High frequency of XY disomy in spermatozoa of severe oligozoospermic men

Abstract

Frequencies of disomy and diploidy in spermatozoa for chromosomes X, Y and 18 were compared among severe oligozoospermic men (<5x10(6) spermatozoa/ml), oligozoospermic men (5-20x10(6) spermatozoa/ml), and normospermic men using three-colour fluorescence in-situ hybridization (FISH). Semen samples were collected from 10 severe oligozoospermic men aged 26-49 years, 10 oligozoospermic men aged 27-48 years and seven normospermic men aged 25-31 years. Karyotypes in lymphocytes obtained from peripheral blood were all 46,XY. In severe oligozoospermic men, analysis of 200 interphases per individual using FISH showed XY constitutions for sex chromosomes in all cells. A minimum of 10 000 sperm nuclei per individual for each chromosome was evaluated in severe oligozoospermic men and oligozoospermic men, and a minimum of 6000 sperm nuclei per individual in normospermic men. In total, 245 707 sperm nuclei were evaluated. The hybridization efficiency was 99.8%. The severe oligozoospermic men showed significantly higher frequencies of XY disomy (0.41%) and diploidy (0.49%) compared with oligozoospermic men (0.16%, P < 0.01; 0.22%, P < 0.05) and normospermic men (0.18%, P < 0.05; 0.21%, P < 0.05) (Mann-Whitney U-test). The data suggest that when severe oligozoospermic men undergo intracytoplasmic sperm injection, there can be an increase in the rate of conceptuses with 47,XXY chromosomes.

Detection of aneuploidy rate for chromosomes X, Y and 8 by fluorescence in-situ hybridization in spermatozoa from patients with severe non-obstructive oligozoospermia

“…Our results suggested that nondisjunction for chromosomes X and Y can occur at the first and the second meiotic division with the same frequency. Our findings were in discordance with the data of Schmid et al [11] and Ohashi et al [15] who did not show a statistically significant difference in the disomy XX and YY in oligozoospermic men compared to control group. They suggested that chromosomal non disjunction occurs mainly during the first meiotic division [11,15].…”

“…Our findings were in discordance with the data of Schmid et al [11] and Ohashi et al [15] who did not show a statistically significant difference in the disomy XX and YY in oligozoospermic men compared to control group. They suggested that chromosomal non disjunction occurs mainly during the first meiotic division [11,15]. In the present study, we did not found an increase in autosomal disomy of chromosome 8.…”

“…As shown in our study, inverse relationships between sperm concentration and the mean frequency of disomy of sex chromosome and diploidy were found. Our results are in accordance with the data of many other studies that reported significant negative correlations between sperm concentration and the mean frequency of disomy, especially for the sex chromosomes [6,10,15,21,22]. However, other studies did not show a significant correlation between sex disomy rates and sperm concentration [3,20,23,24].…”

“…However no statistically significant difference was observed in the frequency of disomy and nullisomy of chromosome 8. The rate of XY-bearing [10,15,16]. In fact, Ohashi et al [15] studied chromosomes 18, X and Y in 20 oligozoospermic men, 10 with sperm concentration of <5×10 6 sperm/ml and 10 with 5-20×10 6 sperm/ml.…”

“…The rate of XY-bearing [10,15,16]. In fact, Ohashi et al [15] studied chromosomes 18, X and Y in 20 oligozoospermic men, 10 with sperm concentration of <5×10 6 sperm/ml and 10 with 5-20×10 6 sperm/ml. They found a significant increase in the frequency of XY disomy and diploidy for the group with severe oligozoospermia.…”