title: The impact of hemochromatosis mutations and transferrin genotype on gonadotropin serum levels in infertile men.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  Case-control and association study.
  
  
  METHODS
  Clinic of obstetrics and gynecology and university-based research laboratory.
  
  
  METHODS
  127 infertile men (including 97 with idiopathic infertility) and 188 controls of proven fertility.
  
  
  METHODS
  Polymerase chain reaction/restriction fragment length polymorphism (PCR-RFLP).
  
  
  METHODS
  HFE mutations and transferrin allelic polymorphism, and testosterone, prolactin, and gonadotropin serum levels.
  
  
  RESULTS
  The frequencies of the analyzed alleles and genotypes showed no statistically significant difference between infertile men 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 statistically significant correlation between serum follicle-stimulating hormone and luteinizing hormone levels and the combined HFE H63D/TFC2 genotype was found in 97 men with idiopathic infertility.
  
  
  CONCLUSIONS
  The combined HFE H63D/TF-C2 genotype contributed to 4.1% and 10.6% of follicle-stimulating hormone and luteinizing hormone variation, respectively, in infertile men, raising mean hormonal values above the normal physiologic range. Therefore, HFE and TF genes together may influence the hypothalamic-pituitary-gonadal axis, functioning at the pituitary or testes level.
authors.affiliation: Department of Biology and Medical Genetics, School of Medicine, University of Rijeka, Rijeka, Croatia. alena@medri.hr
authors.forename: Alena
authors.initials: A
authors.lastname: Buretić-Tomljanović
authors.forename: Ivan
authors.initials: I
authors.lastname: Vlastelić
authors.forename: Andelka
authors.initials: A
authors.lastname: Radojcić Badovinac
authors.forename: Nada
authors.initials: N
authors.lastname: Starcević-Cizmarević
authors.forename: Sergej
authors.initials: S
authors.lastname: Nadalin
authors.forename: Smiljana
authors.initials: S
authors.lastname: Ristić
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D005640:Follicle Stimulating Hormone / Q000097:blood*; D005838:Genotype; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007248:Infertility, Male / Q000097:blood / Q000235:genetics*; D007986:Luteinizing Hormone / Q000097:blood*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D014168:Transferrin / Q000235:genetics*
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014168:Transferrin; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone