Male subfertility, modern reproduction techniques and transmission of genetic abnormalities
De Vries, J.J.; Christiaens, G.C.; van der Sijs-Bos, C.J.; van Kooij, R.J.; Kortman, M.
Nederlands Tijdschrift Voor Geneeskunde 141(23): 1138-1141
1997
ISSN/ISBN: 0028-2162 PMID: 9380143 Document Number: 470977
Somatic cells of males with azoospermia or oligozoospermia (sperm density < 20 million sperm cells/ml) were found to contain increased percentages of chromosomal abnormalities. Subfertile males with a normal somatic karyogram were found to have increased rates of aneuploidy in sperm. This creates risks for the offspring after fertilization with intracytoplasmatic sperm injection (ICSI). Certain gene mutations on the Y chromosome cause severe oligo- or azoospermia and will, in case of successful reproduction with ICSI, be transmitted to male offspring in 100% of the cases. The same holds true, irrespective of sex, of mutations responsible for cystic fibrosis. In non-random groups of ICSI pregnancies, higher proportions of de novo sex-chromosomal abnormalities have been found than expected. In addition, there are increased proportions of paternally inherited structural autosomal anomalies. Extrapolation of the findings is not yet possible, however.