Endocrine Abstracts

Next Generation Sequencing (NGS) is becoming widely used for genetic diagnosis. While its capacity for detection of human genetic variations (GV) is outstanding, drawbacks is the identification of numerous GV of which functional significance cannot be predicted in silico by computer programs (variants of uncertain significance, VUS). Currently, only sensitive (but also expensive and time-demanding) in vitro cell assays, can trustfully ascertain pathogenicity ...

Introduction: Adrenal incidentalomas (AIs) are defined as adrenal masses measuring 10 mm or more in diameter, incidentally discovered on imaging exams performed for a non-adrenal disorder. The aim of this study is to provide a clinical and imagiological characterization of patients diagnosed with AIs followed in our institution.Methods: We conducted an observational and retrospective study that included patients with AIs evaluated at our institution betw...

Introduction: A simple linear anthropometric linear equation for total body fat quantification in adults was recently selected as the best of 365 anthropometric indexes in the American population. The authors intend to evaluate the correlation between the relative fat mass (RFM) equation and body fat determination by electric bioimpedance (EB) and compare it with BMI.Material/methods: Retrospective, cross-sectional, observational study that selected all ...

Introduction: Gestational Diabetes Mellitus (GDM) is one of the pregnancy diseases with the highest rate of complications, influenced by several factors. Its prevalence has increased, with a prevalence of 7.2% in Portugal.Objective: Characterize pregnant women with GDM and evaluate the perinatal outcomes according to the country of origin and previous GDM.Material and methods: Cross-sectional and retrospective study. We collected c...

Introduction: Anti-Müllerian Hormone (AMH) is a useful marker of ovarian reserve (OR), since it remains stable inter/intra-cycles and presents a good correlation with ultrasonographic antral follicular count. Obesity/overweight are increasing and may affect the reproductive health. However, previous studies regarding the effect of body mass index (BMI) on AMH levels are discordant. Our main goal was to evaluate the influence of BMI in AMH levels in women with infertility....

Introduction: Calcium replacement after Thyroid surgery has been changing along times. The aim for this replacement is to avoid hypocalcaemia effects after thyroid surgery but not all the patients seem to need it. Parathyroid hormone (PTH) has a short half-life after its release into the bloodstream, making it a good marker of calcium metabolism in short time after surgery.Method: Prospective study of Endocrine Surgery Multidisciplinary group of one Cent...

There is a clinical spectrum of non-classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NC-CAH). In addition, CYP21A2 gene mutations analysis present in homozygosis or as compound heterozygosis.Objectives: To evaluate the relationship between the genotype and biochemical profiles and also compare with clinical severity in NC-CAH.Patients and methods: Clinical, hormonal and molecular data of 57 patien...

Introduction: GEP-NETs incidence increased markedly over the past decades probably due to increased imaging. GEP-NETs are generally indolent but often have unpredictable biological behavior and aggressive clinical course.Aims: To collect information regarding demographics, presentation, pathology characteristics, treatment and outcome of GEP-NETs.Methods: Following approval of our institutional ethical board, pathology and clinical...

Introduction: Prevalence of hypothyroidism is 2–5% in women in the reprodutive age group. Hypothyroidism can affect fertility due to anovulatory cycles, luteal phase defects, hyperprolactinemia and sex hormones imbalance. Some data also report that TSH levels are inversely proportional to the fertilization rate at ART (assisted reproductive technologies).Objective: To evaluate if a relationship exists between pregnancy rates in women undergoing ...

Introduction: Amiodarone is an antiarrhythmic iodine-rich drug, known to induce thyroid dysfunction both due to its high iodine content and through amiodarone-induced thyrotoxicosis (AIT), being this latter process classified into three different types. Type 1 is associated with increased thyroid hormone synthesis; type 2 is a destructive process with thyroid hormone release and type 3 is thought to be a mixture of the former two. Since treatment options are different, there h...