精子纤维鞘发育不良的研究进展

Dysplasia of the fibrous sheath in human sperm: An update

人类精子鞭毛的超微结构异常将导致精子运动障碍。精子纤维鞘发育不良（DFS）是常染色体隐性遗传病,患者精液中精子95%-100%不活动,呈短、粗和不规则尾畸形。透射电镜见纤维鞘大量紊乱地围绕着不同程度变形的轴丝,无正常的纵柱和肋柱结构,或伴有中心微管及动力蛋白臂缺失。DFS遗传学病因尚未明确,透射电镜检查可以明确诊断。DFS不影响卵细胞胞质内单精子注射的受精率和临床妊娠率,但子代的遗传风险值得关注。

The ultrastructural abnormalities of human sperm flagella can cause sperm movement disorders. Dysplasia of the fibrous sheath（ DFS） is an autosomal recessive genetic disease. The affected sperm in 95- 100% of the patients display short,thick and irregular tails. Transmission electron microscopy can be used to confirm the diagnosis,which reveals gross abnormal flagella,with hypertrophy and hyperplasia of the fibrous sheath,without orderly disposition in longitudinal columns and transversal ribs. The axoneme shows variable distortion or almost complete obliteration. Microtubular doublets may exhibit partial or total lack of dynein arms. The genetic etiology of DFS is not yet clear. DFS does not affect the rates of fertilization and clinical pregnancy in ICSI,but due attention should be paid to the genetic risks in the offspring of the patient.