Department of Biomedical Sciences, Applied Biology Section, Interdepartmental Center for Research and Therapy of Male Infertility, University of Siena, Siena, Italy.
Fertil Steril. 2011 Apr;95(5):1787.e19-23. doi: 10.1016/j.fertnstert.2010.11.027. Epub 2010 Dec 8.
To characterize the association of two systematic sperm defects.
Case report.
University, Interdepartmental Centre for Research and Therapy of Male Infertility.
PATIENT(S): Patient 1, 42 years old, and patient 2, 38 years old, both with severe asthenozoospermia.
INTERVENTION(S): Family history, physical examination, hormonal analysis, microbial assays, semen analysis, transmission and scanning electron microscopy, immunocytochemistry for tubulin, and fluorescence in situ hybridization (FISH) for chromosomes 18, X, and Y.
MAIN OUTCOME MEASURE(S): Admixture of dysplasia of the fibrous sheath (DFS) and head-tail misalignment up to acephalic sperm detected by microscopic methods.
RESULT(S): In both patients, DFS was present in incomplete form and was associated with acephalic sperm and abnormal head-tail attachment. In patient 2, spermatozoa were also affected by necrosis that may cause fragmentation leading to short flagella; submicroscopic examination allowed defining only the origin of these "stumpy" tails. Immunofluorescence confirmed the sperm alterations. FISH revealed an altered frequency of diploidy and disomy in patient 2 and a slight increase in diploidy in patient 1.
CONCLUSION(S): The importance of ultrastructural sperm evaluation for correct identification of sperm pathologies is evident, particularly regarding assisted reproduction technology and genetic risk assessment.
描述两种系统性精子缺陷的相关性。
病例报告。
大学，男性不育症跨部门研究与治疗中心。
患者 1，42 岁，患者 2，38 岁，均患有严重的弱精子症。
家族史、体格检查、激素分析、微生物检测、精液分析、透射和扫描电子显微镜检查、微管免疫细胞化学和染色体 18、X、Y 的荧光原位杂交（FISH）。
通过显微镜方法检测到纤维鞘发育不良（DFS）和头-尾错位的混合，甚至出现无头精子。
在两名患者中，DFS 均以不完全形式存在，与无头精子和异常的头-尾连接有关。在患者 2 中，精子还受到可能导致碎片化的坏死的影响，从而导致短鞭毛；亚微观检查仅能确定这些“短粗”尾巴的起源。免疫荧光证实了精子的改变。FISH 显示患者 2 的二倍体和三体的频率发生改变，患者 1 的二倍体略有增加。
对于正确识别精子病变，超微结构精子评估的重要性显而易见，尤其是在辅助生殖技术和遗传风险评估方面。
