Endocrine Abstracts

Introduction: Nijmegen breakage syndrome(NBS) represents a rare autosomal recesive disorder, characterized by severe chromosomal instability. It is caused by mutations in the NBN gene, which product, nibrin, belongs to the hMre11/hRad50 protein complex, critical for processing DNA double-strand breaks during mitotic and meiotic recombination. The hallmarks of NBS are growth retardation, microcephaly, premature ovarian failure(POI) in females, immunodeficiency and predispositio...

Background: In 2014 a new Italian classification system of thyroid cytology divided the indeterminate TIR3 category in two groups, TIR3A and TIR3B, aiming to reduce unnecessary thyroidectomies. The reported risk of malignancy is: TIR3A: <10%, suggesting follow-up and possible FNA repetition after 6 months, and TIR3B: 15-30%, recommending surgery.Objectives: We aimed to: evaluate the histological prevalence of malignancy in TIR3A and TIR3B nodules in ...

Glucocorticoid (GC) excess drives obesity, insulin resistance and type 2 diabetes. Obstructive sleep apnoea (OSA) is a prevalent condition associated with both activation of the hypothalamic-pituitary-adrenal (HPA) axis and an adverse metabolic phenotype. However, a causal link between these two features has not been established. We designed a novel human model of intermittent hypoxia (IH) aimed at replicating the systemic insulin resistance associ...

Glucocorticoid (GC) excess drives obesity, insulin resistance and type 2 diabetes. Obstructive sleep apnoea (OSA) is a prevalent condition associated with both activation of the hypothalamic-pituitary-adrenal (HPA) axis and an adverse metabolic phenotype. However, a causal link between these two features has not been established. We designed a novel human model of intermittent hypoxia (IH) aimed at replicating the systemic insulin resistance associ...

Objective: Vitamin D has potential immunomodulatory effects. We studied whether vitamin D3 supplementation affects the course of Graves’ disease (GD).Methods: In a double-blind, placebo-controlled design, we randomized patients with a first time diagnosis of GD hyperthyroidism to daily supplementation with vitamin D3 70 mg (2800 IU) or placebo, as add-on to standard treatment with anti-thyroid drugs (ATD). The intervention was continued 12 months af...

Chronic stress is a pervasive concern in the modern society. A long-term hyper activation of the hypothalamic-pituitary-adrenal (HPA) axis leads to elevated amounts of stress hormones [e.g. ACTH and glucocorticoids (GCs)]. This can incur maladaptation that eventually contributes to mental illness, cardiovascular dysfunctions, diabetes, cancer and autoimmune diseases. Emerging key players for stress adaptation of the HPA axis are stem/progenitor cell populations. In this study,...

Introduction: Kabuki syndrome (KS) is a rare congenital, multisystemic disorder caused by pathogenic variants of KMT2D or KDM6A genes, causing autosomal dominant KS type 1 (more than 80%) and X-linked KS type 2 respectively. The phenotype spectrum is highly variable, consisting of a mixture of any of the five cardinal features (facial dysmorphic features, skeletal defects, dermatoglyphic abnormalities, various degrees of intellectual and growth retardation) with structural dis...

Stress can lead to an increase in body fat and obesity as main clinical conditions preceding the metabolic syndrome. In metabolic stress, hyperactivation of the hypothalamic-pituitary-adrenal (HPA) axis has been observed, resulting in increased steroidogenesis and alteration of cortisol secretion1. This increased sensitivity of the HPA axis may be related to the development of comorbidities or severe illness in patients with metabolic diseases and vice ...

Some patients with type 2 diabetes mellitus (T2DM) suffer from severe acquired insulin resistance (IR). There is still a shortage of research analyzing the T2DM patients with severe IR and identifying their risk factors.Aim: To evaluate how selected sociodemographic and metabolic factors are linked to severe IR among patients with T2DM.Methods: It was a case control study. If T2DM patients received high insulin doses (>1 IU/kg/...

Introduction: Clear cell renal carcinoma (ccRCC) is a subtype of renal cell carcinoma, the most frequent one (80%) and usually affecting only one kidney. It is twice as common in men than women between 50 to 70 years old. It can be associated with some genetic conditions that predispose patients to ccRCC, like Von Hipple-Lindau disease. Some clinical observations and molecular studies raised the hypothesis that RCC is a hormone−dependent tumor.Case...