Impact of chromosomal translocations on male infertility, semen quality, testicular volume and reproductive hormone levels

Journal of International Medical Research

Volumn 40, Issue 6, 2012, Pages 2274-2283

  Dong, Y ^a   Du, R C ^b   Jiang, Y T ^a   Wu, J ^a   Li, L L ^b   Liu, R Z ^a  

^a First Hospital   (China)

^b Basic Medical College   (China)

Author keywords

Azoospermia; Chromosomal translocations; Male infertility; Oligozoospermia; Reproductive hormones

Indexed keywords

FOLLITROPIN; LUTEINIZING HORMONE; PROLACTIN; SEX HORMONE; TESTOSTERONE;

ADULT; ARTICLE; AUTOSOME AUTOSOME RECIPROCAL TRANSLOCATION; AZOOSPERMIA; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION; COHORT ANALYSIS; CONTROLLED STUDY; GENOSOME AUTOSOME RECIPROCAL TRANSLOCATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; RETROSPECTIVE STUDY; ROBERTSONIAN CHROMOSOME TRANSLOCATION; SPERM; TESTIS SIZE;

EID: 84872259355     PISSN: 03000605     EISSN: 14732300     Source Type: Journal    
DOI: 10.1177/030006051204000625     Document Type: Article

References (33)

1. De Kretser DM: Male infertility. Lancet 1997; 349: 787-790.
2. Bhasin S, de Kretser DM, Baker HW: Clinical review 64: Pathophysiology and natural history of male infertility. J Clin Endocrinol Metab 1994; 79: 1525-1529.
3. Van Assche E, Bonduelle M, Tournaye H, et al: Cytogenetics of infertile men. Hum Reprod 1996; 11(suppl 4): 1-26.
4. Bhasin S, Ma K, Sinha I, et al: The genetic basis of male infertility. Endocrinol Metab Clin North Am 1998; 27: 783-805.
5. Balkan M, Akbas H, Isi H, et al: Cytogenetic analysis of 4216 patients referred for suspected chromosomal abnormalities in Southeast Turkey. Genet Mol Res 2010; 9: 1094-1103.
6. De Braekeleer M, Dao TN: Cytogenetic studies in male infertility: a review. Hum Reprod 1991; 6: 245-250.
7. Lanfranco F, Kamischke A, Zitzmann M, et al: Klinefelter's syndrome. Lancet 2004; 364: 273-283.
8. Retief AE, Van Zyl JA, Menkveld R, et al: Chromosome studies in 496 infertile males with a sperm count below 10 million/ml. Hum Genet 1984; 66: 162-164.
9. Tiepolo L, Zuffardi O: Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 1976; 34: 119-124.
10. Kihaile PE, Yasui A, Shuto Y: Prospective assessment of Y-chromosome microdeletions and reproductive outcomes among infertile couples of Japanese and African origin. J Exp Clin Assist Reprod 2005; 2: 9.
11. Balkan M, Tekes S, Gedik A: Cytogenetic and Y chromosome microdeletion screening studies in infertile males with Oligozoospermia and Azoospermia in Southeast Turkey. J Assist Reprod Genet 2008; 25: 559-565.
12. World Health Organization: WHO Laboratory Manual for the Examination of Human Semen and Sperm-cervical Mucus Interaction, 4th edn. Cambridge: Cambridge University Press, 1999.
13. Shaffer LG, Tommerup N (eds): International Software Consulting Network (ISCN). An International System for Human Cytogenetic Nomenclature. Basel: S Karger, 1995; pp 59-84.
14. Wang RX, Fu C, Yang YP, et al: Male infertility in China: laboratory finding for AZF microdeletions and chromosomal abnormalities in infertile men from Northeastern China. J Assist Reprod Genet 2010; 27: 391-396.
15. Martin RH: Cytogenetic determinants of male fertility. Hum Reprod Update 2008; 14: 379-390.
16. Berger R: The incidence of constitutional chromosome aberrations. J Genet Hum 1975; 23(suppl): 42-49. [in French].
17. rd edn. New York: Springer-Verlag, 1993; pp 273-287.
18. Ferlin A, Arredi B, Foresta C: Genetic causes of male infertility. Reprod Toxicol 2006; 22: 133-141.
19. Mau-Holzmann UA: Somatic chromosomal abnormalities in infertile men and women. Cytogenet Genome Res 2005; 111: 317-336.
20. Alves C, Carvalho F, Cremades N, et al: Unique (Y;13) translocation in a male with oligozoospermia: cytogenetic and molecular studies. Eur J Hum Genet 2002; 10: 467-474.
21. Ma S, Yuen BH, Penaherrera M, et al: ICSI and the transmission of X-autosomal translocation: a three-generation evaluation of X;20 translocation: case report. Hum Reprod 2003; 18: 1377-1382.
22. Oliver-Bonet M, Benet J, Sun F, et al: Meiotic studies in two human reciprocal translocations and their association with spermatogenic failure. Hum Reprod 2005; 20: 683-688.
23. Solari AJ: Synaptonemal complex analysis in human male infertility. Eur J Histochem 1999; 43: 265-276.
24. Brugnon F, Van Assche E, Verheyen G, et al: Study of two markers of apoptosis and meiotic segregation in ejaculated sperm of chromosomal translocation carrier patients. Hum Reprod 2006; 21: 685-693.
25. Pandiyan N, Jequier AM: Mitotic chromosomal anomalies among 1210 infertile men. Hum Reprod 1996; 11: 2604-2608.
26. Mark HF, Sigman M: Male infertility associated with a unique 8;22 translocation. Exp Mol Pathol 1999; 67: 57-61.
27. Baccetti B, Capitani S, Collodel G, et al: Infertile spermatozoa in a human carrier of Robertsonian translocation 14;22. Fertil Steril 2002; 78: 1127-1130.
28. Aydos SE, Tükün A: Infertility in a man with oligoasthenoteratozoospermia associated with nonrobertsonian translocation t(9;15) (p10;q10). Fertil Steril 2006; 86: 1001e7-1001e9.
29. Ishikawa T, Kondo Y, Yamaguchi K, et al: An unusual reciprocal X-autosome translocation in an infertile azoospermic man. Fertil Steril 2007; 88: 705.e15-705.e17.
30. Leclercq S, Auger J, Dupont C, et al: Sperm FISH analysis in two healthy infertile brothers with t(15;18) unbalanced translocation: implications for genetic counselling and reproductive management. Eur J Med Genet 2010; 53: 127-132.
31. McLachlan RI, O'Donnell L, Meachem SJ, et al: Hormonal regulation of spermatogenesis in primates and man: insights for development of the male hormonal contraceptive. J Androl 2002; 23: 149-62.
32. Bartoov B, Eltes F, Lunenfeld E, et al: Sperm quality of subfertile males before and after treatment with human follicle-stimulating hormone. Fertil Steril 1994; 61: 727-734.
33. Keymolen K, Staessen C, Verpoest W, et al: A proposal for reproductive counselling in carriers of Robertsonian translocations: 10 years of experience with preimplantation genetic diagnosis. Hum Reprod 2009; 24: 2365-2371.