Searchable abstracts of presentations at key conferences in endocrinology

ea0035p643 | Female reproduction | ECE2014

The FSHR polymorphism p.N680S mediates different response kinetics to FSH in vitro

Casarini Livio , Moriondo Valeria , Marino Marco , Adversi Francesca , Capodanno Francesco , Grisolia Chiarina , Marca Antonio La , Sala Giovanni Battista La , Simoni Manuela

Introduction: FSH acts on its receptor (FSHR) resulting in signal transduction activation, gene expression and steroidogenesis. The FSHR common SNP p.N680S is a marker of gonadal response in vivo. However, in vitro dose–response experiments failed to demonstrate the molecular basis thereof so far. In this study, we systematically investigated whether p.N680S mediates different kinetics of FSH response in vitro.Des...

ea0032p586 | Female reproduction | ECE2013

The combination of genetic variants in the FSHR and FSHB genes affect serum FSH in women of reproductive age

Moriondo Valeria , La Marca Antonio , Papaleo Enrico , Alviggi Carlo , Ruvolo Gianni , Giuseppe De Placido , Candiani Massimo , Cittadini Ettore , De Michele Francesca , Catellani Valeria , Volpe Annibale , Simoni Manuela

Introduction: The relationship between SNPs of the FSHR gene and serum FSH has not been completely clarified. Genetic variants of the FSHB gene have been associated to variation in gene transcription and to serum FSH levels in men. An interesting joint effect of both FSHB −211G>T and FSHR 2039 A>G on male reproductive parameters has been recently observed. No data have been published on the effect of the FSHB −211G>T in combination with the FSHR 2039 A&...