Endocrine Abstracts

Introduction: Neuroglucopenic hypoglycaemia might be an underestimated threat of bariatric surgery, as Roux-en-Y gastric bypass (RYBG) or gastric sleeve. We aimed to evaluate glucose variability after bariatric surgery by continuous glucose monitoring (CGM) in a real-life setting.Methods: CGM was used in twelve patients with clinical suspicion of hypoglycaemia after undergoing bariatric surgery (RYBG or sleeve), during seven days. CGM was through using i...

Introduction: Craniopharyngiomas are rare epithelial tumors of the sellar and parasellar region, with high survival rates but with frequent tumor recurrence or persistence.Methods: Information collection from clinical records and review of the epidemiology, diagnosis, treatment and follow-up of patients with diagnosis of craniopharyngioma followed in an Endocrinology Department between 1980 and 2015. Statistical analysis using SPSS v. 22.0.<p class="...

Introduction: Pheochromocytoma is a rare catecholamine-secreting tumor that arises from the chromaffin tissue of the adrenal medulla. Of the reported cases, only 10% consist in bilateral lesions and the probability of multiple endocrine neoplasia should always be investigated.Clinical case: Female patient, 19 years old, presented with a clinical history with 2 years of evolution, characterized by episodes of palpitations, headache, nausea and abdominal d...

Background: Gestational diabetes (GDM) can be driven by mutations or rare variants in various genes associated with monogenic or atypical forms of diabetes. The reported frequency of monogenic defects of beta cell function in GDM varies extensively, in part due to differences in ethnicity, patient ascertainment criteria and techniques used for genetic analysis. The objective was to evaluate the frequency and molecular spectrum of mutations in a curated list of genes associated...

Generation of H2O2 at the apical membrane of thyroid cells is essential for iodination of thyroglobulin. Dual oxidase 2 (DUOX2) is the catalytic core of the thyroidal H2O2 generator, and its deficiency leads to congenital hypothyroidism (CH) in humans and mice. The Dual oxidase maturation factor 2 (DUOXA2) is a recently identified endoplasmic reticulum (ER)-resident protein required for expression of DUOX2 activity.<p class="abst...

Beta-HLH transcription factors are involved in the ontogenesis of neural/neuroendocrine cells, and may play a role in the pathogenesis of neuroendocrine tumours. Neurogenin 2 (Ngn2) is expressed by the developing mouse pituitary. After preliminary data indicating its expression in the normal human pituitary, we have studied its phenotypic expression in normal and adenomatous pituitary tissues.Methods: Fifty-two pituitary adenomas (PA) – 23 clinicall...

The beta-HLH transcription factors NeuroD1 and ASH1 are frequently expressed by pituitary adenomas, both being present in all corticotroph, most clinically non-secreting (CNS) and a subset of GH and/or PRL-secreting adenomas. We wished to investigate the expression of the related beta-HLH factors neurogenins (Ngn) 1, 2 and 3 in the pituitary (n=4) and in a series of pituitary adenomas (n=45). RT-PCR was performed at different amplification cycles (up to 45) in al...

Introduction: Turner Syndrome (TS) is associated with cardiovascular anomalies and account for a threefold higher mortality in these women. The most common findings are congenital malformations of the heart (CMH), aortic dissection, valvular heart disease (VHD), hypertension and ischemic heart disease. It has been suggested that the ocurrence of cardiovascular disease in TS women is related to their karyotype and possibly to growth hormone (GH) treatment. Our study aimed to as...

Introduction: Adult-onset autoimmune diabetes (AID) has two different phenotypes: classic type 1 diabetes mellitus (T1DM), with insulin requirement just after diagnosis, and latent autoimmune diabetes in adults (LADA). According to the Immunology of Diabetes Society, LADA diagnostic criteria are: age of onset of 30 years or more, any islet autoantibody, absence of insulin requirement for at least 6 months. The purpose of this study is to characterize patients with AID followed...

Introduction: Primary aldosteronism (PA) is the principal cause of arterial hypertension potentially treatable. The diagnosis is dependent of tests to identify patients who will benefit most with surgical treatment. ACTH stimulation test (AST) has been described as a useful confirmatory test, potentially identifying bilateral disease in patients without adrenal tumors.Aim: Evaluate the AST in patients with hypertension and positive screening test for PA,...