Detection of sex chromosome aneuploidy of epididymal spermatozoa from obstructive azoospermic men

Abstract

Intracytoplasmic sperm injection (ICSI) is in efficient treatment for obstructive azoospermia using epididymal spermatozoa. However, serious concern about the risk of chromosomal aneuploidies from paternal origin in the children still exist. The data on the frequencies of chromosomal abnormalities in epididymal spermatozoa from obstructive azoospermic men are very few, therefore the frequencies of sperm aneuploidy and diploidy of epididymal spermatozoa from obstructive azoospermic men were evaluated. Epididymal spermatozoa retrieved from 24 obstructive azoospermic men by percutaneous epididymal sperm aspiration (PESA) and ejaculated spermatozoa from 24 healthy fertile donors were analyzed using three colour fluorescence in-situ hybridization (FISH) techniques to evaluate the rates of diploidy and aneuplodiy for chromosome 18, X and Y. Epididymal spermatozoa form obstructive azoospermic men had total sex aneuploidy,disomy 18 and diploidy rates significantly higher than ejaculated spermatozoa from normozoospermic fertile controls (1.44% vs 0.14 %, 0.11% vs 0.02% and 0.18%, respectively; p<0.005). The total sperm aneuploidy and diploidy rates were not statistically different between the vasectomized patients with failed vasectomy reversal (n=12) and the patients with other causes of obstructive azoospermia (n=12). In conclusion, obstructive azoospermic patients had an elevated epididymal sperm aneuploidy and diploidy rate. These results may be useful in counseling the obstructive azoospermic patients before ICSI treatment.