Endocrine Abstracts

Introduction: Body composition is gaining great interest in some pathologies such as Type 1 Diabetes Mellitus (DM1). Adherence to the Mediterranean diet has been shown to be effective in improving the prognosis of cardiovascular disease, which is the main cause of mortality in these patients.Objectives: To assess whether adherence to the Mediterranean diet in DM1 is associated with improvement in disease control parameters, body composition, anthropometr...

Introduction: MODY 5 is a rare form of autosomal dominant monogenic diabetes with a broad phenotypical spectrum that occurs with pancreatic and extra-pancreatic clinical manifestations, such as: malformation and dysfunction of the pancreas, nephrourologic anomalies, impaired renal function, hepatopathy and neurocognitive defects. It is caused by a mutation of the gene encoding hepatocyte nuclear transcription factor 1 beta (HNF1β).Case 1: M...

Background: Genotype-phenotype correlations between various RET mutations and clinical manifestations of MEN 2 syndrome are well established. A discussion is still open if the FMTC phenotype really exists or if it is just a MEN2A variant. Aim of this study was to verify if the phenotype corresponding to the V804M germline mutation is restricted to FMTC.Methods: During the last 25 years, we have identified 200 families with a hereditary form of M...

Background: Calcifediol (25(OH)D3), the major circulating form and the direct precursor of the biologically active form of vitamin D, has been identified as an agonist ligand for vitamin D receptor (VDR) with anti-proliferative effects and gene regulatory function despite having a lower receptor affinity respect than the biologically active form of vitamin D3. In fact, recent studies have suggested that 25(OH)D3 can regulate gene expression by ...

Objective: The carbohydrate metabolism dysfunctions are common in critical ill patients with diabetes or stress hyperglycaemia and the correct management of them has an important prognostic value. Despite its limitations, capillary glucose (CG) was collected more than arterial glucose (gold standard) because of its good correlation. However, the usefulness of intermittent intersticial glucose monitoring (IGM) in keeping blood glucose within target range in critical ill patient...

Background: Multiple endocrine neoplasia of type 1 (MEN1) is a rare heritable endocrine tumor syndrome that results from biallelic inactivation of the MEN1 gene and the loss of menin protein, that was characterized by a susceptibility to the development of multiple endocrine neoplasms within a single patient. The MEN1 gene screening is helpful in the clinical practice for early genetic diagnosis. Unfortunately, the lack of genotype-phenotype correlation doesn’t allow to f...

Introduction: The SARS-CoV 2 pandemic has resulted in millions of deaths worldwide. It has been suggested that sex steroids may be involved in the prognosis of the disease.Material and methods: Male patients diagnosed with SARS-CoV-2 infection admitted to the Marqués de Valdecilla University Hospital (Spain). Testosterone, androstenedione, estradiol, DHEA and DHEAS were determined in the first 24 h of admission and severe COVID was defined as mortal...

Introduction: The prevalence of palpable thyroid nodules in Graves’ disease (GD) is approximately 15%. Cytopathologic interpretation in GD is challenging due to frequent cytomorphologic changes, namely after radioactive iodine (RAI) therapy. Some of the few published studies regarding fine-needle aspiration (FNA) in patients with GD, suggest an increased risk of malignancy of thyroid nodules arising in GD patients. However, the results are inconsistent, and there is no co...

Adrenocortical carcinoma (ACC) is a rare endocrine malignancy presenting with an incidence of 1 per million per year and an overall 5-year survival rate under 35%. Currently, curative treatment is limited to full surgical resection, while the adrenolytic drug mitotane remains the only approved medical therapy option leaving a huge demand for innovative therapeutic strategies. Genetic alterations observed in ACC commonly lead to activation of Wnt/β-Catenin signaling most f...

Introduction: Immunotherapy has demonstrated a key role in the current individualized treatment of multiple neoplasms, with adverse events related to the endocrine. Thyroid dysfunction is the most frequent reported endocrine event during treatment with pembrolizumab, being autoimmune diabetes an extremely rare adverse effect.Case Report: We present a case of a 72-year-old man with a progressing urothelial bladder carcinoma (stage IIIB), under treatment w...