Impact of the FSHB gene -211G/T polymorphism on male gonadal function

Purpose The FSHB gene -211G/T polymorphism has been reported to modulate gene expression and to cause inter- individual differences in FSH serum levels in men. This study was undertaken to assess the functional relevance of this poly- morphism on gonadotropin and total testosterone serum levels and sperm parameters in men from Eastern Sicily (Italy). Methods To accomplish this, 200 men with abnormal conven- tional sperm parameters or normozoospermia (according to the parameters of WHO 2010) were genotyped by TaqMan Assay. Results The frequency of FSHB -211 T allele was significantly higher (p < 0.005) in patients with altered conventional sperm parameters (18.9% of chromosomes) compared to that observed in men with normozoospermia (10.9% of chromosomes). Decreasing serum levels of FSH and LH were observed across the three FSHB -211 genotype subgroups (p < 0.001 and p < 0.05, respectively). In addition, the FSHB -211G/T polymorphism showed a total testosterone downward trend that became more evident in men with the TT genotype compared to subjects with the GG genotype (p = 0.05). Furthermore, we found a trend towards decreased sperm concentration, total sperm count, sperm forward motility and testicular volume in men with GT and TT genotypes.