Endocrine Abstracts

Autosomal dominant hypocalcaemia (ADH) is a disorder that needs to be distinguished from hypoparathyroidism, as ADH patients are at risk of nephrocalcinosis and renal failure when treated with activated vitamin D preparations. ADH types 1 and 2 are due to gain-of-function mutations of the calcium-sensing receptor (CaSR) and G-protein α 11 (Gα11), respectively. CaSR targeted drugs, known as calcilytics, rectify the gain-of-function associated with ADH1-causing mutatio...

Introduction: Adrenal insufficiency is a common problem in our country due to steroid abuse in various forms. In many occasions the patients even do not know about its side effects and consequences of non-prescribed usage. Many of them presents with sudden withdrawal and adrenal crisis. Many of them admits in Gastroenterology unit due to vomiting, some of them in Medical unit with unexplained fever, weakness, anaemia, etc. Many of them having subtle features of Iatrogenic Cush...

The low-dose (1 μg) ACTH stimulation test or glucagon stimulation test (GST) are candidate tests for hypothalamo-pituitary-adrenal (HPA) axis evaluation in patients with pituitary disorders. In this study, we aimed to compare the combination of low-dose ACTH and GSTs (named as combination test) with each test results alone in the evaluation of HPA axis in patients with pituitary disorders whether combination test may overcome the problems when the test results are equivoc...

Hypoparathyroidism is a rare endocrine deficiency due to inadequate amounts of parathyroid hormone (PTH) and is characterised by hypocalcaemia and hyperphosphataemia. Current management regimens with large amounts of oral calcium and active vitamin D do not adequately control mineral homeostasis and can lead to complications in many patients. The phase III REPLACE and RELAY clinical trials established the efficacy and safety of once-daily s.c. injection of r...

In the ovary, the G protein-coupled estrogen receptor (GPER) forms heteromeric complexes with the follicle-stimulating hormone receptor (FSHR), reprogramming FSH-induced signals and determining the follicular fate. Based on the structural similarity, we evaluated whether GPER interacts with the luteinizing hormone (LH)/choriogonadotropin (hCG) receptor (LHCGR) modulating gonadotropin-dependent signals. LHCGR-GPER heteromers were evaluated in transiently transfected HEK293 cell...

Background: The FSHB –211 G > T single nucleotide polymorphism (SNP) is known to affect pituitary FSH output by reducing the transcriptional activity of FSHB. Identifying the response of the pituitary to exogenous GnRH stimulation in subjects with FSHB -211 G > T SNP could provide useful information concerning the mechanisms regulating FSH synthesis and release.Objectives: This study aimed to assess the pituitary...

Background: Testicular germ cell tumours are the most frequent cancer of young men. While pathogenesis and reasons of an increasing incidence all over the world remain unknown, epidemiological and clinical data have suggested that fetal exposure to environmental endocrine disruptors (EEDs), especially with estrogenic effects, could participate to testicular germ cell carcinogenesis. However, EEDs (like bisphenol A) are often weak ligands for classical nuclear estrogen receptor...

In recent decades intensive studies on the glycoprotein-hormone receptors (GPHRs) and their respective hormones have provided a number of molecular insights into the relationship between the structure and function of these proteins. This knowledge includes an understanding of hormone binding, of naturally occurring mutations nad mechanisms of signal transduction and G-protein binding processes.Together with the relaxin family peptide receptors (RxFP) the...

Calcium and Vitamin D deficiency is a common cause of falls and fracture and supplementation with 1 g of calcium and 800 IU of vitamin D is commonly recommended.However, the serum level of 25 OHD that defines deficiency is controversial, and the 25 OHD level required to normalise serum parathyroid hormone (PTH)-in the presence of normal calcium- is often used. In this study we set out to explore how effective is 1 g of calcium and 800 IU of vitamin D in ...

Aims: Genetic variations mediating matrix metalloproteinase-2 (MMP-2) expression may result in individual differences in susceptibility to particular diseases. Our aim was to investigate the possible association of certain MMP-2 gene variants with type 2 diabetes mellitus (T2DM) in a Tunisian population.Subjects and Methods: A case-control study involving 310 normoglycemic control subjects and 791 T2D patients was performed. A total of four MMP-2 SNPs (-...