Prevalence of Y-chromosomal microdeletions and karyotype abnormalities in a cohort of Lebanese infertile men

Abstract

Background: Male infertility is the main issue that accounts for 50% of infertility in couples. There are about 25% of men suffering from nonobstructive infertility with chromosomal abnormalities and/or microdeletions of the long arm of the Y-chromosome. Materials and Methods: A retrospective chart review was performed on 241 men who performed Y-chromosome microdeletions and karyotype testing. Results: Six patients had microdeletions. Three patients had AZFc microdeletion, of which one had both AZFc/d microdeletions. Three patients had AZFb/c microdeletion. There was no AZFa microdeletion. One out of the six patients had abnormal karyotype (mos, X[17]/46, XY[13]). Four patients were azoospermic, two had severe oligospermia, with sperm count <5 million/ml, and two patients had small size testicles on ultrasound. All were advised microsurgical testicular sperm extraction. Three were done, and one was successful resulting in sperm retrieval. The most common karyotype abnormalities were 47, XXY (Klinefelter syndrome) in 27% of cases. Conclusion: Laboratory genetic testing is advised for males with nonobstructive infertility. Any abnormal finding can yield substantial consequences to assisted reproductive techniques or fertility treatment. It can offer a stable diagnosis for those with infertility issues. It is important to conduct counseling and routine genetic testing before assisted reproductive techniques. © 2022 Urology Annals | Published by Wolters Kluwer-Medknow.