Genetic and cytogenetic studies in patients with intersexuality or infertility

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.