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Fluorescence in situ hybridization sperm examination in male infertility

Alchinbayev, MK1Mansurova, IB1; Makazhanov, MA1; Tuleeva, LN1; Aubakirova, AT1

1: Scientific Center of Urology named after B.U.Dzharbussynov, Kazakhstan

Objective of the study was to reveal genetic abnormalities in men with infertility

Material and methods. There were 60 men examined, 48 suffered from male infertility, 12 – healthy men with children (control group). To reveal pathology the fluorescence in situ hybridization (FISH) sperm examination was used. All data was analyzed by ANOVA test.

Results. From 48 patients with pathozoospermia, 17 men had asthenozoospermia (35.4%), 14 – oligoasthenozoospermia (29.2%), 9 – oligozoospermia (18.7%) and 8 men had asthenoteratozoospermia (16.7%). After molecular-cytogenetic examination of sperm by the FISH method, it was revealed that the total frequency of aneuploidy in men with normozoospermia was 0.11 ± 0.06%, whereas in cases with pathozoospermia the frequency increased from 2.1% to 2.9% (p = 0.014). In asthenozoospermy the frequency of aneuploidy of the sperm nuclei was 2.9% ± 0.05 (p = 0.01), oligozoospermia - 2.1% ± 0.05 (p = 0.003), oligoasthenozoospermia - 2.8% ± 0.08 (p = 0.011), asthenoteratozoospermia - 2.5% ± 0.09 (p = 0.008), which significantly exceeded values of men with normozoospermia. The sperm deformity and the sperm multiple anomalies indexes in men with infertility were significantly higher comparing with men with normozoospermia (p<0.001). The most frequent chromosomal aberrations in pathozoospermia men were the disomy of X chromosome and nullisomy of Y chromosome, their frequency were 25% and 23%, respectively. Disomy of the Y chromosome was detected in 18.7%, disomy of 21 chromosomes - 12.5%, disomy of 18 chromosomes and nullisomy of X chromosome were detected in 10.4%. Asthenozoospermia and asthenoteratozoospermia were significantly correlated with detection of abnormalities in Y chromosome and chromosome 18 (p =0.004 and p <0 .001 respectively). Oligozoospermia was significantly correlated with increased aneuploidy rate of X chromosome (p = 0.003).

Conclusion. The genetic examination with FISH method is necessary for any case of men infertility, when there is no clear reason of disease. Clarification of the type of chromosomal defect will allow to predict the outcomes of male infertility and to determine the possibilities of assisted reproductive technologies.


Work supported by industry: no.

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