Endocrine Abstracts

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 ...

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...

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...

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...

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...

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), ...

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...

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 ...

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...

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...