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Human Reproduction, Vol. 19, No. 1, 118-123, January 2004
© 2004 European Society of Human Reproduction and Embryology

Analysis of chromosomal abnormalities in testicular and epididymal spermatozoa from azoospermic ICSI patients by fluorescence in-situ hybridization

L. Rodrigo1, C. Rubio1, E. Mateu1, C. Simón1,2, J. Remohí1,2, A. Pellicer1,2 and M. Gil-Salom1,3,4

1 Instituto Valenciano de Infertilidad, Valencia and Departments of 2 Pediatrics, Obstetrics and Gynecology and 3 Surgery, University of Valencia, Valencia, Spain

4 To whom correspondence should be addressed at: Instituto Valenciano de Infertilidad, Plaza Policía Local 3, 46015 Valencia, Spain. e-mail: Manuel.Gil-salom{at}uv.es

BACKGROUND: An increased incidence of numerical chromosomal abnormalities has been reported in the ejaculated spermatozoa of infertile patients. However, there are few cytogenetic studies of testicular and epididymal spermatozoa, and their results are still controversial. METHODS: Fluorescence in-situ hybridization (FISH) analysis of chromosomes 13, 18, 21, X and Y was performed on seven testicular samples and two epididymal samples from patients with obstructive azoospermia (OA), and on 13 testicular samples from patients with non-obstructive azoospermia (NOA). Five ejaculated sperm samples from normozoospermic fertile donors were evaluated as a control group. RESULTS: Both epididymal sperm samples showed normal FISH results for the parameters analysed when compared with those of the control group. FISH results were abnormal in 29% (two of seven) of testicular samples from OA patients and in 54% (seven of 13) of those from NOA patients, although this difference was not statistically significant. Testicular samples from OA patients showed a significant increase of disomy for sex chromosomes (P < 0.01), whereas NOA patients displayed significantly higher rates of diploidy (P < 0.0001) and disomy for chromosomes 13 (P < 0.0001), 21 (P < 0.001) and sex chromosomes (P < 0.0001) than the control group. CONCLUSIONS: Testicular spermatozoa from azoospermic patients present increased rates of chromosomal abnormalities, mainly of the sex chromosomes, which are particularly high in NOA patients.

Key words: azoospermia/chromosomal abnormality/epididymal spermatozoa/fluorescence in-situ hybridization/testicular spermatozoa

Submitted June 9, 2003 ; accepted September 23, 2003
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