Human Reproduction, Vol. 15, No. 10, 2165-2172,
October 2000
© 2000 European Society of Human Reproduction and Embryology
Frequency of hyper-, hypohaploidy and diploidy in ejaculate, epididymal and testicular germ cells of infertile patients*
1 Department of Obstetrics/Gynaecology, S. Martino's Hospital, University of Genoa, Lgo R. Benzi 10, 16132 Genoa, 2 SISMER, Reproductive Medicine Unit, Bologna and 3 Human Genetic Laboratory, Galliera Hospital, Genoa, Italy
The hypothesis that sperm aneuploidy and diploidy increase as a function of spermatogenesis impairment was addressed. Ejaculated semen samples from a series of men (n = 22) with very low total normal motile count (1 x 106) was analysed in terms of sperm aneuploidy and diploidy by in-situ hybridization and compared with controls (n = 10). Germ cell aneuploidy was also analysed in an additional series of infertile patients presenting unexplained infertility (n = 3), congenital absence of the vas deferens (CAVD) (n = 6) and non-obstructive azoospermia (n = 3) undergoing IVF, microsurgical epididymal sperm aspiration (MESA)/ICSI and testicular sperm extraction (TESE)/ICSI cycles respectively. In-situ hybridization for chromosomes 1, 17, X and Y was performed on ejaculate, epididymal and testicular spermatozoa. Significantly higher sperm aneuploidy and diploidy rates where found (for the four chromosomes analysed) in spermatozoa from oligoasthenoteratozoospermia (OAT) over controls (18 versus 2.28% and 2.8 versus 0.13% respectively; P < 0.001). Testicular germ cells had even higher rates of sperm aneuploidy and diploidy. However, in this group it was difficult to determine whether the cells analysed were dysmorphic spermatozoa or spermatids. The data warrant further investigation on the cytogenetic abnormalities found in most germ cells identified in testicular tissue biopsies of azoospermic patients.
Key words: FISH/germ cells/male infertility/sperm aneuploidy
* Presented in part at the 15th Annual Meeting of the European Society of Human Reproduction (ESHRE) Conference, June 30 to July 3, 1999, Tours, France.
4 To whom correspondence should be addressed at: Department of Obstetrics/Gynaecology, S. Martino's Hospital, University of Genoa, Lgo R. Benzi 10, 16132 Genoa, Italy.E-mail: bernar01{at}aleph.it
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