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Erkek infetilitesinde genetik değerlendirme

Year 2007, Volume: 14 Issue: 4, 48 - 52, 06.05.2009

Abstract

Süleyman Demirel Üniversitesi
TIP FAKÜLTESİ DERGİSİ: 2007 Aralık; 14(4)










Erkek infetilitesinde genetik değerlendirme



Pınar Aslan Koşar, Nurten Özçelik

Süleyman Demirel Üniversitesi, Tıp Fakültesi, Tıbbi Biyoloji Anabilim Dalı, Isparta.



Özet



Infertil vakaların yaklaşık %50.si erkek kökenli bir probleme bağlıdır. Bu derlemede, erkek infertilitesine neden olan genetik faktörler değerlendirilmiştir. Özellikle azospermik ve şiddetli oligospermik hastalarda genetik anormalliklerin sıklığı nedeni ile bu hastalarda genetik değerlendirme gereklidir. Infertilitenin genetik nedenleri, Y-kromozom mikrodelesyonları, konjenital vaz deferens agenezine neden olan kistik fibrozis gen mutasyonları, sayısal ve yapısal kromozom anomalileri, semptomlarından biri infertilite olan genetik sendromlar şeklinde sınıflandırılabilir. Erkek infertilitesinin genetik sebeblerini anlamak, hem tedavi yaklaşımları hem de onların doğacak bebeklerinin taşıyabileceği riskler hakkında hastaların bilgilendirilmesi açısından önem taşımaktadır.



Anahtar Kelimeler: Erkek infertilitesi, kromozomal anormallikler, Y kromozom mikrodelesyonları



Abstract



Genetic evaluation in the male infertility



An around %50 percent of cases with infertility is due to a male factor problem. In this review, it was evaluated the genetic disorders, that are caused male infertility. Because of frequency of genetic abnormality in patients with azoospermia and severe oligozoospermia, genetic examination is mandatory in these patients. The genetic causes of male infertility can be broken down into Y chromosome microdeletions, mutations in the gene for cystic fibrosis, which are caused congenital vas deferens agenesis, numerical and structural chromosomal aberrations, genetically determined syndromes in which infertility is a symptom. An understanding of the genetic causes of male infertility is quite important for the appropriate counseling of patients about treatment options and risks to their potential offspring.



Key words: Male infertility, chromosomal abnormalities, Y chromosome microdeletions

References

  • Kadýoðlu A, Çayan S, Semerci B, Orhan Ý, Aþçý R, Yaman MÖ, Usta MF, Kendirci M. Erkek reprodüktif sistem hastalýklarý ve tedavisi, 2004;232- 237.
  • Tiepolo ve Zuffardi. Lokalization of factor controlling spermatogenezis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet, 1976;34: 119-24.
  • Kent-First M, Muallem A, Shultz j. Defining regions of the Y chromosome responsible for male infertility and identification of a fourt AZF region (AZFd) by Y chromosome microdeletion detection. Molec Reprodand Develop, 1999; 53: 27-41.
  • Affara NA , Mitchell MJ. The role of human and mause y chromosome genes in male infertility. J Endocrinol Invest, 2000; 23: 630-645.
  • Lamb DJ. Debate: Is ICSI a genetic time bomb? Yes. J Androl,2003; 20:23-27.
  • Shah K, Sivapalan G, Gibbons N, Tempes H, Griffin DK. The genetic basis of infertility. Reproduction, 2003;126:13-25.
  • Düzcan F, Atmaca M, Özcan ÇG, Baðcý H. Cytogenetic studies in patients with reproductive failure. Acto Obstet Gynecol Scand, 2003;82: 53-56. 8-Stansfield W.D. Theory and problems of genetics.Schum’s outline series. McGraw-Hill, New York, 1958; 43-48.
  • Johnson MD. Genetic risks of ÝCSÝ in the treatment of male infertility. Recommendations for genetic counseling and screening. Fertil Steril, 1998;70: 397- 411.
  • Van Asche E, Boundella M, Tournaye H. Cytogenetics of infertile men. Hum Reprod, 1996;11 (Supp4): 1-24.
  • Hargreave T. Genetic basis of male infertility. B Med Bul, 2000;3: 650-71.
  • Quinzii C, Castellani C. The cystic fibrosis transmembrane regulatör gene and male infertility. J Endocrinol invest, 2000; 23: 684-90.
  • Mc callum T, Milunsky J, Munariz R, Carson R, Sadeghi- Nejad H, Oates R. Unilateral renal agenesis associated with congenital bilateral absence of the vas deferens: phenotypic findings and genetic considerations. Hum Reprod, 2001;16:282-86. 14-Chillon M, Casals T, Mercier B, Bassas L, Lissens W, Silber S. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med, 1995;332:1475-80.
  • Bertuzzo CS, Pýnto Jr W. Molecular screening of CFTR gene in Brazilian men with bilateral agenesis of the vas deferens. Human Fertil, 2006;9: 53-56. 16-Rutland J, de long RU. Random ciliary orientation. A cause of respiratory tract disease. N Engl J Med, 1990;323: 1681-87.
  • Özdiler E, Aydos K. Klinik Androloji. Ankara, 2000;71-101.
  • Elsawi MM, Pryor Jp, Klufio G, Barnes J, Patton MA. Genital TRact function in men with Noonan syndrome. J Med Genet,1994;31: 468-72. 19-Osegbe DN, Akiyanju OO. Testicular dysfunction in men with sickle cell disease. Postgrad Med J, 1987;63: 95-100.
  • Bick D, Franco B, Sherins RJ, Heye B, Pike L, Crawford J. Brief report: intragenic deletion of the KALIG-1 gene in Kallmann’s syndrome. N Engl J Med, 1992;326: 1752-53.
Year 2007, Volume: 14 Issue: 4, 48 - 52, 06.05.2009

