Endocrine Abstracts

Introduction: X-linked adrenoleukodystrophy (X-ALD) is caused by a mutation in the ABCD1 gene, which encodes for a peroxisomal very long chain fatty acid (VLCFA) transporter. Clinically, X-ALD can present a wide spectrum of phenotypes, being the most frequent Adrenomyeloneuropathy, with ataxia, spastic paraparesis, sexual and sphincter dysfunction. Adrenocortical insufficiency (AI) occurs mainly in paediatric age and it can be the first manifestation of the disease in some cas...

Introduction: Primary mitochondrial disease is a heterogeneous group of disorders of mitochondrial energy metabolism. Neuromuscular symptoms are the main features, but diabetes mellitus (DM) is present in many patients. DM is related to a deficient energy production, which leads to decreased insulin secretion and ultimately to β-cell apoptosis. In most cases, DM has an insidious onset with requirement of insulin 2-4 years after diagnosis. About 20% of cases present with a...

Background: Childhood cancer survivors (CCS) are at high risk of 25-hydroxivitamin D (25(OH)D) inadequacy and the lack of a consensual definition has hampered its epidemiological study. Despite international recommendations, bone health and vitamin D inadequacy (VDI) are still quite undervalued, even in a high-risk population as CCS, due to disease treatment, physical limitations and insufficient solar exposure. Objectives: Our aims were to determine the...

Background: Studies suggest that diabetes mellitus (DM) is associated with greater risk of developing severe forms of COVID-19 and mortality.Aims: To compare clinical characteristics and outcomes in hospitalized COVID-19 patients with and without DM.Methods: A single-center, retrospective, observational study included adult patients with laboratory-confirmed COVID-19 treated at VUHSK between 2020-01-01 and 2021-03-31. Patients were...

Paragangliomas (PGL) and pheochromocytomas (PHEO) are rare neuroendocrine tumors with an estimated prevalence of 1:6500 and 1:2500, respectively. Although most PGL/PHEO are benign, approximately 10% of PHEOs and 15-35% of PGLs have metastatic disease, which it is main cause of death, with 6 years of median survival. Objective: To characterize the metastatic PHEOs and PGLs from a single center. Methods: Retrospective analysis of clinical records of patients with metastatic PHEO...

Introduction: Parathyroidectomy is the only curative treatment for primary hyperparathyroidism (pHPT) and has been traditionally performed through bilateral neck exploration (BNE). However, with the use of intraoperative parathyroid hormone (IOPTH) assay along with preoperative localization exams, minimally invasive surgery can be performed with good surgical success rate.Aim: To evaluate the usefulness of IOPTH assay in guiding adequate parathyroidectom...

Introduction: Hypoparathyroidism (hypoPTH) is one of the most feared iatrogenic complications of the surgical treatment for thyroid cancer (TC). Despite supplementation with calcium salts and calcitriol, hypoPTH seems to be associated with a negative impact on quality of life (QoL), which has not been evaluated in the Portuguese patients.Objectives: To evaluate the impact of hypoPTH on the QoL of Portuguese patients with TC and its correlation with serum...

Introduction: Several formulas are described to calculate the Insulin Dose to start insulin pump therapy. However, there are no data demonstrating their effectiveness in achieving good glycemic control.Aim: To assess the Total Daily Dose of Insulin (TDDI) at 3 months after beginning an insulin pump, and determine which formula most closely matches the TDDI required in cases where good glycemic control is achieved after that period....

Introduction and Aim: Dopamine receptor D2 (DRD2) polymorphism (rs1800497) appears to be associated with increased susceptibility to the development of type 2 diabetes mellitus (T2DM). The dopamine transporter (DAT) determines dopamine signalling, responsible for the reuptake of its active form from the synapse. Polymorphism in the DAT gene (rs2836317) can increase dopamine reuptake in the synaptic cleft. However, its association with T2DM is still controversial.<p class="...

Introduction: Polyglandular Autoimmune Syndromes (PAS) are a group of diseases characterized by the association of different endocrine and non-endocrine autoimmune pathologies. Although the diagnosis of PAS is more frequent in adulthood, it can occur in pediatric age, with PAS type 3 being the most frequent.Objective: To study the prevalence and characteristics of PAS in the pediatric population of a tertiary center.Methods: Retros...