Endocrine Abstracts

Telomerase is a ribonucleoprotein polymerase that maintains telomere ends and plays a role in cellular senescence, being repressed in postnatal somatic cells. Mutations C228T and C250T of the telomerase reverse transcriptase (TERT) were recently reported in human cancers. In thyroid cancer, TERT mutations are more frequent in aggressive histotypes, but very few data are available about the potential correlations with clinical features in papillary and follicular thyroid cancer...

Introduction: Human chorionic gonadotropin (hCG) is a glycoprotein hormone composed by two subunits, an alpha subunit common to all gonadotropins and a specific beta subunit. hCG is produced by trophoblast cells as differently glycosylated isoforms with a wide range of molecular weight, from 30 to 50 KDa (‘regular’ hCG is 37 KDa). hCG is used in the treatment of infertility. The aim of this study is to analyse and compare the composition of different commercial hCG.<...

Introduction: LH and hCG act on the same receptor (LHCGR), have different half-lives and in vivo biopotency. It is not known whether they elicit the same cellular and molecular response. The aim of this study was to compare the kinetics of cAMP response to recombinant LH and hCG.Design: In COS-7 cells permanently expressing the human LHCGR (COS-7/LHCGR) we evaluated LH and hCG dose-response curves, by measuring total cAMP after 3 h of incubation. ...

Objective: Aromatase, the key enzyme involved in estrogen synthesis, is expressed in a variety of cells, including peripheral blood leukocytes (PBLs), and tissues. The systematic study of aromatase expression and activity in different tissues in the human and other primates, however, is difficult and still missing. Although is not really known, aromatase expression in PBLs could be used as parameter of aromatase expression/activity making PBLs a potential alternative for other...

Objective: Aromatase, the key enzyme involved in estrogen synthesis, is expressed in a variety of cells and tissues including human peripheral blood leukocytes (PBLs). The present study was designed to evaluate PBL aromatase gene expression in male and female elderly subjects compared to young male controls.Design: CYP19A1 mRNA and protein were measured in PBLs obtained from young men (n=13) aged < 35 years, postmenopausal women (n</...

Background: Endothelial dysfunction leads to cardiovascular complications in type 2 diabetes mellitus (T2DM), through a reduction of nitric oxide (NO)-mediated relaxation. Phosphodiesterase-5 inhibitors (PDE5i) have hemodynamic effects, improving NO levels.Aim: To investigate if long term, chronic treatment with the PDE5i Vardenafil improves systemic endothelial function in men with T2DM.Methods: A longitudinal, prospective, invest...

Introduction: The use of multigene panels in thyroid nodule diagnosis is still limited, due to high costs and need for ad hoc sampling. Since BRAF-V600E is the commonest genetic alteration in differentiated thyroid cancer, this is the mostly tested genetic parameter in clinical practice.Aim: To evaluate the use of BRAF mutation analysis in wash-out liquid from fine needle aspiration (FNA) in clinical practice, characterizing th...

Introduction: At present, only eight men with loss-of-function mutations in the CYP19A1 gene have been described. Here we report the genetic study of four adult men with undetectable serum estrogens, unfused epiphyses, eunuchoid skeletal proportions, continuing linear growth, tall stature, genu valgum, osteoporosis, obesity and achantosis nigricans. Patient 1 (26-years/182 cm) and 2 (28-years/187 cm) are from Turkey with a history of consanguinity. Patient 3 (44-years...

Introduction: Follicular thyroid carcinomas (FTC) are the second most common type of thyroid malignancy. Micro-RNAs (miRNAs) are a new class of small, noncoding RNAs whose expression is deregulated in many types of human cancers and may lend novel clues to FTC genesis. Pre-miR146a represents one of the most up-regulated miRNAs in papillary thyroid carcinomas (PTC) and a SNP (rs2910164), identified in pre-miR146a, contributes to genetic predisposition to PTC, but data on FTC ar...

Introduction: The mechanism underlying the development of follicular thyroid carcinoma (FTC), the second commonest thyroid tumor, is still unknown. An interesting hypothesis is that changes in the expression of multiple regulatory RNA (miR) genes may be a major mechanism in thyroid carcinogenesis. For example, several studies suggested that SNP rs2910164 in the pre-miR146a, a precursor of miR146a, might be correlated to papillary carcinoma. The aim of this study was the evalua...