Endocrine Abstracts

Introduction: Pheochromocytoma is a rare catecholamine-secreting tumor that arises from the chromaffin tissue of the adrenal medulla. Of the reported cases, only 10% consist in bilateral lesions and the probability of multiple endocrine neoplasia should always be investigated.Clinical case: Female patient, 19 years old, presented with a clinical history with 2 years of evolution, characterized by episodes of palpitations, headache, nausea and abdominal d...

IntroductionNoonan syndrome can result from different mutations, the most frequent being in PTPN11. The diagnosis is often made by the clinical picture of short stature, facial dysmorphisms and heart defects. From an endocrine point of view, growth retardation, hypogonadism and a higher frequency of thyroid autoimmunity are highlighted.ObjectivesTo analyse endocrine features in patients with Noonan syndrome (...

Introduction: Neurofibromatosis type 1 is a disease caused by mutations in the tumor suppressor gene NF1.Although pheochromocytoma is a rare manifestation in these patients (~0.1–5.7%), the incidence is significantly higher than that of the general population.Results (case description): A 50 years old female patient had a clinical diagnosis of neurofibromatosis type 1 since she was 5 years old. She received follow-up in ...

Introduction: Activating and inactivating mutations of the GNAS gene (encoding the Gsα protein) cause McCune–Albright Syndrome and Albright’s Hereditary Osteodystrophy, respectively. In both, the bone and the endocrine system are often affected. In McCune–Albright Syndrome the most common endocrine manifestation is precocious puberty, but thyroid lesions and hormonal overproduction are also described. In Albright’s Hereditary Osteodystrophy there m...

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...

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...

Background: Adrenocortical carcinoma (ACC) is an aggressive cancer originating from steroidogenic cells within the adrenal cortex. Unfortunately, half of patients present with metastatic spread upon initial diagnosis, and there is no curative therapy for advanced disease. Genomic analysis has identified that the most aggressive subgroup of ACC patients have overlapping alterations in the WNT/β-catenin pathway and the p53/RB signaling pathway.Objecti...