Endocrine Abstracts

Introduction: RET germline mutation in codon 634 of exon 11 is one of the most frequent mutations of classical multiple endocrine neoplasia type 2A (MEN2A). Virtually all patients with classical MEN2A develop medullary thyroid carcinoma (MTC), which is often the first manifestation of the disease and usually occurs early in life. Pheochromocytomas (PHEOs) tend to be diagnosed several years later or simultaneously with the MTC.Case report: The pa...

Introduction: Primary hyperparathyroidism is the most common cause of hypercalcemia in the outpatient setting, and a single parathyroid adenoma is usually the culprit. Clinical presentation is commonly dictated by hypercalcemia. Symptoms can range from mild non-specific malaise and gastrointestinal disturbances, through bone disease, kidney stones, cardiovascular and neuromuscular dysfunction to, ultimately, coma and death. However, the vast majority of patien...

Introduction: Parathyroid hyperplasia is the second cause of primary hyperparathyroidism (PH), representing 15–20% of all cases. The scintigraphy with Tc-99m-Sestamibi is a preoperative exam used to identify parathyroid adenomas or hyperplasia. It has a sensibility of 50–90%, which increases with larger parathyroid size. The neck ultrasonography (US) has also an important role detecting parathyroid enlarged glands with 70% sensibility. We report a case of parathyroid...

Type 1 diabetes mellitus (DM1) accounts for 5 to 10% of DM cases, and can occur both in childhood and adults. Studies show an association between severe hypoglycemia and increased vulnerability to cardiac arrhythmias due to conduction disorders, interval ST-segment changes, and even sudden death. The aim of this study is to evaluate the occurrence of cardiac arrhythmias during episodes of hypoglycemia. A prospective study with DM1 patients under insulin therapy for at least 5 ...

Background and Aim: Unacylated ghrelin (UAG) is the major form of circulating ghrelin. Initially considered as a non-functional peptide, soon after UAG has been associated to a negative action on energy balance, suppression of hepatic glucose production and decrease in circulating levels of insulin. The aim of this study was to analyze the association between the serum levels of UAG and glucose metabolism parameters in obese women, independently from the eventual interference ...

Objective: Analyse the features of first patients treated with PCSK9 inhibitors in a specific Familial dyslipidemia Unit and the effects on lipid profile in first months of treatment.Material and methods: Data from patients with heterozygous familial hypercholesterolemia treated with PCSK9 inhibitors were reviewed. Clinical data, physical examination and analytical data were collected at baseline, one month and 3 months.Results: Da...

Introduction: A high percentage of patients diagnosed with Amyotrophic Lateral Sclerosis (ALS) have malnutrition. The nutritional treatment in ALS is essential, affecting muscle strength, quality of life and survival.Objective: To describe the nutritional characteristics of patients evaluated in a specific nutritional Unit in patients with ALS during 3 years.Material and methods: A descriptive study of all patients diagnosed with A...

Introduction: Combined central diabetes insipidus (DI) and cerebral salt wasting syndrome (CSW) is a rare clinical finding. However, when this happens, mortality is high due to delayed diagnosis and/or inadequate treatment.Case report: 42-year-old man referred to neurosurgery due to a non functional pituitary macroadenoma with bitemporal hemianopsia. He underwent partial ressection of the tumour on July 2nd 2015. On the following day of surgery he presen...

Background: The efficacy of recombinant human growth hormone replacement therapy (GHRT) has been demonstrated, in part, through clinical trials conducted worldwide. KIMS (Pfizer International Metabolic Database), established in 1994 and active until 2012, includes treatment outcome data and real world safety from 15 809 patients from 31 countries.Objective: The main objective of this analysis was to evaluate the long-term safety of patients with hypopitu...

Objetive: To assess the clinical features of incidental clinically non-functioning pituitary adenoma (NFPA) and to analyze its natural history.Methods: A multicenter retrospective study in patients with NFPA followed-up from 1992 to 2015 was performed.Results: Fifty-seven patients were studied (29 women (50.9%); age 55.8±16.7 years. 43.9% were older than 60 years, 40.3% belonged to the age group of 40–60 years and 15.8% w...