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不孕症指夫妇同居生活两年、未避孕而未怀孕者。大约15%育龄夫妇患不孕症,其中男性因素占一半。造成男性不育的因素很多,比如内分泌、感染、生殖器畸形、免疫、遗传等原因,然而多半男性不育症患者找不到明确原因,我们称之为特发性男性不育症。生精障碍是男性不育的主要原因,多数男性不育症患者最初通过精液常规检查被确诊。精液常规检查可发现多种异常,比如无精子症、少精子症、弱精子症、畸精子症、死精症以及脓精症等,大约30%前来遗传咨询的男性不育患者患有特发性无精子或少精子症。已确定与特发性无精子症或少精子症有关的遗传异常包括染色体异常、精子mtDNA突变、单基因遗传病、多基因遗传病以及遗传因素引起的内分泌异常等,本文就特发性男性不育症的以上遗传学因素作一综述。
Infertility refers to couple living together for two years, not contraception and not pregnant. About 15% of couples of childbearing age suffer from infertility, of which male factors account for half. Male infertility caused by many factors, such as endocrine, infection, genital malformations, immune, genetic and other reasons, however, most male infertility patients can not find a clear reason, we call it idiopathic male infertility. Spermatogenic disorders are the main cause of male infertility, most of the male infertility patients initially diagnosed by sperm routine examination. Semen routine examination can be found in a variety of abnormalities, such as azoospermia, oligozoospermia, asthenospermia, oligozoospermia, spermatogenesis, and purulence, about 30% of male infertility patients who come to genetic counseling suffering from special Azoospermia or oligospermia. Genetic abnormalities that have been identified as associated with idiopathic azoospermia or oligozoospermia include chromosomal abnormalities, sperm mtDNA mutations, single-gene genetic diseases, polygenic genetic diseases, and endocrine abnormalities caused by genetic factors. In this paper, idiopathic male The above genetic factors of fertility are reviewed.