Exploring the relationship between the severity of oligozoospermia and the frequencies of sperm chromosome aneuploidies

Abstract

The study was aimed to investigate the association between the degree of oligozoospermia and sperm chromosome aneuploidy frequencies in male infertility and to determine whether chromosomal profiles of sperm nuclei would be used for a supportive test before additive reproduction technics. The meiotic segregation profiles of chromosomes X, Y, 13, 18 and 21 were compared by fluorescent in-situ hybridisation (FISH) on the spermatozoa of 30 normally karyotyped oligozoospermic (10 mild, 11 moderate, nine severe) cases without Y-microdeletions, and 10 normozoospermic cases. The results showed significantly higher frequencies of chromosomes 13, 18, 21 disomies (P < 0.001) in the group of patients with moderate and severe oligozoospermia compared with the disomy frequencies of normozoospermic group. The statistically significant differences were also determined in disomy frequencies of sex chromosomes (XY, XX and YY) in between oligozoospermic and normozoospermic groups (P < 0.001, P < 0.001, P < 0.040, respectively). Because oligozoospermic patients are the ones consulted the most for assisted reproductive techniques, identification of sperm aneuploidy rates in men could be considered as an appropriate supportive test before the reproductive implementations. Furthermore, the patients should be counselled with respect to genetic screening results for the potential risk of aneuploid embryo and pre-implantation genetic diagnosis or prenatal diagnosis.

Investigation of sperm telomere length as a potential marker of paternal genome integrity and semen quality

“…the higher the incidence of morphologically abnormal forms the greater the rate of aneuploidy) (Carrell et al, 2004;Vegetti et al, 2000). In line with published data, our results show a negative correlation between sperm count and aneuploidy rate and also a higher incidence of chromosome abnormality in oligozoospermic men when compared with those with normozoospermia (Durak Aras et al, 2012;Fes'kov et al, 2013;Omran et al, 2013). Additionally, an inverse correlation between aneuploidy rate and sperm motility has also been demonstrated (Levron et al, 2013).…”

Chromosomal abnormalities in products of conception of first-trimester miscarriages detected by conventional cytogenetic analysis: a review of 1000 cases

“…This finding could be correlated to gamete and embryo selection in IVF programs that possibly leads to the reduction of pregnancies with ploidy changes. On the other hand, what should not be also excluded is that there is a possible increased risk of ploidy changes of embryos in IVF-ICSI programs due to increased diploidy rates in sperm of patients with oligoasthenoteratozoospermia who are direct candidates for ICSI [39,40] or post-zygotic nondisjunction due to embryo culture in vitro and others. Therefore, our finding of a tendency towards increase of polyploidy in the group of miscarriages after natural conception needs to be further investigated by appropriately designed studies.…”

Sperm aneuploidy in infertile male patients: a systematic review of the literature

“…When abnormal results are obtained, individuals should be identified as at risk and personalised reproductive counselling should be provided regarding their potential risk of producing an aneuploid embryo. Such individuals should be presented with all of the necessary information regarding prenatal diagnosis after spontaneous or assisted conception, pre‐implantation genetic diagnosis, adoption and donor sperm (Hwang et al ., ; Durak Aras et al ., ).…”

“…() reported a 2‐ to 3‐fold increase in sex chromosome disomy and disomy of chromosome 21, as well as a 3‐fold elevation of diploidy in oligospermic males compared with control donors. Severe oligospermia was more strongly correlated with increases in aneuploidy (Mougou‐Zerelli et al ., ; Durak Aras et al ., ), whereas significantly elevated aneuploidy rates have been reported in the testicular sperm of patients with nonobstructive azoospermia (Sun et al ., ; Rodrigo et al ., ; Vozdova et al ., ); these findings indicate a dramatic increase in the frequency of meiotic errors (Gonsalves et al ., ) in these patients. Data from the study conducted by Rodrigo et al .…”