Endocrine Abstracts

Purpose: Osteopathy/osteoporosis in Gaucher disease type 1 (GD1) shows variable responses to enzyme replacement therapy (ERT); the pathogenesis is incompletely understood. We aimed to investigate the effect of several gene variants on bone mineral density (BMD) and serum markers of bone metabolism in GD1.Patients/methods: 50 adult Caucasian patients with GD1/117 controls were genotyped for gene variants in the osteoprotegerin (TNFRSF11B; OPG), estrogen r...

Congenital adrenal hyperplasia (CAH) describes a group of autosomal recessive disorders where the cortisol biosynthesis is impaired. There are two forms of CAH: the classic form, which includes the salt-wasting and the simple virilizing forms, and the nonclassic form. CAH due to 21-hydroxylase deficiency accounts for 95% of cases. Treatment of the classic form of CAH is targeted at replacing cortisol and aldosterone and effectively controlling excess androgen symptoms by using...

Cushing’s syndrome is a collection of signs and symptoms due to prolonged exposure to cortisol. It can be difficult to diagnose, particularly endogenous Cushing’s syndrome, because other conditions share the same signs and symptoms. Diagnosing Cushing’s syndrome can be a long and extensive process, it’s treatment may be also an important challenge. We present the case of a 49-year-old man, with a history of asthma and pulmonary cribriform adenocarcinoma (ra...

Uncoupling protein 2 (UCP2) is a mitochondrial protein located in the mitochondrial inner membrane, and it uncouples substrate oxidation from ATP synthesis, thereby dissipating the membrane potential energy and consequently decreasing reactive oxygen species (ROS) formation by mitochondrial respiratory chain. ROS overproduction is related to diabetic retinopathy (DR), a chronic complication of diabetes mellitus (DM). Recently, our group reported that the -866A/55Val/Ins haplot...

Products of carbohydrates, proteins and lipids hydrolysis are absorbed by specific carriers located at the enterocytes apical membrane, but little is known about the mechanisms related to their regulation by own nutrients, especially considering the high consumption of fats. Carbohydrates are transported by SGLT1, GLUT5 and GLUT2 and peptides are transported by PEPT1. Cholesterol is transported by NPC1L1 and long chain fatty acids occur through FAT-CD36 and FATP4. Thyroid horm...

Insulinoma, a rare neuroendocrine tumor (NET), is benign in more than 90% of cases. We present a review of patients diagnosed with insulinoma at our Department.Methods: Retrospective review of clinical records of patients diagnosed with insulinoma between 2011 and 2016.Results: Six female patients were diagnosed with insulinoma (age at presentation 30–66, follow-up: 0.25–3.25 years). Episodes of sweating, palpitations, tr...

Introduction: Primary acinic cell carcinoma (ACC) is an uncommon salivary gland (SG) tumor, making up 1–3% of all SG neoplasms, more frequent in women, at 40–60 year old. The cause is still unknown and the only well-established risk factor is ionizing radiation. ACC metastasize in 10–15% of the cases, 35% tends to recur and the rate of disease-associated death is about 16%. Surgical resection is the mainstay treatment, but radiation therapy may be used in some c...

Introduction: Pheochromocytomas and extra-adrenal paragangliomas are rare neuroendocrine tumors, with a peak incidence between the 3rd–5th decades of life and about 10% are malignant. Although they have the same radiographic and histologic characteristics of their benign counterpart, malignant pheochromocytomas are diagnosed by the presence of local invasion or metastatic tumor in the non-chromaffin tissues, and offer a poorer prognosis. Treatment is typically extirpative...

Introduction and objectives: Hyperglycemia is a common problem in hospitalized patients, that increases infections, mortality, costs and the hospital stay. The objective of this study is to know the prevalence of hyperglycemia in our hospital.Methods: We designed a cross-sectional observational study. We included patients admitted in the hospital every 3 days in 2 months. We excluded patients younger than 15 years, stays less than 3 days and those of the...

Insulin autoimmune syndrome (IAS) is a very rare cause of hypoglycaemia in western countries. One proposed mechanism is anti-insulin antibody capture of prandial insulin followed by the dissociation of insulin from anti-insulin antibody. The first objective was to study the relationship between glucose, insulin and C-peptide during a prolonged glucose load in two patients with active IAS. The second was to study the variation of these parameters between the active and the reco...