Chromosomal abnormalities in patients with oligozoospermia and non-obstructive azoospermia

Abstract

Purpose To assess the frequency and types of chromosomal abnormalities in 204 Ukrainian patients with non-obstructive azoospermia and oligozoospermia and 87 men with normozoospermia. Methods Cytogenetic studies were performed on peripheral blood lymphocyte samples of 164 men with oligozoospermia, 40 men with non-obstructive azoospermia and 87 men with normozoospermia attending infertility clinic. Results Chromosomal abnormalities were detected in 17 % of patients with sperm disorders: in 35 % of men with azoospermia and in 12.7 % of men with oligozoospermia. The frequency of chromosomal abnormalities in patients with sperm disorders was significantly higher, than in patients with normozoospermia (P=0.0001). An increase in the incidence of chromosomal abnormalities with the decrease of sperm count was observed. Chromosomal abnormalities were detected in 1.1 % of patients with normozoospermia, 6.5 % of patients with mild oligozoospermia (sperm count 5-15 ×10 6 /ml), 18.4 % of patients with severe oligozoospermia (sperm count <5 ×10 6 /ml) and 35 % of patients with azoospermia. A significant increase in the frequency of chromosomal abnormalities in patients with severe oligozoospermia was observed when compared to mild oligozoospermia (P=0.01). A statistically significant association (P= 0.02) of chromosomal abnormalities and sex chromosome abnormalities (P=0.0001) with azoospermia when compared to oligozoospermia was observed. Conclusions Our results highlight the importance of cytogenetic studies in patients with oligozoospermia (both mild and severe) and non-obstructive azoospermia. The presence of chromosomal abnormalities influences significantly the fertility treatment protocols, as well as provides a definite diagnosis to couples suffering from infertility.

The Frequency of Chromosomal Abnormalities and Y Chromosome Microdeletions in Infertile Non-Obstructive Azoospermic and Severe Oligozoospermic Males

“…while Dada et al [2] reported higher frequency (22.2%) by including only azoospermic and severe oligozoospermic (sperm count less than 5 million/ml). The higher frequency of chromosomal abnormalities in our NOA than SOZ men (22.6% versus 3.7%, respectively) was in agreement with the results of other studies suggesting that the prevalence of chromosomal abnormalities increases as the sperm count decreases [18,20,21,23,25,32,35,37] .…”

“…Several studies [4,20,28,31,33,38,39] reported similar result [4,20,28,31,33,38,39] . However, in other studies, the frequency of structural abnormalities was higher than numerical ones [18,32] . These differences might be due to ethnic differences, different patient selection criteria and methodological aspects.…”

Genetic screening and evaluation for chromosomal abnormalities of infertile males in Jilin Province, China

“…Karyotype abnormalities were identified in 7.2% of infertile males in Turkey (Cavkaytar et al, 2012) and the total prevalence of chromosomal abnormalities was found to be 4.3% (5/115) in Isparta (South of Turkey) (Kosar et al, 2010). Pylyp et al (2013) reported chromosomal abnormalities in 17% of Ukrainian patients with sperm disorders and Fu et al (2012) reported 11.55% of infertile Chinese men to have chromosomal abnormalities. The rate of chromosomal anomaly in men living in Central China was furthermore reported to be 6.84% (Liu et al, 2013) and abnormal chromosomal karyotypes were identified in 8.84% of infertile northeastern Chinese men and in 7.61% of male partners in Sichuan Province, China (Quan et al, 2013).…”

Correlation of genetic results with testicular histology, hormones and sperm retrieval in nonobstructive azoospermia patients with testis biopsy

“…In our present study, chromosomal alterations in the NOA men were 14.3%, which was higher than published data of the average level (8.2%) and the Indian average level (10.8%) (Akbari, Behjati, Pourmand, Asbagh, & Kachoui, ; Rao et al., ), and were lower than that in some Western countries (14.5%–26.3%) (Akbari et al., ; Akin, Onay, Turker, & Ozkinay, ; Frouzandeh, Saeideh, & Sanaz, ; Kate, Pokale, Jadhav, & Gangane, ; Mohammed et al., ; Rao et al., ). Such variability among different series is likely to be related to a dissimilar composition of the studied populations, mostly to the severity of male factor (Pylyp, Spinenko, Verhoglyad, & Zukin, ). Based on these observations, we proposed that the chromosomal alterations are important factors in male infertility in the Chinese population who underwent testicular biopsies.…”