Endocrine Abstracts

Introduction: The clinical presentation of ectopic Cushing’s syndrome secondary to pheochromocytoma differs from the classic manifestations of these endocrinopathies separately. This cosecretion causes greater morbidity, requiring a complex preoperative preparation. We describe two clinical cases, a 46-year-old male with grade II overweight and a 65-year-old female with grade I obesity, both with a personal history of hypertension poorly controlled with 7 and 3 antihypert...

Introduction: Hydroxymethylglutaric aciduria is a rare metabolic disease that is caused by the deficiency of the enzyme 3-hydroxy-3-methylglutaryl-CoA lyase, which participates in the metabolism of leucine and in the formation of ketone bodies. The symptomatology usually occurs in the first two years of life and consists of nausea, vomiting, diarrhea, hypotoniaanddepressed level of consciousness. Metabolic acidosis occurs during crises as a result of the accumulation of metabo...

Introduction: Recently, PCSK9 inhibitors have been approved in our country for familial hypercholesterolemia and for patients with cardiovascular diseases. They are still scarce data in real life patients effects.Objective: Analyse the features of first patients treated with PCSK9 inhibitors in a specific unit of familial dyslipidemia and the effect on lipid profile and other clinical variables.Material and methods: Data from patie...

Introduction: Thresholds of basal (bCT) or stimulated serum calcitonin (sCT) levels for the diagnosis of medullary thyroid carcinoma (MTC) aren’t specified in current revised MTC guidelines.Objective: We aim to setfemale (F) specific thresholds for bCT and sCT for MTC diagnosis.Methods: CT samples were measured during calcium-stimulation test (25 mg/kg BW adapted to ideal body mass index) before and at 2, 5 and 10 minutes afte...

We present the clinical case of a family with an initial diagnosis of AIP syndrome with AIP mutation and a secondary diagnosis of MEN syndrome associated because of a large MEN-1 gen deletion. A male patient 16 years old was evaluated because of delayed growth and pubertal development. He had headaches, nausea and vomits since seven years old. MRI showed: Large pituitary mass of 47.6×22×47.2 mm that erode the floor of the sella, extending into the left prepontine cis...

Background: Acromegaly (ACRO) is associated with increased cardiovascular morbidity and mortality, however, there is no evidence of an increase in ischemic heart disease in these patients. We hypothesized that non-classical cardiovascular risk factors such as epicardial fat (EF), interventricular septum thickness (IST), carotid intima-media thickness (CIMT), may be increased in ACRO and contribute to this higher cardiovascular morbidity.Objective: To eva...

Background: The Ectopic ACTH Syndromes (EAS) often associated with severe hypercortisolism are really a challenge.Case presentation: We report the case of a 48-year-old woman, newly diagnosed with hypertension, hypokalemia despite renin-angiotensin blockers intake, and complaints of intense fatigue, muscular weakness, and easy bruising, which worse in four months. EAS was biochemically confirmed, but two urinary catecholamines collection were negatives d...

Precedents: Thirty-nine year old Woman. Classic phenylketonuria diagnosed for neonatal screening in Germany. Good adherence to the diet from the infancy, with good metabolic control. Not response to test with BH4.Pregnancy in 2007 with good controls of phenylalanine (Phe). Son with congenital cardiopathy.Evolution: In 2013 she planed new pregnancy, departing from very good controls (<4 mg/dl) and ingestion of 22–24 Phe&#14...

Introduction: Parenteral nutrition (PN) is indicated in patients in which gastrointestinal tract is inaccessible or is severely affected. In our hospital, specialists often use commercial three-compartment bags of PN that provide standard nutritional requirements regardless a total parenteral nutrition (TPN) with macro and micronutrients adjusted to each patient by Endocrinology and Nutrition Service.Objectives: To assess the use of commercial premixed P...

Introduction: The relationship between the BRAF gene mutation in papillary thyroid cancer (PTC) and the presence of lymph node metastasis (LNM) is a subject of controversy.Objective: To analyse the influence of BRAF mutation status in the characteristics of lymph nodes in patients with PTC submitted to lymph node dissection (LND).Material and methods: Lymph nodes obtained from 20 patients (12 females, mean age 50±15 y...