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. 2014 Apr;8(1):35-42.
Epub 2014 Mar 9.

Chromosomal abnormality in men with impaired spermatogenesis

Dana Mierla  1 , Dumitru Jardan  2 , Veronica Stoian  3
Affiliations

Chromosomal abnormality in men with impaired spermatogenesis

Dana Mierla et al. Int J Fertil Steril. 2014 Apr.

Abstract

Background: Chromosomal abnormalities and Y chromosome microdeletions are regarded as two most frequent genetic causes associated with failure of spermatogenesis in the Caucasian population.

Materials and methods: To investigate the distribution of genetic defects in the Romanian population with azoospermia or severe oligozoospermia, karyotype analysis by G-banding was carried out in 850 idiopathic infertile men and in 49 fertile men with one or more children. Screening for microdeletions in the azoospermia factor (AZF) region of Y chromosome was performed by multiplex polymerase chain reaction (PCR) on a group of 67 patients with no detectable chromosomal abnormality. The results of the two groups were compared by a two-tailed Fisher's exact test.

Results: In our study chromosomal abnormalities were observed in 12.70% and 8.16% of infertile and fertile individuals respectively.

Conclusion: Our data suggests that infertile men with severe azoospermia have higher incidences of genetic defects than fertile men and also patients from any other group. Infertile men with normal sperm present a higher rate of polymorphic variants. It is important to know whether there is a genetic cause of male infertility before patients are subjected to intracytoplasmic sperm injection (ICSI) or testicular sperm extraction (TESE)/ICSI treatment.

Keywords: Azoospermia; Chromosomal Abnormality; Chromosome Microdeletion; Male Infertility; Oligozoospermia.

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Figures

Fig 1
Fig 1
Isochomosom Y. Specific pattern of signals: an X chromosome specific signal (CEPX) and two signals characteristic of Y chromosome (SRY LSI). Result: 47,XYY. ish(CEPXx1) (SRYx2).
See this image and copyright information in PMC

References

    1. Douglas TC. The genetics of male infertility. New Jersey: Humana Press; 2007. pp. 99–99.
    1. Rowe PJ, Comhaire FH, Hargreave TB, Mellows HJ. WHO manual for the standardized investigation and diagnosis of the infertile couple. Geneva: Cambridge University Press; 2000. pp. 14–15.
    1. Dohle GR, Colpi GM, Hargreave TB, Papp GK, Jungwirth A, Weidner W, et al. EAU guidelines on male infertility. Eur Urol. 2005;48(5):703–711. - PubMed
    1. Schlegel PN, Pavlovich CP. Male infertility treatment options: a costeffectiveness analysis. JCOM. 1997;4:27–32.
    1. Khademi A, Safdarian L, Alleyassin A, Agha Hosseini M, Hamed EA, Saeidabadi HS, et al. The effect of L-carnitine on sperm parameters in patients candidated for Intracytoplasmic Sperm Injection. IJRM. 2004;2(2):65–69.

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