Searchable abstracts of presentations at key conferences in endocrinology

ea0020s27.2 | Impact of SNPs on Hormone Function | ECE2009

Impact of SNP on hormone function: FSH receptor

Simoni Manuela

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 ...

ea0037gp.09.02 | Nuclear receptors and signalling | ECE2015

Proliferative vs apoptotic signals in granulosa cells: β-arrestins as switch between life and death in vitro

Casarini Livio , Simoni Manuela

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...

ea0035p644 | Female reproduction | ECE2014

The PCOS evolutionary paradox: a GWAS-based, in silico, evolutionary explanation

Casarini Livio , Simoni Manuela

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...

ea0037ep168 | Reproduction, endocrine disruptors and signalling | ECE2015

Heterogeneity of human chorionic gonadotropin (hCG) in commercial preparations of hCG and human menopausal gonadotropin

Riccetti Laura , Pignatti Elisa , Simoni Manuela

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.<...

ea0056gp214 | Reproduction | ECE2018

Sperm DNA fragmentation index as a promising predictive tool for male infertility diagnosis and treatment management

Santi Daniele , Spaggiari Giorgia , Simoni Manuela

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...

ea0081ep865 | Reproductive and Developmental Endocrinology | ECE2022

A new, accurate and time-saving, two-step intracavernosal injection procedure to diagnose psychological erectile dysfunction

Spaggiari Giorgia , Granata Antonio Raffaele Michele , Simoni Manuela , Santi Daniele

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...

ea0081ep868 | Reproductive and Developmental Endocrinology | ECE2022

The FSH administration to men with idiopathic infertility improves sperm DNA fragmentation index together with testosterone serum levels increase

Santi Daniele , Spaggiari Giorgia , Lispi Monica , Panagiotis Drakopoulos , Simoni Manuela

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...

ea0049gp245 | Thyroid Cancer &amp; Thyroid Case Reports | ECE2017

A statistical, in silico model predicts polygenic thyroid cancer risk

Casarini Livio , Marino Marco , Nuzzo Federico , Simoni Manuela , Brigante Giulia

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...

ea0049ep1107 | Female Reproduction | ECE2017

Efficacy of FSH alone, FSH + LH, hMG or FSH + hCG on ART outcomes in the ‘personalized’ medicine era: a meta-analysis

Santi Daniele , Casarini Livio , Alviggi Carlo , Simoni Manuela

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...

ea0049ep1112 | Female Reproduction | ECE2017

Biological activity mediated by sfingosine-1-phospate receptors in human primary granulosa cells and immortalized granulosa cell line in vitro

Casarini Livio , Fornari Giulia , Simoni Manuela , Poti Francesco

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...