- Prospective assessment of Y-chromosome microdeletions and reproductive outcomes among infertile couples of Japanese and African origin

Of 162 azoospermic and oligozoospermic Japanese and African males who participated in the study, 47 were diagnosed with NOA and 115 as oligozoospermic. Of 47 NOA cases, 26 were Japanese and 21 were Africans. Of 115 oligozoospermic cases, 87 were Japanese and 28 were African. We identified seven cases with microdeletions and they were all within the azoospermia and oligozoospermia Japanese group. Five of these deletions were identified in the AZFc region, whereas only one deletion was identified in the AZFa region. There was also one complete deletion involving all three regions of AZF (AZFa, b, c). Therefore, the microdeletion frequency within the Japanese group was 6.2% (95% CI, 4.25% – 14.45%). No deletions were identified within the African group (95% CI, 0.0% – 7.27%); this difference was not statistically significant. The deletion frequency among azoospermic Japanese males was 15.4% (95% CI, 11.0% – 42.0%) whereas there were none among the African males (95%CI, 0.0% – 15.4%). Again, the difference did not reach statistical significance. The deletion frequency in oligozoospermic Japanese was 3.4% (95% CI, 1.18% – 9.6%) and there were none in oligozoospermic African males (95% CI, 0.0% – 12.0%); also with no statistical difference.

Two patients were diagnosed with SCOS and both exhibited one microdeletion in the AZFa and AZFabc regions. (Table 2). These two patients had characteristically high serum FSH levels (mean = 30.4 U/L, normal is

Table 3 summarizes comparisons among various parameters in patients with and without Y-chromosome microdeletion. As expected, sperm concentration was significantly lower in the Y-chromosome microdeletion group than in the intact Y-chromosome group (p

Table 4 presents a comparison of embryo characteristics observed in AZFc microdeletion and Y-chromosome intact patients. Although the Y-chromosome microdeletion group showed a trend towards reduced rates of fertilization, implantation, and pregnancy when compared to the Y-chromosome intact group, this difference did not reach statistical significance. Screening for Y-chromosome microdeletions among our study patients' male offspring was not conducted in this investigation.

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