Abstract
That previously infertile men may now reproduce through intracytoplasmic sperm injection (ICSI) has raised concern that genetic causes of male infertility may be transmitted to the ICSI-derived offspring. Male infertility is associated with several genetic abnormalities such as constitutive chromosome abnormalities, submicroscopic deletions of the Y chromosome, and mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. 1 de Kretser DM. Male infertility. Lancet. 1997; 349: 787-790 Summary Full Text Full Text PDF PubMed Scopus (336) Google Scholar At our andrology clinic, we carried out genetic screening for these three variables in a consecutive series of men with less than 1×106 motile sperm cells per mL, the inclusion criterion for the use of ICSI in the Netherlands. Both oligozoospermic (n=69) and azoospermic (n=11) men were included. All patients were karyotyped, and a consecutive subgroup (n=58) was also tested for Y-chromosomal deletions and CFTR mutations. We found an abnormal karyotype in peripheral blood lymphocytes in seven (8·8%) of 80 patients, ten-fold more than the overall population incidence of 0·85% 2 Nielsen J Wohlert M Chromosome abnormalities found among 34910 newborn children, results from a 13-year incidence study in Arhus. Hum Genet. 1991; 87: 81-83 Crossref PubMed Scopus (747) Google Scholar (p < 0·001, χ2 test; table).
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