不孕不育影响着约10%～15%的夫妇，其中男性因素约占一半。精子发生障碍是男性不育的主要病因，主要表现为无精子症或少弱精子症。大量研究已经确定Y染色体及Yq微缺失与男性不育的相关性。X染色体因其在男性仅有单拷贝而在精子生成过程中表达特殊，对精子发生障碍有重要意义。对畸精子症和弱精子症患者的研究表明，位于常染色体的4个基因（SPATA16，PICK1，CATSPER和AURKC）可能与精子发生障碍有关。虽然经全球范围的努力，预期在不久的将来可提供新的基因检测技术来检测精子发生障碍的遗传学原因，但目前可用于精子发生障碍的基因测试仍然有限。%Approximately 10%-15% of couples are infertile, while male infertility is almost half of all infertility. Spermatogenic failure is a major cause of male infertility, which shows azoospermia or oligozoospermia. Studies showed that Y chromosome plays an important role in spermatogenesis, and that Yq microdeletions are related to male infertility. X chromosome, as a single copy and unique expression in male, also plays an important role in spermatogenesis. Studies on teratozoospermia and asthenozoospermia showed that four genes located on autosomal chromosomes(SPATA16, PICK1,CATSPER and AURKC) probably involved in spermatogenic failure. In future, more and more new genetic tests will be developed and used in the clinical practice of spermatogenic failure, with the worldwide efforts.
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