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Original Research

The genetic causes of infertility in patients with oligozoospermia and azoospermia in Turkish population


1  University of Health Sciences Bakirkoy Dr. Sadi Konuk Training and Research Hospital, Department of Urology, Istanbul, Turkey
2 University of Health Sciences Erzurum Training and Research Hospital, Department of Urology, Erzurum, Turkey
3 Medipol University, Department of Urology, Istanbul, Turkey
4 University of Health Sciences Bakirkoy Dr. Sadi Konuk Training and Research Hospital, Department of Medical Genetics, Istanbul, Turkey


DOI : 10.33719/yud.2021;16-2-834672
New J Urol. 2021;16(2):159-164

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


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