Genetic Anomalies Detected in Patients With Non-Obstructive Azoospermia and Oligozoospermia

Abstract

Genetic factors have a major importance in male infertility etiology. Numerical and structural chromosomal abnormalities seem to be frequent inoligospermia and azoospermia cases with unknown etiology. In this study, 819 patients with azoospermia (383) and oligospermia (436) who attended the infertility department between 1995-2005 were evaluated. Spermogram and basic hormone proties (FSH-testosterone) were studied two times in a one month interval from each patient, and all the cases were evaluated cytogenetically. The 47 (12%) of 383 azoospermia patients and the 20 (4%) of 436 oligospermia patients were found to have chromosomal abnormalities. The 9 (19%) of the chromosomal abnormalities found in azoospermia patients were autosomal and the 38 (80%) were gonosomal. In oligospermia cases, the 8 (40%) of the chromosomal abnormalities were autosomal and 12 (60%) were gonosomal. Cytogenetic analysis and genetic counseling would be helpful in infertile males with azoospermia and oligospermia by determining the genetic factors causing infertility and by assessing the genetic risks of the offsprigs provided by assisted reproductive techniques.

Cytogenetic abnormalities in 179 cases with male infertility in Western Region of Turkey: Report and review

“…Among gonosomal chromosomal anomalies 1.12% was structural and 2.68% was numerical whereas those values were 1.11% and 8.93% in our study. Comparison of our results with the review of the literature shows a relatively higher incidence of gonosomal, in particular, numerical gonosomal, chromosomal anomalies in our center which is similar to the literature reporting on Turkey [7,16]. Although our results reflect a regional pattern of those referrals, combined with the previous results from Turkey, further studies focusing on this issue may be suggested to clarify this relatively higher incidence.…”

“…Evaluation of 15 similar studies from the literature including a total of 9374 cases showed 6.54% chromosomal anomaly rate (Table 3) [5][6][7][8][9][10][11][12][13][14][15][16][17][18][19]. In our study 11.74% of all cases revealed chromosomal alteration including inv (9).…”

Chromosomal defects in infertile men with poor semen quality

“…Akgül et al found that chromosomal abnormalities were detected in 17.4% of 86 azoospermic cases and in 6.8% of 73 oligozoospermic cases in a regional study in Turkey [2]. Samli et al reported chromosomal abnormality in 47 (12%) of 383 non-obstructive azoospermia cases and in 20 (4%) of 436 oligospermic patients [34]. More recently, chromosomal abnormalities were detected in 5.4% of 92 azoospermic cases and no patients of 23 oligozoospermic cases [32] ( Table 4).…”

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

“…There are some other cytogenetic studies conducted on infertile patients from different part of Turkey [29][30][31]. Akgül et al have found that chromosomal abnormalities were detected in 17.4% of 86 azoospermic cases and 6.8% of 73 oligozoospermic cases revealed 11.7% of all cases in a regional study from Turkey.…”