Endocrine Abstracts

C-type natriuretic peptide (CNP) has recently been implicated as a key meiotic arrest factor in oocytes, and mechanistic studies suggest that the transcriptional regulation of the CNP gene (Nppc) and of its receptor, GC-B (Npr2) is sensitive to gonadotrophin-dependent cAMP accumulation. We have shown CNP to be a major regulator of gonadotrophs in the pituitary, but have yet to establish how either Nppc or Npr2 are transcriptionally controlled locally. In the current study, the...

Introduction: PTHrP (Parathyroid hormone-related protein) is known to enhance beta cell function and proliferation. PTH levels predict myocardial and coronary heart disease in non-diabetic patients with normal calcium levels and no kidney failure. We aimed at determining in type 2 diabetes patients without kydney failure the relationship between serum levels of 1-84 parathormone (PTH1-84), obesity, HOMA insulin-sensitivity or beta-cells function (HOMA-B), but also between PTH1...

Introduction: We report a case of paraganglioma of glomus caroticum with lung metastases treated with 150 mCi 131I-MIBG.Case: A 25-year-old woman was referred to our department for cachexia. She had low BMI (18) normotension, mild normochromic normocytic anemia with a mass under left mandibula. Radiologic imaging of neck revealed that 24×36×45 mm diameter mass surrounding of carotis externa and interna at the level of bifurcation. She underwent...

Androgens are sex steroid hormones fundamental for human reproduction. In males, they are produced upon luteinizing hormone (LH) action through its specific receptor (LHCGR) expressed in Leydig cells, supporting spermatogenesis. The human chorionic gonadotropin (hCG), acting on the same receptor but not expressed in men, is administered to improve testosterone synthesis in specific pathological contexts, such as hypogonadotropic hypogonadism and cryptorchidism. In vitro</e...

Objective: The distinction between constitutional delay of growth and puberty (CDGP) and congenital hypogonadotropic hypogonadism (CHH) in males with delayed puberty is difficult but important for timely treatment. We aimed to summarize the sensitivity and specificity of serum inhibin B (INHB) level in distinguishing CHH with CDGPin boys.Methods: Studies in the PubMed, EMBASE and Cochrane Library databases were systematically searched from the date of da...

Pituitary adenomas comprise a heterogeneous group of tumours causing serious comorbidities, which would benefit from identification of novel, common molecular/cellular biomarkers and therapeutic targets. The ghrelin system comprises a complex molecular family with multiple functions, and some of its components have been linked to development of various endocrine-related cancers. In this work we aim at better delineating the patho-physiological significance of the ghrelin regul...

Development and progression of liver diseases, from non-alcoholic fatty liver disease (NAFLD) to steatohepatitis (NASH), and hepatocellular carcinoma (HCC), seem to be accompanied by a dysregulation of the expression of alternative splicing variants (SVs) and appearance of aberrant SVs. The splicing factor 3B subunit 1 (SF3B1) represents a crucial player for the functional assembly of the spliceosome, the core machinery that controls the splicing process, and its activity can ...

Germline mutations in BRAF and other components of the RAS/MAPK pathway are found in RASopathies, whose features include short stature and pubertal delay. The underlying mechanism of endocrinopathies in RASopathies has not been fully elucidated. We report four BRAF mutations (two of which are novel) in four children with congenital hypopituitarism and RASopathy features. To demonstrate the functional role of the variants we performed phosphoproteomic analyses...

Introduction: Cushing’s syndrome is a known risk factor for aortic dissection but the association of these conditions is rare. Hypercortisolism is associated with an increased risk of cardiovascular disease and accounts for the high morbidity & mortality in untreated patients.Case Study: A 64y old male presented with acute onset chest pain, radiating to the back. CT angiogram showed Stanford Type B dissection involving the distal aortic arch/des...

Introduction: Polycystic ovary syndrome (PCOS) is a common endocrinopathy associated with increased cardiovascular risk in reproductive aged women. Circulating osteoprotegerin (OPG) and soluble receptor activator of nuclear factor κB ligand (sRANKL) are associated with subclinical atherosclerosis. Our aim is to evalutate serum OPG and sRANKL levels and their relations with cardiovascular and metabolic markers in paients with obese and non-obese PCOS.<p class="abstext"...