Fertility and Sterility
Volume 91, Issue 5 , Pages 1793-1800 , May 2009

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

  • Alena Buretić-Tomljanović, Ph.D.

      Affiliations

    • Department of Biology and Medical Genetics, School of Medicine, University of Rijeka, Rijeka, Croatia
    • Corresponding Author InformationReprint requests: Alena Buretić-Tomljanović, Ph.D., Department of Biology and Medical Genetics, School of Medicine, University of Rijeka, Braće Branchetta 22, 51 000 Rijeka, Croatia (FAX: +385-51-678-896).
    • ,
  • Ivan Vlastelić, M.D., M.S.

      Affiliations

    • Department of Human Reproduction, Clinic of Obstetrics and Gynaecology, Clinical Medical Centre Rijeka, Rijeka, Croatia
    • ,
  • Anđelka Radojčić Badovinac, M.D., Ph.D.

      Affiliations

    • Department of Biology and Medical Genetics, School of Medicine, University of Rijeka, Rijeka, Croatia
    • Department of Human Reproduction, Clinic of Obstetrics and Gynaecology, Clinical Medical Centre Rijeka, Rijeka, Croatia
    • ,
  • Nada Starčević-Čizmarević, M.S.

      Affiliations

    • Department of Biology and Medical Genetics, School of Medicine, University of Rijeka, Rijeka, Croatia
    • ,
  • Sergej Nadalin, M.D.

      Affiliations

    • Department of Biology and Medical Genetics, School of Medicine, University of Rijeka, Rijeka, Croatia
    • ,
  • Smiljana Ristić, Ph.D.

      Affiliations

    • Department of Biology and Medical Genetics, School of Medicine, University of Rijeka, Rijeka, Croatia

Received 20 September 2007 ,Revised 15 February 2008 ,Accepted 15 February 2008.

