Mendez H M, Breda D J, Souto C A, Salzano F M
J Genet Hum. 1982 Mar;30(1):5-16.
A total of 198 patients has been investigated from the genetic and cytogenetic points of view. Chromosomal aberrations were probably responsible for 8 and genic causes for 11 of the 24 cases of intersexuality. Among 96 infertile males the prevalence of abnormal karyotypes was significantly higher in azoospermic (34%) as compared to oligospermic (9%) individuals. However, if persons with hypogonadism or Klinefelter's signs are not considered, the frequency of abnormal karyotypes decreases and the difference between azoospermic and oligospermic men becomes non-significant (19% and 7%, respectively). Genic factors may be the cause of sterility in about one-fourth of these males. Chromosome causes were identified in 29 and abnormal genes postulated in 9 of the 78 sterile females. Among the more rare karyotypes found, the following were considered in more detail: 45,X/46,X,i (Yp) (observed among the intersex patients); 46,X,r (Y), and 46,XY,t(2;8) (2p12 leads to pter::8 pter) (both found among the infertile males). Y/F ratios were calculated for 47 azoospermic, 40 oligospermic and 30 control individuals; the differences between their means were statistically non-significant.
从遗传学和细胞遗传学角度对总共198例患者进行了研究。在24例两性畸形病例中，染色体畸变可能是8例的病因，基因因素是11例的病因。在96例不育男性中，无精子症患者（34%）异常核型的患病率显著高于少精子症患者（9%）。然而，如果不考虑性腺功能减退或克兰费尔特综合征体征的患者，异常核型的频率会降低，无精子症和少精子症男性之间的差异变得不显著（分别为19%和7%）。基因因素可能是这些男性中约四分之一不育的原因。在78例不育女性中，29例确定为染色体病因，9例推测为异常基因所致。在发现的较为罕见的核型中，对以下核型进行了更详细的研究：45,X/46,X,i(Yp)（在两性畸形患者中观察到）；46,X,r(Y)和46,XY,t(2;8)(2p12导致pter::8 pter)（均在不育男性中发现）。对47例无精子症患者、40例少精子症患者和30例对照个体计算了Y/F比值；它们均值之间的差异无统计学意义。
