Searchable abstracts of presentations at key conferences in endocrinology

ea0035p312 | Clinical case reports Thyroid/Others | ECE2014

Diagnosis of neonatal diabetes mellitus in the mother through the detection of hyperglycemia in her child

Torres Isabel , Santos M Angeles , Castano Luis

Introduction: Neonatal diabetes mellitus (NDM) is a rare disease diagnosed within the first months of life that is usually permanent in 50% of cases. Heterozygous mutations of KCNJ11 and ABCC8 genes encoding the two Kir6.2 and SUR1 subunits of the b-cell ATP-dependent potassium channel have been associated with NDM, which is characterized by a successful response to sulfonylureas.Case report: We present a 32-year-old woman diagnosed wit...

ea0070aep537 | Endocrine-related Cancer | ECE2020

Pheochromocytoma due to TMEM127 mutation – the importance of genetic test for clinical decision

Paredes Silvia , Lopes Sara , Torres Isabel , Alves Marta

Background: Catecholamine-secreting tumors that arise from chromaffin cells of the adrenal medulla and the sympathetic ganglia are respectively referred to as pheochromocytomas and paragangliomas. The classic triad of symptoms in patients with pheochromocytoma (PHEO)consists of episodic headache, sweating, and tachycardia. Approximately one-half have paroxysmal hypertension; the rest have either primary hypertension or normal blood pressure. Clinicians should always consider P...

ea0032p202 | Cardiovascular Endocrinology & Lipid Metabolism | ECE2013

Dyslipidemia associated with m-TOR inhibitors treatment

Couto Joana , Martins Raquel , Carneiro Filipa , Santos Ana Paula , Torres Isabel

Introduction: Therapeutic approach of patients (pts) with metastatic renal cell carcinoma (mRCC) may include the use of biological agents such as m-TOR inhibitors: temsirolimus (TM) and everolimus (EV). Its use is associated with metabolic dysfunction, especially with everolimus: hyperglycemia (37% TM treated pts vs 72% EV treated pts), hypercholesterolemia (25% TM treated pts vs 81% EV treated pts) and hypertriglyceridemia (30% TM treated pts vs 73% EV treated pts). Discontin...

ea0056ep5 | Adrenal and Neuroendocrine Tumours | ECE2018

Isolated pheochromocytoma associated with mutation in the SDHAF2 (SDH5) gene: rare and challenging clinical case

Oliveira Sofia Castro , Santos Ana Paula , Goncalves Ligia , Ferreira Goncalo , Lima Jorge , Teixeira Manuel , Torres Isabel

Introduction: Pheochromocytomas/paragangliomas are rare neuroendocrine tumors. Although mostly sporadic, about 1/3 of the cases correspond to inherited autosomal dominant syndromes, often associated with germline mutations of the SDHD, SDHC and SDHB genes. The association with the SDHAF2(SDH5) gene has been recently discovered, with only few cases published worldwide, and it presents as a paraganglioma of the head and neck, without previous known description of other locations...

ea0081ep570 | Endocrine-Related Cancer | ECE2022

Insulinoma in a patient with a crest syndrome

Cornejo Dominguez Jesus Manuel , Gavira Maria Isabel Mateo , Larran Escandon Laura , Rodriguez Maria del Mar Roca , Barea Isabel Torres

Introduction: Insulinomas are pancreatic neuroendocrine tumors (PNET), characterized by insulin hypersecretion syndrome with the development of hypoglycemia. The incidence of the tumor is 3-10 cases per million inhabitants. The average age of onset is 40-50 years old, being more frequent in women. Case Reports: We present a clinical case of a patient with CREST syndrome and difficult-to-control hypoglycemia. Female patient, 81 years old, with a history o...

ea0063p181 | Diabetes, Obesity and Metabolism 1 | ECE2019

Gestational diabetes mellitus and continuous glucose monitoring: glycemic patterns and pregnancy outcomes

Rosa Marquez-Pardo , Isabel Torres-Barea , Doncel Lourdes Garcia-Garcia , Concepcion Cruzado-Begines , Maria-Gloria Baena-Nieto

Introduction: Gestational diabetes mellitus (GDM) is associated with an increase risk of neonatal and maternal complications. Continuous glucose monitoring (CGM) detects glycemic patterns, which could help predict the development of maternal-fetal complications.Objective: To analyze the different glycemic patterns obtained with CGM and to correlate them with the appearance of maternal-fetal complications in GDM.Methods: Women with ...

ea0049ep146 | Endocrine tumours and neoplasia | ECE2017

Glucose metabolism abnormalities and insulin resistance are frequent in well diferentiated digestive NETs

Santos Ana P , Santos Ana C , Castro Clara , Raposo Luis , Torres Isabel , Henrique Rui , Monteiro Mariana P , Cardoso M Helena

Introduction: Incidence of Digestive NETs (DNETs) has increased in the last 40 years. Visceral obesity, metabolic syndrome (MetS) and insulin resistance (IR) have been associated with several types of cancer.Aim: To evaluate possible associations of obesity, hyperinsulinemia and IR with well-differentiated (WD) DNETs through a case control study.Materials and methods: Ninety-six patients with gastrointestinal (75.0%) and pNET (22.9...

ea0070ep447 | Thyroid | ECE2020

Mixed medullary-papillary thyroid carcinoma with mixed lymph node metastases

Guerreiro Vanessa , Costa Cláudia , Oliveira Joana , Santos Ana Paula , Farinha Mónica , Freitas Paula , Torres Isabel

Introduction: Medullary thyroid carcinoma (MTC) and papillary thyroid carcinoma (PTC) are two distinct neoplasms originating from follicular and parafolicular-C cells, respectively. These pathologies have always been considered different from each other in terms of their incidence, their cell origin and their histopathological features. Concurrent occurrence of MTC and PTC in the same patient is an unusual event and its occurrence as true mixed medullary-follicular-derived car...

ea0032p1089 | Thyroid cancer | ECE2013

68Ga-DOTA-NOC PET/CT role in the follow-up of patients with medullary thyroid carcinoma

Couto Joana , Martins Raquel , Lucena Ines , Menezes Joana , Santos Ana Paula , Rodrigues Elisabete , Duarte Hugo , Torres Isabel

Introduction: About 50% of patients with medullary thyroid carcinoma (MTC) have persistent or recurrent disease after surgery.For a calcitonin (ct) value greater than 150 pg/ml, it is suggested by international guidelines performing additional imaging exams (AIE) for evaluating the presence of distant metastasis. It is often difficult to assess the presence of nodal disease and secondary liver lesions (often miliary) by ‘morphological’ imaging ...

ea0022p827 | Thyroid | ECE2010

Cito-histologycal correlations in nodular thyroid pathology

Couto Joana , Lobo Claudia , Barbosa Ana Paula , Martins Raquel , Santos Ana Paula , Monteiro Paula , Amaro Teresina , Torres Isabel

Introduction: Fine needle biopsy (FNB) is a very important diagnostic tool in the assessment of thyroid nodules and plays a prominent role in therapeutic approach. It has a sensitivity around 83 to 85% and a specificity around 80 to 92%.Aims: To correlate cytological (FNB) and final histopathological data in patients with nodular thyroid pathology.Methods: A retrospective study of patients who underwent surgical procedure from Janu...