Presentation Authors: Chiung-Kun Huang*, Wei-Jen Chen, I-Shen Huang, Eric Yi-Hsiu Huang, William J.S. Huang, Taipei, Taiwan
Introduction: We aim to investigate the prevalence of chromosomal abnormalities, AZF microdeletions and partial AZFc deletions in male infertility patients, and also to determine clinical thresholds of semen parameters for positive genetic testing in infertile men.
Methods: We retrospectively analyzed infertile men who received karyotype and Y chromosome microdeletion analysis from 2006 to 2017. The correlation of semen analysis data, including sperm count, motility and morphology, and the findings of genetic testing were examined. Univariate logistic regression analysis was conducted to compare the semen parameters of those with or without genetic abnormalities (chromosome abnormalities, AZF microdeletions and partial AZFc deletions). Various different thresholds of seminal parameters were set (sperm concentrations: 0.1, 0.5, 1, 5 million/ml and motility: 10%, 20%, 30%, 40%, respectively) to evaluate the odds ratio for detection of genetic anomaly in infertile men.
Results: A total of 1222 infertile men were analyzed, including 767 azoospermic, 264 severe oligozoospermic, 85 oligozoospermic and 106 intermittent normozoospermic men. Of them, 206 (16.85%) were diagnosed chromosomal abnormalities; AZF microdeletions and partial AZFc deletions were noticed in 104 (8.51%) and 276 (22.58%) in our cohort. Chromosome abnormalities, AZF microdeletions and partial AZFc deletions were detected in 22.6%, 10.8% and 24.1% in azoospermic men. Sperm concentration and motility were both signiï¬cant predictors for the identiï¬cation of genetic abnormalities. Sperm concentration set at various specific level, 0.5, 1 and 5 million/ml, have the higher odds ratio to detect chromosome abnormalities (OR= 3.436, 95% CI 2.232~5.290, p < 0.001), AZF microdeletions (OR=13.324, 95% CI 4.195~42.316, p < 0.001), and partial AZFc deletions (OR=1.675, 95% CI 1.09~2.553, p=0.016). Sperm motility cut-off value at 20% have an odds ratio of 2.506 (95% CI 1.623~3.868, p=0.001) for prediction of chromosome abnormalities; cut-off value at 10% can predict the possibility of AZF microdeletions with an odds ratio of 5.356 (95% CI 2.575~11.14, p < 0.001). While sperm morphology did not show any significant differences across groups.
Conclusions: Infertile men with sperm concentration less than 0.5 million/ml or 1 million/ml should strongly be advised to undergo karyotype or AZF microdeletions analysis. Sperm motility less than 20% is associated with higher probability of chromosome abnormalities and sperm motility less than 10% shows higher probability of AZF microdeletions detection.