Searchable abstracts of presentations at key conferences in endocrinology

ea0040p18 | (1) | ESEBEC2016

Massive bilateral pheocromocitomas: a rare case

Martins D , Baptista C , Rodrigues D , Miguel Melo , Cardoso L M , Vicente N , Oliveira D , Ventura M , Lages A , Carrilho F

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...

ea0073aep587 | Reproductive and Developmental Endocrinology | ECE2021

Endocrine features in Noonan syndrome

Inês Vieira , Bastos Margarida , Ruas Luísa , Rodrigues Dírcea , Gomes Leonor , Paiva Isabel

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 (...

ea0070aep93 | Adrenal and Cardiovascular Endocrinology | ECE2020

Type 1 neurofibromatosis and malignant pheochromocytoma

Vieira Inês , Catarino Diana , Fadiga Lúcia , Silva Diana , Guiomar Joana , Lavrador Mariana , Pinheiro Sara , Moreno Carolina , Rodrigues Dírcea , Paiva Isabel

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 ...

ea0070ep60 | Bone and Calcium | ECE2020

GNAS mutation and affection of the endocrine system and bone: An analysis of 3 clinical cases

Vieira Inês , Catarino Diana , Fadiga Lúcia , Silva Diana , Guiomar Joana , Lavrador Mariana , Pinheiro Sara , Bastos Margarida , Rodrigues Dírcea , Paiva Isabel

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...

ea0029p412 | Clinical case reports - Thyroid/Others | ICEECE2012

Pseudo malabsorption of levothyroxine

Alves M. , Rodrigues D. , Baptista C. , Ribeiro C. , Oliveira P. , Vieira A. , Gouveia S. , Saraiva J. , Moreno C. , Bastos M. , Carvalheiro 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...

ea0011p331 | Diabetes, metabolism and cardiovascular | ECE2006

Effects of weight loss on the coronary risk profile in obese patients two years after bariatric surgery

Melo M , Rodrigues D , Campos MV , Guimaraes J , Fagulha A , Figueiredo J , Manso C , Tralhão G , Milheiro A , Castro e Sousa F , Carvalheiro M

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...

ea0083erco2 | Endocrine-related Cancer | EYES2022

Ablation of Znrf3 & Trp53 induces metastatic adrenocortical carcinoma in mice

J. Wilmouth JR , J. Olabe , L. Landwehr , L. Pucheu , D. Dufour , F. Roucher-Boulez , C. Lucas-Rodrigues , D. Garcia-Garcia , C. Damon-Soubeyrand , M. Kroiss , M. Fassnacht , A. Lefrancois-Martinez , A. Martinez , P. Val

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...