Endocrine Abstracts

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.Case report: Female patient, 19 years old, presented with a clinical history with 2 years of evolution, characterized by episodes of palpitations, headache and abdominal discomfort....

Introduction: One of the most common endocrine complications of anorexia nervosa (AN) is the decrease in bone mineral density. The authors evaluated the predictive factors of osteopenia and osteoporosis in AN patients admitted with low weight.Patients and methods: Retrospective analysis of 45 patients admitted with AN between 2001 and 2015 in the Endocrinology department, corresponding to 63 admissions. Bone mineral density was classified according to WH...

Introduction: Primary adrenal insufficiency or Addison disease (AD) is a potentially fatal condition if not diagnosed in time. Rarely, it can arise as a manifestation of antiphospholipid syndrome (APS), caused by adrenal venous thrombosis and consequent hemorrhagic infarction.Case report: We present the case of a 36-year-old caucasian woman with APS diagnosis since she was 24, with history of arterial hypertension and multiple thrombotic events (deep vei...

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...