Endocrine Abstracts

Hypopituitarism is associated with profound androgen deficiency, even in patients who are adrenocorticotrophic hormone (ACTH) replete. DHEA has been shown to have a beneficial effect on well-being in patients with adrenal failure. We hypothesised that DHEA may be additive to the known effects of GH on psychological well-being in patients with hypopituitarism. In a double blind placebo controlled trial 50 mg DHEA or placebo was added to standard replacement, including growth ho...

Familial Glucocorticoid Deficiency (FGD) [OMIM #202200] is an autosomal recessive disorder resulting from resistance to the action of adrenocorticotropin (ACTH) on the adrenal cortex to stimulate glucocorticoid production. It has previously been linked to mutations in the ACTH receptor (ACTHR) [FGD type 1] and a locus on chromosome 8q, but 70% of cases have no known cause. The aim of this study was to identify additional loci and genes for FGD using a linkage mapping strategy....

Neonatal Cushing syndrome (CS) is a rather rare disease. The majority of these few cases are of ACTH dependent origin or caused by a unilateral adrenal tumour (carcinoma or adenoma), however ACTH independent bilateral hyperplasias stand for only a few percent of all cases. The management of neonatal CS depends on the underlying cause – if found in time - of the disease. In the past the survival rate of children with CS was low, new and renewed medical attempts have improv...

IntroductionBilateral adrenal incidentalomas represent about 15% of adrenal incidentalomas. Their investigation and management are less discussed and more challenging than unilateral incidentalome. A special attention is required because they are more likely to be pathologic. When associated with a synchronous extra-adrenal tumor, the first diagnosis is adrenal metastasis, but this is not always true. Here we present a rare association of pheochromocytom...

IntroductionSimultaneous pancreas-kidney transplantation (PKT) has a beneficial effect on the evolution of chronic complications in type 1 diabetic (T1D) patients with terminal chronic kidney disease (CKD). However, the CKD-mineral and bone disorder (CKD-MBD) remains a frequent complication. There are a few studies addressing the long-term evolution of bone mineral density (BMD) in these patients.AimTo charac...

IntroductionSevere acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is a novel coronavirus that caused a global pandemic in 2020. The virus has infected more than 100 million people worldwide and the pandemic is still spreading. It can affect practically all organs. Data on the impact of SARSCoV-2 on the thyroid gland are very scarce. Two patients with Graves’ disease (GD) and COVID-19 have been recently published(1). We present a case GD occur...

Metabolic-associated fatty liver disease (MAFLD) is a growing cause of hepatocellular carcinoma (HCC), but the molecular mechanisms associated with the pathological progression from MAFLD to HCC are still to be fully elucidated. The genomic and transcriptomic profile of HCC samples have been widely described; however, the proteomic landscape of MAFLD-derived HCC samples is mostly unknown. Here, we sought to perform the first quantitative proteomic analysis of HCC samples from ...

Coronavirus disease caused by SARS-CoV-2 virus (Covid-19) is associated with a variable clinical syndrome, ranging from a mild-moderate to a severe disease, progressing towards acute respiratory distress syndrome. Hypocortisolism is associated with a depletion of innate immunity and disruption of immune response, which could contribute to an increased risk of infection and development of a severe disease. Glucocorticoid (GC) replacement therapy(GCRT), especially if administere...

Tumor-induced osteomalacia (TIO) or ‘oncogenic osteomalacia’ is a rare paraneoplastic disorder, usually resulting from Fibroblast Growth Factor 23 (FGF23) oversecretion by a benign small ‘phosphaturic mesenchymal tumor’, causing hypophosphatemia and reduced 1,25-dihydroxyvitamin D synthesis. Calcium and parathyroid hormone (PTH) levels are usually normal, but secondary/tertiary hyperparathyroidism has been reported in up to 5% of the cases, mainly due to 1,...

Introduction: Simultaneous pancreas-kidney transplantation (SPKT) is the treatment of choice for type 1 diabetic patients with advanced kidney chronic disease (CKD), restoring normoglycemia, insulin independence and improving survival. The present study aims to analyse survival of patients undergoing SPKT and the post-SPKT metabolic profile of patients with a functioning pancreatic graft.Methods: Retrospective observational study. T1DM patients with CKD ...