Naslov
The impact of hemochromatosis mutations and transferrin genotype on gonadotropin serum levels in infertile men

Autori
Buretić-Tomljanović, Alena ; Vlastelić, Ivan ; Radojčić Badovinac, Anđelka ; Starčević Čizmarević, Nada ; Nadalin, Sergej ; Ristić, Smiljana

Izvornik
Fertility and Sterility (0015-0282) 91 (2009), 5; 1793-1800

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
male infertility; HFE C282Y mutation; HFE H63D mutation; transferrin gene polymorphism; gonadotropic hormones.

Sažetak
To address the possibility that HFE mutations and TF gene polymorphism cause dysfunction of spermatogenesis and/or the hypothalamic-pituitary-gonadal axis via contribution to long-term iron overload in the testes and brain. Setting: Case-control and association study. Clinic of Obstetrics and Gynaecology, University-based research laboratory. Patient(s): One hundred and twenty seven infertile males (including 97 with idiopathic infertility) and 188 control males of proven fertility. Intervention(s): PCR-RFLP. Main Outcome Measure(s): HFE mutations and transferrin allelic polymorphism, testosterone, prolactin and gonadotrophin serum levels. The frequencies of the analyzed alleles and genotypes did not differ significantly between infertile males and controls. Sperm count and progressive sperm motility did not correlate with HFE or TF genotype, or their combination. After excluding patients with clinical hypogonadism or varicocele from further analysis, a significant correlation between serum FSH and LH levels and the combined HFE H63D/TFC2 genotype was found in 97 men with idiopathic infertility (betaFSH= 0.204, p=0.046 ; betaLH=0.326 ; p=0.001). The combined HFE H63D/TF-C2 genotype contributed to 4.1 and 10.6% of FSH and LH variation, respectively, in infertile men, raising mean hormonal values above the normal physiological range. Therefore, HFE and TF genes together may influence the HPG axis, functioning at the pituitary or testes level.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA