Cytogenetic abnormalities detected in patients with non-obstructive azoospermia and severe oligozoospermia

Abstract

Purpose To find the frequency and types of major chromosomal abnormalities with nonobstructive azoospermia and severe oligozoospermia to give appropriate genetic counseling before assisted reproduction techniques in Isparta (South of Turkey), and to investigate the general characteristics in this infertile male population. Methods and patients A total of 115 infertile males (92 were azoospermic, 23 severe oligospermic) were studied for the cytogenetic evaluation prior to use of assisted reproduction techniques. Also, 60 fertile males as a control group were studied. Karyotyping was performed on peripheral blood lymphocytes according to the standard methods. Levels of luteinising hormone, follicle-stimulating hormone (FSH), testosterone and prolactin were obtained and a testicular sonography examination was conducted. Results The total prevalence of chromosomal abnormalities was found to be 4.3% (5/115), including 4 patients with Klinefelter's Syndrome and 1 patient with gonadal dysygenesis (46XX). All of them were azoospermic males, corresponding to a frequency of 5.4% (5/92 patients). Oligozoospermic males and control males had no chromosomal abnormalities. There was a significant difference in serum FSH, LH, mean testicular volume and smoking when comparing patients (both azoospermic and oligozoospermic) and control groups (p<0.05). Also, there was a significant difference in serum FSH, LH and mean testicular volume when compared with azoospermic and oligozoospermic patients (p<0.05) Conclusions The occurrence of chromosomal abnormalities among infertile males strongly suggests the need for routine genetic testing and counseling prior to the employment of assisted reproduction techniques.

Chromosomal abnormalities in men with pregestational and gestational infertility in northeast China

“…These findings are in accordance with previous reports where focal spermatogenesis failure and severe OS were found in cases with 46,XY(X)/47,XXY mosaic karyotypes [15]. The current study further supports the theory that a superabundance of X chromosomes could affect the male-determining function by inhibiting maturity, hence promoting degenerative changes in the testis convoluted tubule and thus affecting spermatogenesis, ultimately resulting in varying degrees of related androgen dysfunctions [13]. Y chromosome aneuploidies in patients in this study included 47,XYY (5 cases), 45,X/46,XY (6 cases), 45,X/46,XY, Yp+(1 case).…”

Sperm parameters and DNA fragmentation of balanced chromosomal rearrangements carriers

“…Probability of detecting a chromosomal rearrangements in a patient's karyotype is negatively correlated to the sperm concentration [14][15][16][17]. Indeed, in this study, we observed lowered sperm concentration in the RT carrier group, but not in the RCT group in comparison to the control subjects.…”

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

“…Various numerical and structural chromosome abnormalities were identified in 19.48% of infertile Tunisian men with poor semen quality (Ghorbel et al, 2012) and chromosome analysis revealed major chromosome abnormalities in 10.2% of infertile men in the Indian population (Kate et al, 2014). 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.…”