Abstract

References

  • Kadýoðlu A, Çayan S, Semerci B, Orhan Ý, Aþçý R, Yaman MÖ, Usta MF, Kendirci M. Erkek reprodüktif sistem hastalýklarý ve tedavisi, 2004;232- 237.
  • Tiepolo ve Zuffardi. Lokalization of factor controlling spermatogenezis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet, 1976;34: 119-24.
  • Kent-First M, Muallem A, Shultz j. Defining regions of the Y chromosome responsible for male infertility and identification of a fourt AZF region (AZFd) by Y chromosome microdeletion detection. Molec Reprodand Develop, 1999; 53: 27-41.
  • Affara NA , Mitchell MJ. The role of human and mause y chromosome genes in male infertility. J Endocrinol Invest, 2000; 23: 630-645.
  • Lamb DJ. Debate: Is ICSI a genetic time bomb? Yes. J Androl,2003; 20:23-27.
  • Shah K, Sivapalan G, Gibbons N, Tempes H, Griffin DK. The genetic basis of infertility. Reproduction, 2003;126:13-25.
  • Düzcan F, Atmaca M, Özcan ÇG, Baðcý H. Cytogenetic studies in patients with reproductive failure. Acto Obstet Gynecol Scand, 2003;82: 53-56. 8-Stansfield W.D. Theory and problems of genetics.Schum’s outline series. McGraw-Hill, New York, 1958; 43-48.
  • Johnson MD. Genetic risks of ÝCSÝ in the treatment of male infertility. Recommendations for genetic counseling and screening. Fertil Steril, 1998;70: 397- 411.
  • Van Asche E, Boundella M, Tournaye H. Cytogenetics of infertile men. Hum Reprod, 1996;11 (Supp4): 1-24.
  • Hargreave T. Genetic basis of male infertility. B Med Bul, 2000;3: 650-71.
  • Quinzii C, Castellani C. The cystic fibrosis transmembrane regulatör gene and male infertility. J Endocrinol invest, 2000; 23: 684-90.
  • Mc callum T, Milunsky J, Munariz R, Carson R, Sadeghi- Nejad H, Oates R. Unilateral renal agenesis associated with congenital bilateral absence of the vas deferens: phenotypic findings and genetic considerations. Hum Reprod, 2001;16:282-86. 14-Chillon M, Casals T, Mercier B, Bassas L, Lissens W, Silber S. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med, 1995;332:1475-80.
  • Bertuzzo CS, Pýnto Jr W. Molecular screening of CFTR gene in Brazilian men with bilateral agenesis of the vas deferens. Human Fertil, 2006;9: 53-56. 16-Rutland J, de long RU. Random ciliary orientation. A cause of respiratory tract disease. N Engl J Med, 1990;323: 1681-87.
  • Özdiler E, Aydos K. Klinik Androloji. Ankara, 2000;71-101.
  • Elsawi MM, Pryor Jp, Klufio G, Barnes J, Patton MA. Genital TRact function in men with Noonan syndrome. J Med Genet,1994;31: 468-72. 19-Osegbe DN, Akiyanju OO. Testicular dysfunction in men with sickle cell disease. Postgrad Med J, 1987;63: 95-100.
  • Bick D, Franco B, Sherins RJ, Heye B, Pike L, Crawford J. Brief report: intragenic deletion of the KALIG-1 gene in Kallmann’s syndrome. N Engl J Med, 1992;326: 1752-53.
There are 16 citations in total.

Details

Primary Language English
Journal Section Reviews
Authors

Pınar Koşar This is me

Nurten Özçelik This is me

Publication Date May 6, 2009
Submission Date May 6, 2009
Published in Issue Year 2007 Volume: 14 Issue: 4

Cite

Vancouver Koşar P, Özçelik N. Erkek infetilitesinde genetik değerlendirme. Med J SDU. 2009;14(4):48-52.

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