Endocrine Abstracts

BackgroundAromatase deficiency is an extremely rare autosomal recessive condition due to mutations on CYP19A1 gene. Despite the size and complexity of this gene, only about 40 cases with aromatase deficiency have been reported.Case reportThe patient was born at term from non-consanguineous parents. Maternal signs of virilization were verified during third trimester (deep voice, acne on arms and face ...

IntroductionMyxedema coma is a rare condition with an estimated incidence of 0.22 per million per year in the western world and a mortality rate around 30–50%. It can occur as the result of severe longstanding hypothyroidism or be precipitated by an acute event, such as infection. We present a rare case of myxedema coma in an elderly woman with SARS-CoV-2 infection.Case reportAn 82-year-old woman, with n...

Introduction: By Next Generation Sequencing (NGS) our team identified in two families presenting a phenotype compatible with familial non-medullary thyroid carcinoma (Family C and Family R), two new potentially pathogenic germline mutations. Family C presented p.Gly106Arg mutation in the KCNB2 gene, that codifies a voltage-gated potassium channel (vgKCN). Since potassium efflux by the cell is a necessary condition for cellular homeostasis, vgKCN disruption can impact the funct...

Introduction: Obesity is a chronic disease whose association with increased cardiovascular morbidity and mortality, including heart failure, is well established. Not only is obesity intricately connected with an increased prevalence of concurrent risk factors, such as coronary artery disease, hypertension, diabetes mellitus, and obstructive sleep apnea, but it also exerts a direct impact on myocardial structure and pump performance. Over time, prolonged obesity fosters cardiac...

Introduction: We conducted a prospective study to compare the efficacy of continuous glucose monitoring (CGM) devices versus capillary blood glucose (CBG) in the glycemic control of inpatient type 2 diabetes on intensive insulin therapy. The use of CGM was associated with improved glycemic control, including an increased time in range (TIR) and reduced hyperglycemic events, being safe concerning hypoglycemias. The present study is the cost-effectiveness analysis associated wit...

Introduction: Sodium-glucose co-transporter 2 inhibitors (SGLT2i) have emerged as a promising class of medications, demonstrating a significant reduction in the risk of cardiovascular events. An associated consequence of SGLT2i is an increase in hematocrit levels, with cardiovascular outcome trials revealing frequent hematocrit mean elevations varying from +2.3% to 3.5%. This rise in hematocrit introduces a potential dilemma when evaluating the risk-benefit profile of SGLT2i i...

Introduction: The immune checkpoint inhibitors (ICI) are increasingly being used in the treatment of several malignancies. ICI are monoclonal antibodies that inhibit immune checkpoints, thus stimulating the action of the immune cells to attack the tumour cells. The overstimulation of the immune system can lead to several endocrinopathies, such as autoimmune diabetes, known as ICI-associated diabetes mellitus (ICIDM).Case Report: In September 2023, a 62-y...

Introduction: Adrenal hematomas are a relatively rare clinical condition and its prevalence has been reported to be about 1%. Although various causes have been proposed, the ethology and pathophysiology are still not fully understood, and the symptoms range is very variable, from asymptomatic situations to haemorrhagic shock. Imaging is a challenging method to establish the diagnosis of adrenal hematomas, and in most cases, it is only possible after surgery. Surgery is routine...

Context: Little is known about the frequency of key mutations in thyroid cancer metastases and its relationship with the primary tumor genotype.Objectives: To evaluate the frequency of TERT promoter (TERTp), BRAF and NRAS mutations in metastatic thyroid carcinomas, analyzing primary thyroid tumors, lymph node metastases (LNM) and distant metastases.Material and Methods: Mutation analysis was performed in 437 tissue samples from 204...

Introduction: Primary adrenal insufficiency (PAI) is a rare but severe and potentially life-threatening condition. There are no studies characterizing portuguese patients with PAI.Aims: To characterize the clinical presentation, diagnostic workup, treatment and follow-up of patients with confirmed PAI.Methods: A multicentre retrospective study of PAI patients followed in 12 portuguese hospitals.Results: We in...