References 

  1. Andrews NC. Iron metabolism: iron deficiency and iron overload. Ann Rev Genom Hum Genet. 2000;1:75–98
  2. Parkkila S, Waheed A, Britton RS, Feder JN, Tsuchihashi Z, Schatzman RC, et al. Immunohistochemistry of HLA-H, the protein defective in patients with hereditary haemochromatosis, reveals unique pattern of expression in gastrointestinal tract. Proc Natl Acad Sci USA. 1997;94:2534
  3. Limdi JK, Crampton JR. Hereditary haemochromatosis. QJM. 2004;97:315–324
  4. O'Sullivan EP, Walsh CH. Endocrinopathy of HFE-related hemochromatosis. Expert Rev Endocrinol Metab. 2007;2:277–286
  5. Peillon F, Racadot J. Histopathological in the hypophysis in 6 cases of hemochromatosis. Ann Endocrinol (Paris). 1969;30:800–807
  6. Bergeron C, Kovacs K. Pituitary siderosis a histologic, immunocytologic, and ultrastructural study. Am J Pathol. 1978;93:295–310
  7. McDermott JH, Walsh CH. Hypogonadism in hereditary hemochromatosis. J Clin Endocrinol Metab. 2005;90:2451–2455
  8. Okamoto CT. From genetics to cellular physiology. Focus on “regulation of transferrin-induced endocytosis by wild-type and C282Y-mutant HFE in transfected HeLa cells”. Am J Physiol Cell Physiol. 2002;282:C971–C972
  9. Merryweather-Clarke AT, Pointon JJ, Jouanolle AM, Rochette J, Robson KJ. Geography of HFE C282Y and H63D mutations. Genet Test. 2000;4:183–198
  10. Wong CT, Saha N. Effects of transferrin genetic phenotypes on total iron-binding capacity. Acta Haematol. 1986;75:215–218
  11. Robson KJH, Lehmann DJ, Wimhurst VLC, Livesey KJ, Combrinck M, Merryweather-Clarke AT, et al. Synergy between the C2 alelle of transferrin and C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's disease. J Med Genet. 2004;41:261–265
  12. Hayflick SJ. Neurodegeneration with brain iron accumulation: from genes to pathogenesis. Semin Pediatr Neurol. 2006;13:182–185
  13. Peterlin B, Kunej T, Hruskovicovà H, Ferk P, Gersak K, Zorn B. Analysis of the hemochromatosis mutations C282Y and H63D in infertile men. Fertil Steril. 2006;86:1796–1798
  14. Simoni M, Bakker E, Eurlings MC, Matthijs G, Moro E, Muller CR, et al. Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions. European Molecular Genetics Quality Network (EMQN). 2001;1–7
  15. World Health Organisation . Laboratory manual for the examination of human semen and semen-cervical mucus interaction. 4th ed.. Cambridge University Press, Cambridge, United Kingdom; 1999;
  16. In:  Abraham GE editors. Handbook of radioimmunoassay. Marcel Dekker; 1977;
  17. Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJ. Global prevalence of putative haemochromatosis mutations. J Med Genet. 1997;34:275–278
  18. Ristić S, Makuc J, Starčević N, Logar N, Brajenović-Milić B, Stepec S, et al. Hemochromatosis gene mutations in the Croatian and Slovenian populations. Clin Genet. 2003;64:444–446
  19. Anderson GJ, Frazer DM. Iron metabolism meets signal transduction. Nat Genet. 2006;38:503–504
  20. Goswami T, Andrews NC. Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing. Biol Chem. 2006;281:28494–28498
  21. Roy CN, Custodio AO, de Graaf J, Schneider S, Akpan I, Montross LK, et al. An HFE-dependent pathway mediates hyposideremia in response to lipopolysaccharide-induced inflammation in mice. Nat Genet. 2004;36:481–485
  22. Garrido N, Meseguer M, Simon C, Pellicer A, Remoh J. Pro-oxidative and anti-oxidative imbalance in human semen and its relation with male fertility. Asian J Androl. 2004;6:59–65
  23. Weinzimer SA, Gibson TB, Collett-Solberg PF, Khare A, Liu B, Cohen P. Transferrin is an insulin-like growth factor-binding protein-3 binding protein. J Clin Endocrinol Metab. 2001;86:1806–1813
  24. Takeda A. Significance of transferrin in iron delivery to the brain. J Health Sci. 2001;47:520–524
  25. Hill JM, Ruff MR, Weber RJ, Pert CB. Transferrin receptors in rat brain: neuropeptide-like pattern and relationship to iron distribution. Proc Natl Acad Sci USA. 1985;82:4553–4557
  26. Migrenne S, Chrystèle Racine, Guillou F, Habert R. Pituitary hormones inhibit the function and differentiation of fetal Sertoli cells. Endocrinology. 2003;144:2617–2622
  27. Grover A, Smith CE, Gregory M, Cyr DG, Sairam MR, Hermo L. Effects of FSH receptor deletion on epididymal tubules and sperm morphology, numbers, and motility. Mol Reprod Dev. 2005;72:135–144
  28. Andersson AM, Jørgensen N, Frydelund-Larsen L, Raypert-De Meyts E, Skakkebæk NE. Impaired Leydig cell function in infertile men: a study of 357 idiopathic infertile men and 318 proven fertile controls. J Clin Endocrinol Metab. 2004;89:3161–3167
  29. Anaplitoou ML, Goulandris N, Douvara R. Seminal fibronectin-like antigen and transferrin concentrations in infertile and fertile men. Andrologia. 1995;27:137–142
  30. Kawakami E, Hori T, Tsutsui T. Azoospermia of dogs with apoptotic germ cells and Leydig cells. J Vet Med Sci. 2000;62:529–531
  31. Kawakami E, Hori T, Tsutsui T. Relationship between testicular transferrin and plasma estradiol-17beta concentrations of dogs with azoospermia and dogs with Sertoli cell tumors. Vet Med Sci. 2001;63:579–581
  32. Yoshida KI, Nakame Y, Uchijima Y. Seminal plasma transferrin concentration in normozoospermic fertile men and oligozoospermic men associated with varicocele. Int J Fertil. 1988;33:432–436
  33. Kosar A, Sarica K, Ozdiler E. Effect of varicocelectomy on seminal plasma transferrin values: a comparative clinical trial. Andrologia. 2000;32:19–22
  34. Wu N, Murono EP. Temperature and germ cell regulation of Leydig cell proliferation stimulated by Sertoli cell-secreted mitogenic factor: a possible role in cryptorchidism. Andrologia. 1996;28:247–257
  35. Roberts KP, Santulli R, Seiden J, Zirkin BR. The effect of testosterone and subsequent germ cell depletion on transferrin and sulfated glycoprotein-2 messenger ribonucleic acid levels in the adult rat testis. Biol Reprod. 1992;47:92–96
  36. Tang K, Bartke A, Gardiner CS, Wagner TE, Yun JS. Testosterone feedback on gonadotropin secretion and gene expression in transgenic mice expressing human growth hormone gene. J Androl. 1994;15:9–14
  37. Pryor JL, Krieg RJ, Evans WS, Batson J, Turner TT. Luteinizing hormone secretion by male rat pituitary cells perifused in vitro: effect of experimental left varicocele and orchiectomy. J Androl. 1989;10:372–377
  38. Dohle GR, Jungwirth A, Colpi G, Givercman A, Diemer T, Hargreave TB. Guidelines on male infertility. European Association of Urology. 2007;7–70

 A.B-T. has nothing to disclose. I.V. has nothing to disclose. A.R.B. has nothing to disclose. N.S-C. has nothing to disclose. S.N. has nothing to disclose. S.R. has nothing to disclose.

PII: S0015-0282(08)00495-0

doi: 10.1016/j.fertnstert.2008.02.129

Fertility and Sterility
Volume 91, Issue 5 , Pages 1793-1800 , May 2009

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