Primary flagellar abnormality is associated with an increased rate of spermatozoa aneuploidy

The frequencies of aneuploid and diploid spermatozoa were determined in 3 patients presenting a complete asthenozoospermia due to a primary and specific flagellar anomaly: patients 1 and 2 presented a "stump tail syndrome," more than 50% of spermatozoa with a short flagella, patient 3 had a Kartagener syndrome including situs inversus, sinusitis, and bronchiectassis. No pregnancy was obtained after 3 intracytoplasmic sperm injection (ICSI) attempts in patients 1 and 2. A 3-color fluorescence in situ hybridization analysis was performed on their spermatozoa using centromeric probes for chromosomes X, Y, and 18 and compared with those of 8 fertile males. The frequency of disomic 18 and hyperhaploid XY spermatozoa was not significantly increased in the 3 patients when compared with controls. However, the 3 patients showed elevated frequencies of XX, YY, and diploid spermatozoa. These data add to growing evidence that systematic sperm anomalies of flagella increase the rate of spermatozoa aneuploidy and may also reduce the chances of pregnancy after intracytoplasmic sperm injection.