Endocrine Abstracts

Introduction: Congenital adrenal hyperplasia (CAH) encompasses a group of enzymatic defects in cortisol biosynthesis resulting in adrenal hyperplasia through chronic compensatory ACTH stimulation. Aldosterone synthase deficiency, however, is associated with normal cortisol secretion and there are no reports on whether it may be associated with adrenocortical hyperplasia.Case Presentation: A 37-year-old, Greek female was referred for further investigation...

Background: Molecular mechanisms underlying the pathogenesis of adrenocortical adenomas (ACAs) and autonomous cortisol secretion remains frequently unexplained despite previous comprehensive genomics studies.Aim: To gain novel insights into molecular pathogenesis of adrenocortical tumours by investigating transcriptome profiles of ACAs at single-nuclei resolution (snRNA-Seq), using adult human normal adrenal glands (NAGs) as reference.<p class="abste...

Objective: Defining thyroid function test abnormalities in pregnancy is complicated by changes in maternal physiology. Ideally, reference intervals (RIs) should be population-based and pregnancy-specific. Large methodological differences between published reports limit the adoption of such RIs into clinical practice.Methods: The study was performed in the Consortium on Thyroid and Pregnancy. In line with current consensus and the 2017 American Thyroid As...

The most frequent mutation in papillary thyroid carcinoma (PTC) is the p.V600E of the BRAF gene. This mutation leads to the aberrant activation of the RAS / BRAF / MEK / ERK pathway and consequently to the under-regulation of thyroid-specific genes, resulting in uncontrolled growth and de-differentiation of cancer cells. In this work, we analyzed the transcriptomics data produced by the TCGA project using a network approach. The analysis led to the identification of r...

Since the first description of pseudohypoparathyroidism (PHP) a remarkable clinical variability was observed. In 2016 a new classification of this group of diseases have been published by the European Network on PHP and related disorders, proposing “inactivating PTH/PTHrP signaling disorder” (iPPSD) as a new term that encompasses all the clinical entities. PHP and related disorders vary in clinical presentation and disease severity, and clinical features usually deve...

Introduction: In Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH), cortisol secretion may be consecutive to physiological stimuli, through the illegitimate expression of G-protein coupled receptors (GPCR) in adrenocortical cells. The most characterized is the overexpression of GIP receptor (GIPR) leading to food-dependent Cushing syndrome (FDCS) but it has not been associated with the consecutive inactivation of ARMC5 responsible for 25% of PBMAH. This work aimed to ...

Background: The risk of a second brain tumour following radiotherapy for pituitary adenoma or craniopharyngioma in adults is currently unclear. Studies are methodologically limited by small patient sample size, few case events, selection biases or the use of inappropriate controls.Objective: To ascertain whether radiotherapy delivered to adults with pituitary adenoma or craniopharyngioma is associated with an increased second brain tumour risk using appr...

Non-alcoholic fatty liver disease (NAFLD) is a spectrum of disease ranging from simple intrahepatic lipid accumulation to fibrosis, cirrhosis, and hepatocellular carcinoma (HCC). 5β-reductase (AKR1D1) is a liver enzyme that catalyses a fundamental step in bile acid (BA) synthesis. Both BAs and BA intermediates are established as potent regulators of metabolic and proliferative phenotype. We have hypothesised that AKR1D1 plays a crucial role in NAFLD and HCC. Human liver b...

Introduction: Acute Kidney Injury (AKI) is highly prevalent during hospitalization of patients with type 2 diabetes (T2D), and has been associated with increased risk of hypoglycaemia in Intensive Care Units. However, this association in non-critically ill patients is less clear and evidence on the impact of AKI’s severity and duration on hypoglycaemia is lacking.Objectives: To assess the impact of AKI and its severity and duration on the risk of hy...

Lifelong thyroid health depends on establishment of thyroid gland structure and function during early life development. However, thyroid development can be disrupted and lead to early- or adult life thyroid disorders. Still, the molecular machinery underpinning thyroid gland development remains poorly understood, particularly after the onset of fetal thyroid function. Here we used bulk-RNA-barcoding and sequencing (BRB-seq) to map the thyroid gland transcriptome as it undergoe...

Background: Pancreatic Neuroendocrine Tumors (PanNETs) are highly prevalent in Multiple Endocrine Neoplasia type 1 (MEN1) and one of the main causes of mortality. Conventional imaging is the mainstay of PanNET screening/surveillance in MEN1. This study aims to assess the diagnostic accuracy of conventional pancreatic imaging studies and to determine the added value of pancreatic fine needle aspirations (FNA) for the diagnosis of MEN1-related PanNETs.Meth...

The adrenal glands serve as central organs of the endocrine system by producing steroid hormone essential for organismal homeostasis. Mechanisms ensuring proper adrenal homeostasis and function are therefore crucial for maintaining human life. ACTH, released by the pituitary corticotrope, is required for the differentiation of the inner part of the adrenal cortex (the zona fasciculata) and the resultant stimulation of cortisol production. Perturbation of ACTH signaling can lea...