Endocrine Abstracts

Pituiatry tumors account for about 15% of all intracranial neoplasms. They arise from pituitary cell types due to both cell cycle trophic dysruptions leading to adenomatous growth, as well as a coupling of specific hormone gene over-expression. Thus, both tumor growth characteristics, as well as hormonal excess are the hallmarks of these invariably benign tumors. They may lead to both central compressive features due to mass expansion or invasion, as well as to specific clinic...

Pseudohypoparathyroidism (PHP) refers to a heterogeneous group of rare metabolic disorders characterized by hypocalcemia and hyperphosphatemia due to PTH resistance. Heterozygous loss of function mutations in the gene encoding the alpha-subunit of Gs (GNAS) inherited from the mother lead to PHP type Ia. PHP type Ia (PHP-Ia) is a disease in which the physical features (short stature, obesity, round face, brachydactyly and subcutaneous ossifications) that constitute Albri...

IntroductionTurner syndrome(TS) is characterized by complete/partial monosomy or by a structural defect in one of X chromosomes. Despite clinical hallmarks of short stature(SS) and gonadal dysgenesis(GD), phenotype is variable and related to underlying chromosomal pattern. Loss of the distal segment of the short arm of x-chromosome(Xp-), including haploinsufficiency of short stature homeobox-containing (SHOX) gene, is thought to be the main factor for gr...

Microglial dysfunction is one of the hallmarks and leading causes of common neurodegenerative diseases (NDD), including Alzheimer’s disease (AD), Parkinson’s disease (AD), and amyotrophic lateral sclerosis (ALS). All these pathologies are characterized by aberrant aggregation of disease-causing proteins in the brain, which can directly activate microglia, trigger microglia-mediated neuroinflammation, and increase oxidative stress. The availability of cell-permeable i...

Aberrant epigenetic features occurring in parathyroid tumors involve DNA methylation, histone methylation, and non-coding RNAs. RASSF1A and APC were frequently downregulated in human cancers. Here, we investigated RASSF1A and APC methylation status in a series of parathyroid tumors from Italian patients with primary hyperparathyroidism (PAds, n=80), confirming RASSF1A and APC promoter methylation as a hallmark of sporadic parathyroi...

Introduction: The differential diagnosis between arginine vasopressin deficiency (AVP-D), formally known as central diabetes insipidus, and primary polydipsia (PP) is challenging. In clinical routine, psychopathologic findings are often used as a hallmark for diagnosing PP; thus, it is often referred to as psychogenic polydipsia. Yet, psychopathologic characteristics are barely assessed in patients with AVP-D, and to date, no data exist comparing AVP-D and PP with regard to th...

The differential diagnosis between arginine vasopressin deficiency (AVP-D), known as central diabetes insipidus, and primary polydipsia (PP) is challenging. Psychopathologic findings are often used as a hallmark for diagnosing PP; thus. Yet, psychopathologic characteristics are barely assessed in patients with AVP-D, and to date, no data exist comparing AVP-D and PP with regard to these features. Therefore, in this study, we aimed to compare levels of anxiety, depression, alex...

Aim: IFNα is a key regulator of the initial dialogue between pancreatic β-cells and the immune system in type 1 diabetes (T1D). IFNα induces endoplasmic reticulum (ER) stress, insulitis and a massive HLA-ABC overexpression in human β-cells, three histological hallmarks of T1D. Against this background we investigated the global role of IFNα on iPSC-derived islet-like cells, used here to mimic islet cells in the early neonatal period when autoimmunity ag...

Introduction: Gonadotroph adenomas usually present as clinically non-functioning sellar masses. They are extremely infrequent in children. Only some case report of children and adolescents with clinical manifestations of high serum gonadotrophin levels have been published. As in adult patients most of the gonadotroph adenomas have a silent growth, and therefore a late presentation as macroadenoma with mass effects.Case report: This 16-year-old girl prese...

Background: Neuroendocrine malignancies are heterogeneous cancers with varied clinical outcomes. The molecular landscape driving this heterogeneity has not yet been fully characterized. We aimed to investigate the gene expression profiles of neuroendocrine neoplasms, in relationship to baseline clinicopathological features and clinical outcomes, to elucidate underlying biology and potential therapeutic targets.Methods: Patients with neuroendocrine tumors...