHRH antagonists exert anticancer activities in a variety of tumors, including malignant pleural mesothelioma and lung cancer, one of the leadin...

Background: Adrenocortical cancer (ACC) is an aggressive tumor with heterogeneous prognosis. Previous genomic studies have demonstrated the importance of molecular classification for the prognostic assessment. Among molecular markers, transcriptome profiles “C1A” (steroid and proliferative signature) and “C1B” (immune signature) show the strongest association with outcome. However these markers are determined so far only from frozen tissue samples, sinc...