Endocrine Abstracts

Introduction: Autosomal dominant hypocalcaemia (ADH) is caused by activating mutations of the calcium sensing receptor (CaSR). Symptomatology ranges from asymptomatic hypocalcaemia to paraesthesia, tetani, laringospasm and, seizures. This is the first report of congenital hyperinsulinism (CHI) in a child with ADH.Case report: A female infant, born at term from non-consanguineous parents, presented on D2 with persistent asymptomatic hypoglycaemia requirin...

The function of stem cells in the anterior pituitary gland, their role in homeostasis during life and possible involvement in pituitary tumours remain largely unknown. We have previously shown that cells exclusively within the Sox2+ compartment of the mouse pituitary have progenitor/stem cell properties in culture where they can self-renew and terminally differentiate. To address if these cells act as stem cells in vivo, we generated an inducible Sox2-C...

Anosmin-1, a protein defective in X-linked Kallmann's syndrome (X-KS), presents a structure comprising a cysteine rich N terminus (CR), a whey acid protein (WAP) domain followed by four fibronectin-like III domains (FnIII); and its function is heparan sulphate (HS) dependent. However, anosmin-1 and HS binding affinity is unknown. Although the WAP domain belongs to a protein family demonstrating serine protease inhibitory activity, the interacting serine protease remains to be ...

Type 2 diabetes (T2D) patients have a high cardiovascular risk due to vascular inflammation and dyslipidaemia. Furthermore vitamin D (VD) deficiency is highly prevalent. Our aim was to elucidate the role of fatty acid receptors in inflammatory pathways and their regulation by VD. We therefore examined the VD effect on gene expression of Arachidonate 5-lipoxygenase (ALOX-5) and Sphingosine-1-phospate receptors (S1PR1 and S1PR2) in primary isolated monocytes of T2D patients and ...

Ghrelin is a peptide hormone secreted by the stomach with orexigenic properties that induce food intake trough the activation of hypothalamic AMP activated kinase (AMPK). In rodents fed on normal diet the central administration of ghrelin induces an increase in food intake, however, when fed a high fat diet (HFD) rodents are resistant to the orexigenic effect of ghrelin. Recent data show that Cidea interacts with AMPK β-subunit and promotes AMPK degradation trough ubiquit...

Introduction: The use of radioiodine is a common treatment for differentiated thyroid cancer. However, special care should be exercised in treating patients who are on hemodialysis, due to the renal elimination of the radionuclide, which implies several technical difficulties and safety concerns. We have previously described the procedure and the short-term outcome and safety in three patients (Jimenez et al, Thyroid 2001; 11(11):1031–1034). Our results showed that the ra...

Introduction: oxLDL are produced from the oxidation of low density lipoprotein (LDL) by macrophages and endothelial cells, becoming cytotoxic and immunogenic. They are also a potent inhibitor of the macrophages mobility, contributing to the vascular wall progressive inflammatory infiltration and atherosclerosis formation. Weight loss can prevent atherosclerotic plaque progression of and acute coronary events in obese subjects, so that oxLDL could be used a biomarker of cardiov...

Background: The adrenal gland produces corticosteroids essential for hydromineral and metabolic homeostasis. It is organised, in mice, in two concentric layers. The zona glomerulosa (zG) and fasciculate (zF), renewed from progenitors located in the capsular periphery. Centripetal renewal and maintenance of cortical zonation are dependant of a balance between WNT/β-catenin and ACTH/PKA signalling pathways. They provide recruitment and consecutive differentiation of progeni...

Maturation of the definitive adrenal cortex occurs between 3 and 6 weeks post-partum and involves onset of CYP11B2 expression and establishment of the laminin-encased 3D structure of glomeruli that contain rosettes of 10 to 15 zona glomerulosa (zG) cells that work in coordination to produce optimal amounts of aldosterone. Although this process is dependent on canonical WNT/b-catenin signaling, cellular sources of WNT ligands remain elusive and the mechanisms involved in the ex...

Context: Vitamin D is a fat-soluble vitamin which requires the hydroxylation into 1,25-dihydroxyvitamin D (1,25-(OH)2D3) to be fully active. Vitamin D deficiency is a worldwide health problem associated to a wide range of acute and chronic diseases. On other hand, vitamin D supplementation has been proposed to reduced the risk of metabolic dysfunctions including obesity, type 2 diabetes and cardiovascular disease. Vitamin D interacts with the epigenetic m...