Endocrine Abstracts

Background: Pendred syndrome (PS) is an autosomal recessive disorder characterized by defective organification of iodine, goiter and deafness. It is caused by mutations in pendrin gene (SLC26A4), a transporter of chloride/iodide that mediates the efflux of iodine from thyroid follicular cells to the follicular lumen.Clinical case: Case-index: MJFS, female, refered to consultation at 35 years for enlarged neck. Personal history: congenital deafness, thyro...

Introduction: Glycated hemoglobin A1c (A1C) is used for diagnosis and monitoring diabetic patients. The precision of A1C assay methods is affected by the presence of hemoglobin variants. About 7% of world population is asymptomatic carrier of these variants.Case report: PCIMR, woman, 42 years old, caucasian, followed in consultation for obesity, primary hypothyroidism and bipolar disorder. Had family history of obesity and sudden death of her father at 5...

Background: Pancreatic cancer (PC) is rare, representing 6.8% of mortality in our country. Diabetes mellitus (DM) is often associated. Main hypothesis include: PC triggers DM; DM is a risk factor for PC; diabetes treatment modifies cancer risk.Objective: To evaluate DM and PC association.Methods: Evaluation of patients with PC (2006–2009), divided into: group A (without DM) and group B (with DM). Parameters evaluated: age, gen...

IntroductionNeurofibromatosis type 1 (NF-1) is a relatively frequent syndrome, with an estimated incidence of 1/3000 per year. Patients with NF-1 are at an approximately fourfold higher risk of developing tumors than the general population, most frequently gastrointestinal stromal tumors, central nervous system tumors and endocrine tumors. Pheochromocytoma may occur in about 1% of these patients.Case report: We report a 56-year-old...

Background: Apart from signs of hyperprolactinaemia, patients with macroadenomas with extrasellar extension generally seek medical attention due to mass effect. Macroprolactinomas, particularly in men, may occasionally exhibit a very aggressive clinical course.Case report: Male 37 years old that went to a Neurology consultation complaining of progressively more frequent self-limiting episodes of restraint, silence and time and space disorientation in the...

Turner’s Syndrome is one of the most common chromosomal abnormalities found in 1 in 2500 live female births. Y chromosome material is detected in up to 6% of patients by karyotype, but with new technologies (DNA analysis), Y chrmosome sequences have been reported in 60% of patients. The presence of Y material has been associated with virilization and with the development of gonadal neoplasia.Aim: Determine the frequency of Y chromosome sequences in ...

Background: Noonan syndrome (NS) is a relatively common disease, clinically and genetically heterogeneous. It is characterized by facial dysmorphia, growth retardation, congenital heart disease, lymphatic dysplasia, among others. The diagnosis is clinical, according to van der Burgt criteria. In 61% of cases genetic mutations in the signaling pathway of RAS-MAPK are identified.Clinical case: BVM, male, NS suspected. At 3 years old sent to Pediatric Endoc...

Background: Therapy with levothyroxine (L-T4) is essential in hypothyroidism treatment. The marked elevation of thyrotropin (TSH) in patients treated with appropriate doses of L-T4 is rare and can result from malabsorption, drug interaction or poor adherence. The non-adherence, omitted by the patient, is called pseudo malabsorption.Clinical report: ACCS, female, 30 years old, hospitalized for persistent...