Endocrine Abstracts

The FSHR is characterised by a large number of SNPs (1636 listed in the NCBI SNP database), mostly located in intronic regions and of unknown heterozygosity rate. Some SNPs, especially those which are nonsynonymous and located in exons have been studied in association with gonadal function.The SNPs at nt position 919 and 2039 in exon 10 are very common (heterozygosity: 0.469) and result in the aminoacid transition Thr/Ala at codon 307 and Asn/Ser ...

Background: The immortalised human granulosa cell line (hGL5) is not responding to gonadotropins, which fail to activate the cAMP/PKA/CREB pathway, progesterone production, cell rounding and apoptosis, suggesting that FSH- and LH/hCG-receptors (FSHR; LHCGR) are downregulated.Aim: To investigate whether the mechanism of FSHR/LHCGR downregulation is associated with life/death signals in hGL5 cells.Methods: We evaluated the FSHR/LHCGR...

Introduction: PCOS is a common endocrine disorder in women exhibiting characteristics ranging from hyperandrogenic to metabolic phenotypes, more prevalent in people of African/Caucasian and Asian ancestry, respectively. Since PCOS impairs fertility without diminishing in prevalence, it was discussed as an evolutionary paradox. GWAS identified 17 SNPs with different allele frequencies, depending on ethnicity, in various susceptibility loci (FSHR, LHCGR, DENND1A, THADA, C9OR...

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.<...

Background: Conventional parameters evaluated in semen analysis show several limits in the diagnostic setting of male infertility and do not provide any useful prognostic tool for assisted reproductive technique (ART). On the contrary, the assessment of sperm DNA fragmentation (sDF) was proposed to discriminate fertile from infertile men and to predict the follicle stimulating hormone (FSH) treatment response in infertile men. However, a comprehensive evaluation thereof is not...

Background: The recognition of the erectile dysfunction (ED) pathogenesis is essential to identify the appropriate ED management. Since vascular ED (vED) could be a manifestation of a systemic arterial damage, the watershed in the ED diagnostic framework is the discrimination between psychological (pED) and vED. However, reliable tools to directly diagnose pED are currently lacking.Aim of the study: To identify which parameters could predict pED. Moreove...

Background: Testicular overstimulation is the pursued therapeutic goal when exogenous follicle-stimulating hormone (FSH) is empirically administered to men with idiopathic infertility. Although a robust physiological rationale theoretically supports the FSH use in male idiopathic infertility, useful markers to evaluate its efficacy are still far from being detected. While pregnancy rate remains the strong outcome in couple infertility management, the identification of reliable...

Introduction: The detection of a unique genetic marker is not possible for multifactorial diseases, such as thyroid cancer (TC), where the pathological phenotype is given by the contribution of multiple genes, environmental factors and lifestyle. We found a mathematical model for inferring the risk of thyroid cancer, an example of multifactorial disease.Methods: Genetic data represented by 184 SNPs associated to thyroid tumors were used for Bayesian clus...

Background: Luteinizing hormone (LH) and human chorionic gonadotropin (hCG) act on the same receptor, activating different signal transduction pathways. The role of LH or hCG addition to follicle stimulating hormone (FSH) as well as menopausal gonadotropins (hMG) in controlled ovarian stimulation (COS) is debated.Aim: To compare FSH+LH, or FSH+hCG or hMG vs FSH alone on COS outcomes.Design: A meta-analysis according to PRISMA state...

Introduction: Sphingosine-1-phosphate (S1P) is a sphingolipid mediating proliferative signals in human ovarian follicles, acting through five receptors (S1PR1-5). We characterized the effects of S1PR1 and S1PR3 in vitro, as those mostly expressed in human primary granulosa cells (hGLC) and immortalized, tumor-like granulosa cell line (hGL5).Methods: The S1P-mediated signaling, as well as the activity of S1PR1- and S1PR3-specific agonists (SEW281...