Chromosomal abnormalities and clinical conditions associated with the male infertility among Emirati: 10-year retrospective research study

Abstract

Background: Male infertility is a global health issue that is poorly described in United Arab Emirates. Methods: In this 10-year retrospective cross-sectional study, we retrieved data of 312 male patients attending Dubai Fertility Center in United Arab Emirates between January 2011 and January 2021. We identified the type and prevalence of chromosomal abnormalities and hormonal and semen abnormalities among Emirati infertile males as compared with regional and global populations. Results: Total chromosomal abnormalities accounted for 13.9% and 8% among azoospermic Emiratis and total Emirati infertile males, respectively. Numerical chromosomal abnormalities causing male infertility were Klinefelter syndrome, 47,XXY (4.0%); Jacob syndrome, 47,XYY (0.8%); mosaic, 48,XXXY/47,XXY/46,XY (0.4%); and mosaic 47,XXY/46,XY (0.4%). Structural chromosomal abnormalities causing male infertility were Y chromosome microdeletion (1.2%), 46,XX/46,XY (0.4%), 46,XY,inv(5)(p15.1q11.2) (0.4%), and 45,XY,der(13;15)(q10;q10) (0.4%). About 59.0% of the Emirati cohort had azoospermia, whereas 28.46% were diagnosed with other conditions of spermatogenic failure as severe oligoasthenoteratozoospermia (7.63%), severe oligoasthenospermia (5.22%), severe oligozoospermia (4.41%), oligoasthenoteratozoospermia (3.6%), asthenozoospermia (2.4%), oligoasthenospermia (1.6%), oligozoospermia (2%), teratozoospermia (0.8%), asthenoteratozoospermia (0.4%), and aspermia (0.4%). As for male hormonal profile of the Emiratis, azoospermic males with chromosomal defects had higher testosterone abnormality (72.2% vs. 45.4%), interstitial-cell stimulating hormone abnormality (66.6% vs. 42.6%), follicle-stimulating hormone abnormality (72.2% vs. 41.5%), and inhibin B hormone abnormality (100% vs. 83.8%) as compared to azoospermic males without chromosomal abnormalities. Conclusion: This is the first study to report conclusively the profiling of chromosomal abnormality among Emirati infertile males, which falls within the regional and global range, and to highlight the critical role of genetic testing and counseling for evaluating male infertility.