Chromosome analysis of epididymal and testicular spermatozoa in patients with azoospermia

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Abstract

Azoospermic patients can now father children once spermatozoa have been retrieved from the epididymis or the testis. However, there are concerns about the risk of chromosomal abnormalities since an increase in sperm aneuploidy rate has been reported in samples from patients with abnormal sperm parameters. The purpose of this study was therefore to evaluate the sperm aneuploidy and diploidy rates for chromosomes 8, 12, 18, X and Y in spermatozoa extracted from the epididymes (n=10) or the testes (n=6) of patients with azoospermia. Ejaculated spermatozoa of healthy men (n=14) served as control. Epididymal and testicular spermatozoa had an aneuploidy rate significantly higher than that found in ejaculated spermatozoa. The aneuploidy and diploidy rates of testicular spermatozoa were higher, but not significantly different, than those found in epididymal spermatozoa. This study has shown that azoospermic patients have an increased sperm aneuploidy rate. They should therefore be given appropriate genetic counselling before entering in-vitro fertilisation programs.

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Burrello, N., Calogero, A. E., De Palma, A., Grazioso, C., Torrisi, C., Barone, N., … Vicari, E. (2002). Chromosome analysis of epididymal and testicular spermatozoa in patients with azoospermia. European Journal of Human Genetics, 10(6), 362–366. https://doi.org/10.1038/sj.ejhg.5200814

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