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目的:报道98%无头精子1例并探讨其发生机制,旨为该类患者的诊治提供实验室依据。方法:对此例无头精子患者的睾丸曲细精管病理结构和精子超微结构进行分析;将20%、15%无头精子患者设为对照组,分别对3例无头精子患者的精子进行精子染色质扩散实验(sperm nucleus DNA integrity kit,SCD)合并精子荧光原位杂交技术(fluorescence in situ hybridization,FISH)检测。结果:无头精子患者睾丸曲细精管严重病变;在透射电子显微镜下可见到精子顶体、线粒体、轴丝等程度不同的结构异常:无头精子患者的精子染色体非整倍体率与精子核DNA损伤程度成正比,且随无头精子比例增多而升高。结论:无头精子有病理意义,其发生与精子DNA损伤、精子染色体异常以及编码头尾连接段的基因缺陷有关。
OBJECTIVE: To report 1 case of 98% headless spermatozoa and explore its mechanism, aiming to provide a laboratory basis for the diagnosis and treatment of such patients. Methods: The pathological structure of seminiferous tubules and the ultrastructure of spermatozoa were analyzed in this case without spermatozoa. 20% and 15% of patients without head sperm were selected as the control group. The sperm The sperm nucleus DNA integrity kit (SCD) combined with fluorescence in situ hybridization (FISH) was used for detection. Results: The testicular seminiferous tubules of patients without head sperm had severe lesions. Transmission electron microscopy showed abnormal structures such as sperm acrosome, mitochondria and axonal fibers. Sperm chromatin aneuploidy rate in patients without head sperm and sperm Nuclear DNA damage is proportional to the degree and increase with the increase of headless sperm ratio. Conclusion: Sperm without head has pathological significance. Its occurrence is related to sperm DNA damage, chromosomal abnormality of sperm and gene defect encoding the head-tail junction.