Endocrine Abstracts

BackgroundAutosomal dominant hypocalcaemia, caused by either inherited or de novo mutations in calcium-sensing receptor gene (CASR), is biochemically characterized by the presence of hypocalcaemia, hypercalciuria and inappropriately low levels of PTH. Receptor-activating mutations induce an increase sensitivity to calcium by parathyroid and renal cells, leading to suppression of PTH synthesis and consequently hypocalcaemia. Clinical manifestations are va...

IntroductionHeterozygous familial hypercholesterolemia is one of the most common genetic disorders and it is associated with an at least ten times higher risk of coronary heart disease. Frequently, it is necessary to medicate the patients with PCSK9 inhibitors (PCSK9i) so they can reach LDL-c target values. In Portugal, the only evolocumab is available and the most commonly reported adverse effects are local pruritus and upper airway symptoms.<p clas...

IntroductionThe Carney Complex (CNC) is a rare, autosomal dominant, multiple endocrine neoplasia. It involves multiple endocrine glands, cardiac and skin myxomas, mammary fibroadenomas and mucocutaneous pigmentation. Cushing’s syndrome, due to primary pigmented nodular adrenocortical disease (PPNAD), is described in 25% of the cases.Case reportWoman, 21-year-old, was refered for secondary amenorrhea. Med...

IntroductionPrevious studies in women with idiopathic infertility have shown that obesity does not independently contribute to the decrease in the success of assisted reproductive technology (ART) techniques. However, few studies evaluated the success rate of ART between obese and non-obese women in infertility associated with PCOS.ObjectiveTo compare the number of oocytes, mature oocytes, number of embryos a...

Background: Adrenal insufficiency (AI) is a rare condition affecting children, potentially life-threatening. Autoimmune adrenalitis accounts for 15% of all cases of primary adrenal insufficiency in pediatric age. Most symptoms are usually unspecific, making the diagnosis quite challenging.Objective: The aim of the study was to describe clinical presentation, biochemical abnormalities, treatment and the clinical course of patients with autoimmune AI.<...

Background: Ferroptosis is an emerging form of regulated necrotic cell death characterized by excessive lipid peroxidation. Adrenocortical carcinoma (ACC) cells have been shown to be highly susceptible to ferroptosis caused by active steroid hormone synthesis. While therapeutic activation of ferroptosis has been proposed as a novel treatment strategy, its impact on the tumor immune microenvironment (TIME) remains elusive. Macrophages are an important TIME component and modulat...

Background: An increasing number of people with type 1 diabetes (TlD) have co-existing insulin resistance (IR). Our goal was to investigate whether IR is associated with continuous glucose monitor (CGM)-derived parameters (glucometrics) such as time in range (TIR), time above range (TAR), time below range (TBR) and glycaemic variability (CV).Methods: This is a retrospective analysis of two separate clinical studies (NCT0...

Introduction: The Neuroendocrine Tumors Study Group of the Portuguese Endocrine Society (SPEDM) performed the first observational study between November 2012 and July 2014 too assess the profile of Gastroenteropancreatic Neuroendocrine Tumours (GEP-NET) patients (pts) followed at the main Portuguese hospitals. Several demographic and clinical data were collectedObjective: Characterize the clinicopathological features and treatment of patients with NET or...

Introduction: Many studies showed that H. pylori infection could be an independent predictor for insulin resistance and could regulate metabolism and body weight.Aim: To evaluate changes in metabolism induced by an oral glucose tolerance test (OGTT) before and after antibiotic eradication treatment in patients colonized by H. pylori.Materials and method: Prospective case-controlled study with a sample of patients colonized by H. py...

Introduction: Squamous cell thyroid carcinoma is a very rare malignant epithelial tumour. It presents as rapid growth cervical mass, may affect neighbour structures and sometimes metastasizes other parts of the body. It’s often associated with previous goiter history and occasionally with autoimmune thyroiditis. It can appear pure, as a component of undifferentiated carcinoma, or combined with differentiated carcinoma areas (papillary or follicular).<p class="abstext"...