Endocrine Abstracts

Introduction: Insulinomas are almost always located in the pancreas and are usually small. The peak incidence is from the third to fifth decade of life, with females being slightly more frequently affected. The average duration of neuroglycopenic symptoms prior to diagnosis is often prolonged, being more than 5 years in 20% of patients.Case presentation: Female, 52 years old, medical history notable for hypertension, dislipidemia and Graves disease. She ...

Introduction: McArdle disease is a rare recessive disorder of glycogen metabolism, related to muscle phosphorylase deficiency. It usually presents in adolescence or early adulthood with muscle cramps, exercise intolerance, easy fatigability, and progressive weakness as glycogen is the primary source of energy for intense muscle activity. Few reports described the association of McArdle disease and type 2 diabetes and some authors suggested that hyperglicemia and hyperinsulinem...

Introdution: Central diabetes insipidus(CDI) is a rare disease, with multiple aetiologies such as cranioencephalic traumatism and multiple sclerosis (ME). However, the association with ME is not commonly described. The clinical suspicion must be made in the presence of polyuria and polydipsia.Case report: Woman, 67 years-old, revealing history of ME relapsing-remitting subtype with 8 years of evolution, hypertension and dyslipidemia, medicated with inter...

Several pathological processes contribute to the development and progression of pulmonary arterial hypertension (PAH), which is a disorder with high morbidity and mortality rates. However, although cardiac manifestations are common in hyperthyroidism (HT), they have been seldom described in association with HT. Thus, the objective of this study was to evaluate echocardiographic parameters in patients with Graves Disease (GD) during uncontrolled hyperthyroidism and after its re...

Objective: To analyse the effects of bariatric surgery on the global coronary risk profile two years after the surgical procedure.Methods: A total of 32 class III obese patients, 6 men and 26 women, mean age 34.3±8.5 years, were included. Total Cholesterol (TC), HDL, triglycerides, Blood Pressure (BP), presence of diabetes and smoking were evaluated before and two years after bariatric surgery. The 10 year Framingham coronary heart disease risk scor...

Undifferentiated/Anaplastic thyroid carcinoma (ATC) is one of the most aggressive and deadly cancers. It is characterized by loss of thyroid expression markers and no response to conventional treatments. ATC incidence is low representing <2% of all thyroid carcinomas. This, together with its high mortality, makes difficult the development of clinical trials. In our previous works, we have developed a system to culture patient-derived thyroid cancer cells (h7H) that is a go...

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...

IntroductionPrimary hyperparathyroidism (PHPT) is a common endocrine disorder and classically associated with hypercalcemia (HHPT). There is a newest variant of PHPT, defined by normal albumin-corrected calcium levels - normocalcemic PHPT (NHPT) – which may represent an early stage of HHPT. Nevertheless, there is limited data on how this variant presents clinically and biochemically.AimTo evaluate the de...

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...