Endocrine Abstracts

Aim: To evaluate the effect of PPARG2 Pro12Ala, TNFα G(308)A and G(238)A, LIPC C(-514)T, ACE I/D, SLCO1B1 Val174Ala polymorphism on the response to statins therapy in patients with type 2 diabetes mellitus (T2DM).Methods: We consecutively recruited patients with type 2 DM requiring lipid-lowering therapy according to current guidelines. Patients were started on either atorvastatin 10 or 20 mg. After 12 month of st...

Introduction: Recent data indicate that women affected by the polycystic ovary syndrome (PCOS) are at a greater risk for cardiovascular disease (CVD). The objective of this study was to evaluate the effect of the association ethinylestradiol 30 μg–drospirenone 3 mg (DRP/EE30 μg) plus metformin and weight loss on surrogate markers of CVD in PCOS.Methods: Twenty-five young women with PCOS (mean age 22.76±0.83 years, body mass index (BMI...

In this study we employed a novel bioluminescence resonance energy transfer (BRET) biosensor to study the coupling specificity of somatostatin receptor 5 (SST5) and its naturally occurring mutant R240W in living cells. Our previous data demonstrated that SST5 carrying the R240W mutation as well as other mutations in the third intracellular loop maintained the ability to inhibit intracellular cAMP levels similarly to the wild-type but failed to mediate the inhibition of intrace...

The calcium-sensing receptor (CaSR) is a G-protein coupled receptor (GPCR) that maintains systemic calcium homeostasis by detecting alterations in extracellular calcium, which it transduces into signalling changes, mainly via the Gq/11 pathway, leading to a decrease in PTH secretion. The importance of CaSR is highlighted by studies of patients that harbour germline CaSR mutations, which lead to a gain of receptor function in autosomal dominant...

The calcium-sensing receptor (CaSR) is a G-protein coupled receptor (GPCR) that maintains systemic calcium homeostasis by detecting alterations in extracellular calcium, which it transduces into signalling changes, mainly via the Gq/11 pathway, leading to a decrease in PTH secretion. The importance of CaSR is highlighted by studies of patients that harbour germline CaSR mutations, which lead to a gain of receptor function in autosomal dominant...

There are potential benefits and risks to receive Granulocyte-Colony Stimulating Factor (G-CSF) as a general treatment in hospital. To assess the clinical effect of G-CSF or non-G-CSF on recovery duration for agranulocytosis patients with hyperthyroidism, we analyzed the overall clinical outcomes by meta-analysis. We included published seven retrospective studies and 1 prospective study. Individual data were obtained from eight trials (376 patients: 215 with G-CSF, 161 with no...

The aim of our study is to identify signalling sensitive residue positions of the glycoprotein hormone receptors (GPHR), especially the thyrotropin receptor (TSHR) on the transmembrane helices (TMH) 5 and 6, knowing to be involved in GPCR activation. We performed modelling driven site-directed mutagenesis to pinpoint residues that are responsible for stabilization of active and inactive conformations of the TSHR.We highlight two amino acids that are high...

Introduction: Extra adrenal paraganglioma (PGL) account for approximately 15% of all pheochromocytoma. Urinary bladder & mediastinum are rarest form of PGL. We present a case of bladder &Mediastinal PGL with a novel mutation in exon 1 of SDHB gene.Case Report: 18 years old male patient was admitted with five years episodic symptoms of headache, sweating, and palpitations, especially after urination. He also complained of postural dizziness for la...

Objectives: Evaluation of the HPA axis is still a big challenge. This study was performed to compare 1 μg ACTH, 250 μg ACTH and glucagon tests for evaluation of HPA axis in healthy male and female subjects with different ages.Materials and methods: This study was carried out on 57 healthy individuals (29 men, 28 women) between 20 and 70 years of age (the number and gender of the subjects are approximately equal for each decade). Low dose short ...

Heterotrimeric G-proteins are important molecular switches that transduce extracellular ligand-binding at G-protein-coupled receptors (GPCRs) to intracellular signals. G-protein alpha-subunits (Gα) have two domains, a helical and GTPase domain, which provide structural stability and mediate GTPase activity, respectively. Gain-of-function Gα mutations cause endocrine conditions including McCune-Albright Syndrome, due to Gαs mutations, and a...