Endocrine Abstracts

Hyponatremia may manifest with nausea, disorientation, seizures, coma, cerebral edema and even death. The etiology of hyponatremia as paraneoplastic syndrome has been attributed most often to high levels of vasopressin. Correction of hyponatremia is usually successful at moderately low sodium levels, although it must be done slowly to prevent osmotic demyelination. Gastrointestinal stromal tumors (GISTs) rarely present paraneoplastic reactions, a few cases have been reported.<...

Introduction: Insulinomatosis is a rare disorder characterised by persistent hyperinsulinaemic hypoglycaemia (PHH) due to the occurrence of multifocal pancreatic insulinomas. This condition, whose pathogenesis is unknown, can occur in a familial setting. Paradoxically, while some family members develop PHH, others develop diabetes mellitus.Methods: We have identified a family with autosomal dominant familial insulinomatosis and diabetes. Exome sequencing...

Introduction: Non-syndromic pituitary gigantism can result from AIP mutations and the recently identified Xq26.3 microduplications causing X-LAG.Patients and methods: DNA samples and clinical data were collected from 151 patients with pituitary gigantism. All samples were tested for AIP mutations; AIP mutation negative cases (AIPneg) were screened for Xq26.3 microduplications.Results: Xq26.3 micr...

Morphological and therapeutic interventions have uncovered an inflammatory process in patients with type 2 diabetes. This inflammation is due to a pathological activation of the innate immune system by metabolic stress and is largely governed by IL-1 signaling. Initially, the inflammatory response is probably deployed to promote adaptation and regeneration. Indeed, we identified a role for IL-1β and insulin in the regulation of both metabolism and immunity in response to ...

Introduction: Adrenocortical carcinoma (ACC) is a rare entity, usually associated with a poor prognosis. There are still many areas of uncertainty regarding its approach.Methods: A Portuguese ACC register was established in 2020, including information from 24 endocrine centres. Kaplan-Meier was used to calculate overall survival and recurrence; log- rank test to assess survival and progression free survival (PFS) differences between groups; cox-regressio...

We previously described aberrant expression of microRNAs belonging to the chromosome 19 cluster (C19MC) and the close miR-371-373 cluster in two-thirds of parathyroid carcinomas (PCas). Therefore, we investigated the involvement of the miR-371-373 cluster in parathyroid tumours, where miR-372 was the most consistently upregulated. miR-372 is known to be highly expressed in human embryonic stem cells and definitely downregulated upon differentiation. Moreover, miR-372 promotes ...

Patients with primary hyperparathyroidism (PHPT) are at risk of chronic kidney disease (CKD). PHPT patients (n=190, 146 females and 44 males, aged 59.7±14.2 years) and non-hypertensive, non-diabetic age- and sex-matched healthy controls were evaluated for serum cystatin C and creatinine. PHPT patients and controls with established CKD were excluded. Serum cystatin C was measured by immunonephelometric assay and calculation of estimated glomerular filtration rate ...

Though there is no evidence of a constitutive nuclear accumulation of β-catenin, the Wnt/β-catenin pathway might be deregulated in parathyroid tumours. We investigated unphosphorylated active β-catenin distribution by western blot in 16 typical parathyroid adenomas (PAds): β-catenin accumulation in the nuclear protein fractions varied from the levels detected in Caco-2 cells with constitutively active Wnt signalling (three PAds) to the levels measured in HE...

Objective: To evaluate cancer risk among people with type 2 diabetes mellitus (T2DM) in Lithuania.Methods: A retrospective cohort design was used. The cohort was established by identifying all patients with the first diagnosis of T2DM in the National Health Insurance Fund database during 2000–2012. Cancer cases were identified by record linkage with the Lithuanian Cancer Registry. Standardized incidence ratios (SIRs) were calculated.<p class="ab...

GH has contra-insulin actions and exogenous GH can reversibly reduce insulin sensitivity in patients treated with GH. It has been recently reported that the exon 3 – deleted (d3) isoform of the GH receptor (GHR) appears to be preventive for type 2 diabetes mellitus in adult subjects (GH&IGF Res 2007;17:392). Aim of this study was to investigate possible influences of the GHR-d3 polymorohism on glucose metabolism, lipid profile and BMI in children treated with GH for G...