Endocrine Abstracts

Objective: The purpose of this study was to assess clinical outcomes of patients with toxic adenoma (TA) treated with Radioactive Iodine (RAIT) in a tertiary hospital over a period of 8 years. We also analysed the influence of age, gender, TSH at diagnosis and anti-thyroid drugs (ATD) previous to RAIT on the cure rate.Methods: Retrospective analysis of clinical records of all patients with TA submitted to RAIT between 2008 and 2015. The influence of demo...

Introduction: Thyroid ultrasonography and fine needle aspiration (FNA) are the most useful techniques in the evaluation of thyroid nodules. They are cheap, fast, minimally invasive and high precision methods. The FNA can be performed by palpation or ultrasound guidance. The use of ultrasound reduces the nondiagnostic results rate. However, the cytologic diagnostic accuracy depends on the technique and pathologist experience. Ultrasonography confirms the presence of a thyroid n...

IntroductionParagangliomas (PGL) of the urinary bladder are an extremely rare entity. During pregnancy, PGL can carry higher risk of foetal and maternal mortality, which can be significantly reduced when the diagnosis is made antepartum and adequate multidisciplinary management and surveillance is started. However, despite clinical stability, delivery complications rates are still higher than in the general obstetric population.Cas...

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: 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...

Introduction: Several studies suggest a higher risk of colorectal cancer (CRC) and colon polyps (CP) in acromegaly, however there is still controversy regarding associated factors (AF) able to contribute for its development. Data on the prevalence of CRC and CP in Portuguese patients with acromegaly are limited.Objectives: To assess the prevalence of CRC and CP in acromegalic patients and compare to the normal Portuguese population. To determine the rele...