Cytogenetic and andrological status and ICSI-results in couples with severe male factor infertility

To pursue whether cytogenetic aberrations correlate with specific spermatological or hormonal abnormalities.

305 infertile couples were investigated. All male partners were referred to a complete andrological work-up with physical examination, determination of hormones, HIV testing and semen analysis. Cytogenetic analysis was carried out in both partners by means of standard techniques using cultured lymphocytes from peripheral blood.

Among the 305 couples, 10 men (3.2%) and 10 women (3.2%) showed constitutional chromosomal aberrations, including reciprocal translocations (n = 7), Robertsonian translocations (n = 3), inversions (n = 3), other structural aberrations (n = 4) and sex chromosome aberration (n = 3). In addition to the impaired sperm count in most of the patients, a tendency to an increased proportion of spermatozoa with acrosome defect was observed.

Chromosomal aberrations may contribute to the low fertilization and pregnancy rates in the infertile couples.