Department of Urology, Mount Sinai Medical Center, New York, NY 10128, USA.
Fertil Steril. 2010 Apr;93(6):1903-6. doi: 10.1016/j.fertnstert.2007.11.094. Epub 2010 Feb 12.
To define the prevalence of low-level sex chromosome mosaicism in a cohort of infertile men.
Prospective cohort study of infertile men.
Tertiary university infertility center.
PATIENT(S): One hundred one consecutive men who presented with primary infertility for evaluation.
INTERVENTION(S): Fluorescent in situ hybridization for X and Y was performed on 200 cells, and if an aberrant sex chromosome complement was noted, 400 cells were counted. For this study, any abnormality in sex chromosome complement was defined as micromosaicism.
MAIN OUTCOME MEASURE(S): Low-level sex chromosome mosaicism.
RESULT(S): Sixty-seven of these men (67%) had no mosaicism, and 34 men (34%) had micromosaicism. The median percentage of abnormal chromosomes in these men was 2%. The mean age of the men without micromosaicism was lower than for men with micromosaicism (31.1 years vs. 35.2 years). A trend toward higher FSH levels in men with low-level mosaicism was seen. Median sperm density and percent motility were higher in normal men. Percent normal morphology was identical between groups.
CONCLUSION(S): We found low-level sex chromosome mosaicism in 34% of infertile men who presented for evaluation. Men with low-level mosaicism were significantly older. Low-level mosaicism may emerge with advancing age and may therefore help to explain the decline in fertility potential seen in older men.
定义一组不育男性中低水平性染色体嵌合体的流行率。
对不育男性进行的前瞻性队列研究。
三级大学不孕中心。
101 名因原发性不育就诊评估的连续男性。
对 200 个细胞进行 X 和 Y 荧光原位杂交，如果发现异常性染色体组成，则计数 400 个细胞。对于本研究，任何性染色体组成异常都定义为微嵌合体。
低水平性染色体嵌合体。
这些男性中有 67 人（67%）没有嵌合体，34 人（34%）有微嵌合体。这些男性中异常染色体的中位数百分比为 2%。无微嵌合体男性的平均年龄低于有微嵌合体男性（31.1 岁 vs. 35.2 岁）。低水平嵌合体男性的 FSH 水平呈升高趋势。正常男性的精子密度和活力百分比较高。正常形态百分比在两组之间相同。
我们发现 34%的不育男性存在低水平性染色体嵌合体。低水平嵌合体男性年龄明显较大。低水平嵌合体可能随着年龄的增长而出现，因此可能有助于解释老年男性生育能力下降的原因。
