Meschede D, Horst J
Institute of Human Genetics of the University, Münster, Germany.
Mol Hum Reprod. 1997 May;3(5):419-30. doi: 10.1093/molehr/3.5.419.
The important role of genetic abnormalities in the causation of human male infertility is increasingly recognized. While much remains to be learned in this fast moving field, considerable progress has been achieved over the past years both in the clinical delineation of genetic forms of male infertility and in the characterization of the responsible genes and their mutations. We review the current state of knowledge on monogenic disorders where male infertility is a major and regular feature. Clinical and molecular details are given on a total of seventeen such entities. We restrict our survey to disorders that may actually come to the clinical attention of the reproductive medicine specialist.
遗传异常在人类男性不育病因中的重要作用日益受到认可。尽管在这个快速发展的领域仍有许多有待了解的地方，但在过去几年里，无论是在男性不育遗传形式的临床描述方面，还是在相关基因及其突变的特征描述方面，都取得了相当大的进展。我们回顾了关于单基因疾病的当前知识状态，在这些疾病中男性不育是主要且常见的特征。总共十七种此类疾病的临床和分子细节都有给出。我们将调查范围限制在可能实际引起生殖医学专家临床关注的疾病上。
