精子缺乏症和精子减少症(AEO)在遗传上存在几种确定的形式:染色体异常、抗雄性激素综合征和减数分裂配对异常,也有导致各种可见的性分化异常的遗传紊乱。在动物中已知有一些引起雄性不育的基因。那些涉及结构重排的染色体异常和单基因紊乱,可能导致雄性不育的家族性复发。但据作者所知,目前还不能估计家族性发生的频率。为了解单基因紊乱产生AEO的作用,作者进行了实验研究以查明表型正常的AEO男性的兄弟中的不育症病例。 There are several genetically defined forms of sperm deficiency and spermatogenesis (AEO): chromosomal abnormalities, anti-androgen syndromes and meiotic pairing anomalies, as well as genetic disorders that lead to various visible abnormalities of sexual differentiation. Some genes causing male sterility are known in animals. Chromosomal abnormalities and single-gene disorders that involve structural rearrangements may lead to familial relapse of male infertility. However, to the author’s knowledge, the frequency of familial occurrence can not be estimated at present. To understand the role of single gene disorders in producing AEO, the authors conducted an experimental study to identify cases of infertility among siblings of a phenotypically normal AEO male.