Endocrine Abstracts

Background: Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a autosomal recessive disorder with only up to 500 reported cases. It is characterized by generalized absence of fat since birth and severe metabolic derangements such as insulin resistance, hyperglycemia and dyslipidemia. Diabetes mellitus generally develops during the second or third decade of life. This is a rare clinical condition, with worldwide prevalence of 1 in 10 million people and incidence of 1:500.000...

Paediatric Graves’ disease (PGD) is an uncommon autoimmune disorder with a multifactorial origin. Although, in some autoimmune endocrinophaties the seasonality of month of birth (MOB) distribution differed from the general population, this association has not been study in PGD. The aim of this work was to analyse the impact of seasonality of MOB on PGD incidence in Portugal.In 2013, the Portuguese Paediatric Society of Diabetes and Endocrinology und...

Spindle cell oncocytoma (SCO) is a rare entity with just 18 cases reported in the literature. It was first described in 2002 and was codified as a separate diagnostic entity in the 2007 WHO classification of brain tumours. SCO is a nonadenomatous sellar neoplasm with rich vascularization and intra and supra-sellar infiltration. Usual clinical presentation consists of headache, visual field defects and pan-hypopituitarism. The preoperative diagnosis is difficult due to a lack o...

Thyroid storm (TS) is one extreme of a continuum beginning with thyrotoxicosis. It’s rarely caused by exogenous thyroid hormone intake (ETHI). Aggressive medical therapy is the cornerstone of treatment; nevertheless, it might not be sufficient. Plasmapheresis is an extracorporeal technique that can rapidly lower thyroid hormone levels. The aim of this study was to assess the efficacy of plasmapheresis in TS secondary to ETHI. We evaluated retrospectively all TS cases (Bur...

Introduction: Pheochromocytomas (PHEO) and paragangliomas (PGL) are rare catecholamine-secreting tumors. Some authors proposed that there is a positive linear relationship between tumor size and measurements of metanephrines and an absence of association with catecholamine levels.Objectives: To review and characterize patients diagnosed with PHEO and PGL in Garcia de Orta Hospital. To determine the relationship between tumor size and measurements of urin...

The use of 18F-fluorodeoxyglucose positron emission tomography (18F-FDG–PET) has increased the detection of thyroid incidentalomas (TI). These are associated with a risk of malignancy between 25 and 50%. Some studies show an association between SUVmax uptake and malignancy.The objective of this study was to determine the prevalence of malignancy on 18F-FDG–PET positive thyroid nodules and to evaluate the relatio...

Introduction: IgG4-related Hashimoto’s thyroiditis (HT) is a very recently reported entity, characterized by thyroid inflammation rich in IgG4-positive plasma cells associated with marked fibrosis. It may be part of the systemic IgG4-related sclerosing disease and is associated with younger age, lower female:male ratio, higher levels of thyroid autoantibodies, low echogenicity on ultrasound (US), rapid progress requiring surgery and more subclinical hypothyroidism, when c...

Introduction: The Neuroendocrine Tumors Study Group of the Portuguese Endocrine Society (SPEDM) performed the first observational study between November 2012 and July 2014 too assess the profile of Gastroenteropancreatic Neuroendocrine Tumours (GEP-NET) patients (pts) followed at the main Portuguese hospitals. Several demographic and clinical data were collectedObjective: Characterize the clinicopathological features and treatment of patients with NET or...

Introduction: Adrenocortical carcinoma (ACC) is a rare entity, usually associated with a poor prognosis. There are still many areas of uncertainty regarding its approach.Methods: A Portuguese ACC register was established in 2020, including information from 24 endocrine centres. Kaplan-Meier was used to calculate overall survival and recurrence; log- rank test to assess survival and progression free survival (PFS) differences between groups; cox-regressio...