Objective: Advances in the science of genet-ics and the development of assisted reproductive techniques focus on the genetic causes of infer-tility. The aim of this research is to reveal genetic abnormalities in terms of sex chromosome aneu-ploidy and Y chromosome microdeletions.
Material and Methods: A total of 350 patients with azoospermia or severe oligozoospermia were selected. After general examination of the patients and laboratory investigations were performed, cartoypes and Y chromosome microdeletions were examined.
Results: A total of 225 infertile men with non-obstructive azoospermia (NOA) and 125 in-fertile men with oligozoospermia were enrolled into the study. The overall cytogenetic anomaly rate was 16%. Chromosomal changes were detected in 32 of 350 (9.1%) cases. The most common genetic anomaly was 47, XXY (Klinefelter syndrome) and the incidence was 11.5% in NOA group. This rate was 3.2% in oligozoospermia group. Y chromosome microdeletions were detected in 24 (6.8%) patients and similarly, it was observed more frequently in the NOA group than in the oligozoospermia group.
Conclusion: The incidence of genetic causes have been increasing with the severity of infertil-ity. As a result, genetic screening and appropriate genetic counseling are needed before the use of assisted reproductive techniques.
Keywords: azospermia, chromosome, infer-tility, microdeletion, oligozoospermiaage
ABSTRACT
Objective: Advances in the science of genet-ics and the development of assisted reproductive techniques focus on the genetic causes of infer-tility. The aim of this research is to reveal genetic abnormalities in terms of sex chromosome aneu-ploidy and Y chromosome microdeletions.
Material and Methods: A total of 350 patients with azoospermia or severe oligozoospermia were selected. After general examination of the patients and laboratory investigations were performed, cartoypes and Y chromosome microdeletions were examined.
Results: A total of 225 infertile men with non-obstructive azoospermia (NOA) and 125 in-fertile men with oligozoospermia were enrolled into the study. The overall cytogenetic anomaly rate was 16%. Chromosomal changes were detected in 32 of 350 (9.1%) cases. The most common genetic anomaly was 47, XXY (Klinefelter syndrome) and the incidence was 11.5% in NOA group. This rate was 3.2% in oligozoospermia group. Y chromosome microdeletions were detected in 24 (6.8%) patients and similarly, it was observed more frequently in the NOA group than in the oligozoospermia group.
Conclusion: The incidence of genetic causes have been increasing with the severity of infertil-ity. As a result, genetic screening and appropriate genetic counseling are needed before the use of assisted reproductive techniques.
Keywords: azospermia, chromosome, infer-tility, microdeletion, oligozoospermiaage