Searchable abstracts of presentations at key conferences in endocrinology

ea0070ep458 | Thyroid | ECE2020

Suspicious thyroid nodule in subacute thyroiditis

Fonseca Ricardo , Roque Catarina , Germano Ana , Sousa Raquel , Aldomiro Fernando

Background: Subacute thyroiditis is an inflammatory condition, most likely of viral origin, which typically presents wit low anterior neck pain, fever and transient thyrotoxicosis. Ultrasonography (US) usually shows a diffuse thyroid enlargement with ill-defined hypoechoic areas.Case: A 55-year old women was admitted in the emergency room, with 2 weeks of anterior neck pain, cervical compressive symptoms of dysphagia, fever and palpitations. On physical ...

ea0029p283 | Cardiovascular Endocrinology and Lipid Metabolism | ICEECE2012

Development of primary hyperparathyroidism is closely associated with the onset of dyslipidemia and insulin resistance in a large family harboring a MEN1 gene mutation

Anselmo J. , Moniz C. , Sousa I. , Cesar R.

Introduction: Dyslipidemia is a common finding in patients with primary hyperparathyroidism and together with hypertension and glucose intolerance seems to be responsible by the increased risk of cardiovascular disease in hyperparathyroid patients. In the present work we studied members of a family harboring a MEN1 gene mutation (type 1 multiple endocrine neoplasia syndrome). The penetrance of primary hyperparathyroidism in this condition is close to 100%, starting usually dur...

ea0081ep228 | Calcium and Bone | ECE2022

Pseudohypoparathyroidism type I-b: a rare entity

Silva Eugenia , Ferreira Rute , Marques Bernardo , Santos Francisco Sousa , Manuel Sequeira Duarte Joao

Introduction: Pseudohypoparathyroidism (PHP) is a rare disorder characterized by parathormone (PTH) resistance, caused primarily by genetic defects involving the alpha-subunit of the stimulatory G protein. Biochemical and molecular analysis classify pseudohypoparathyroidism into types I-a, I-b, I-c and 2. We report a case of PHP I-b in an adolescent presenting with a neurological disorder.Case Report: 11 years old female patient, with no relevant persona...

ea0090p746 | Reproductive and Developmental Endocrinology | ECE2023

Falsely elevated estradiol levels in a young female with iatrogenic menopause

Dias Daniela , Matos Tania , Fontes-Sousa Mario , Silvestre Catarina , Serra Filipa , Sapinho Ines

False elevation of estradiol(E2) due to immunoassay interference is a rare but important phenomenon reported in the literature. It is most commonly related to cross-reactivity(CR) from drugs sharing structural similarity with E2, namely fulvestrant and exemestane. These laboratory interferences(LI) can lead to unnecessary investigation/inappropriate treatments. Therefore, in such instances, a more selective and sensitive method is required. We present the case of a young femal...

ea0090p747 | Reproductive and Developmental Endocrinology | ECE2023

Post-Menopausal Hyperandrogenism Secondary to an Ovarian Cause – When Surgery is not An Option

Antunes Carolina , Guia Lopes Leonor , Calvo Paula , Sousa Santos Francisco , Sao Pedro Veronica , Sequeira Duarte Joao

Introduction: Hyperandrogenism is a relatively common medical condition, however severe post-menopausal hyperandrogenism should raise suspicion of a malignant etiology and prompt clinical evaluation. Furthermore, androgen excess has also been associated with severely decreased quality of life. As such, identification of its cause and adequate treatment should not be delayed.Case Report: We report a case of a 66-year-old woman, who had a 5-year history of...

ea0049ep84 | Adrenal cortex (to include Cushing's) | ECE2017

Congenital Adrenal Hyperplasia due to 11β-Hydroxilase Deficiency: clinical and molecular studies of two novel families with variable phenotypes

Pfeilsticker Alessandra , Valadares Luciana , Sousa Selma , Cardoso Sarah , Morais Olivia , Santarem Renata , Lofrano-Porto Adriana

11β-hydroxylase deficiency is the second most frequent cause of congenital adrenal hyperplasia (CAH), corresponding to approximately 5% of cases., and caused by inactivating mutations in the CYP11B1 gene. We aimed to describe four new cases from two different families with a clinical diagnosis of 11β-hydroxylase deficiency. Family 1: Two siblings born from consanguineous parents. A 31-year-old (yo) woman presented at 5 yo with genital ambiguity (Prader II), ...

ea0049ep98 | Adrenal medulla | ECE2017

Pheochromocytoma – surgical outcomes

Martins Pedro Carvalho , Ribeiro Catia , Peyroteo Mariana , Pereira Helena , de Sousa Abreu

Objective: To retrospectively evaluate the results of the pheochromocytoma surgery in our institution assessing the surgical complications, perioperative hemodynamic instability and oncologic outcomes.Methods: The medical records of patients admitted for pathologically confirmed pheochromocytoma between 2000 and 2015 were reviewed. Patients with paragangliomas were excluded.Results: We identified 40 patients with 43 resected pheoch...

ea0049ep133 | Clinical case reports - Pituitary/Adrenal | ECE2017

POEMS: a rare cause of adrenal insufficiency in a young male

Prokop Joanna , Estorninho Joao , Marote Sara , Sabino Teresa , Botelho de Sousa Aida , Silva Eduardo , Agapito Ana

POEMS syndrome characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes is a rare disease that usually presents in the 6th decade. We report a case of a young male in whom the presenting manifestations were mandibular mass, adrenal insufficiency and peripheral polyneuropathy. Clinical case: A thirty-three year old man from Guinea-Bissau was admitted to our hospital with asthenia, weight loss, decreased tactile sensibility with pain ...

ea0049ep403 | Diabetes (to include epidemiology, pathophysiology) | ECE2017

The fatty acid profile in diabetic children

Castro-Correia Cintia , Sousa Sara , Norberto Sonia , Delerue-Matos Cristina , Domingues Valentina , Fontoura Manuel , Calhau Conceicao

Several studies have shown a link between pro-inflammatory activity and the presence or relative deficit of some fatty acids. A low amount of omega 3 fatty acids, appears to promote an inflammatory profile. The omega 6 fatty acids have also the same effect. It is well known that a chronic low-grade inflammation is associated to several diseases, namely, diabetes. The follow-up of children and young people with Type 1 diabetes involves the periodic evaluation of their lipidic p...

ea0049ep596 | Diabetes therapy | ECE2017

A dramatic improvement in metabolic parameters and cutaneous manifestations of insulin-resistance in a type 2 diabetic patient with Congenital Generalized Lipodystrophy (Berardinelli-Seip Syndrome) treated with pioglitazone

Chaves Carolina , Moniz Catarina , Pereira Bernardo Dias , Sousa Isabel , Anselmo Joao , Cesar Rui

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...