- 社団法人 日本泌尿器科学会
- 日本泌尿器科學會雑誌 (ISSN:00215287)
- vol.56, no.11, pp.1209-1224, 1965-11-20 (Released:2010-07-23)
1) Seventy-nine cases of congenital sexual abnormalities have been experienced in recent six years (1958-1964).They are 15 cases of female pseudohermaphroditism, 13 male pseudohermaphroditism, 5 true hermaphroditism, 7 gonadal dysgenesis, 4 agonadism, 14 hypergonadotrophic testicular dysgenesis and 21 hypogonadotrophic testicular dysgenesis. Cytogenetical study was made in these patients as well as in normal adult males and females, and patients with hypospadia, cryptorchdism, vaginal defect and hymenal atresia.2) The nuclear chromatin was determined on buccal smears of these patients by the rapid staining method devised by the author.Advantages of this method are ease in securing suitable cells and rapidity and simplicity in preparation. Therefore, it is used in massexamination or screening test for the various sexual abnormalities.3) Chromosomal counts and karyotyping were carried out by the short term method of Moorhead et al. on cultured leucocytes, and the chromosomes were prepared by the air drying method and arranged in seven groups according to their length and centromere position.The classification is a slight modification of the international system of nomenclature of human mitotic chromosomes adopted in 1960 in Denver, Colorado.4) The phenotypic males with hromatin-negative nuclei are revealed in all cases of male pseudo-hermaphroditism, 3 of gonadal dysgenesis, 7 of hypergonadotrophic testicular dysgenesis and in all 21 cases of hypogonadotrophic testicular dysgenesis. The phenotypic females with chromatin-negative nuclei are revealed in 4 cases of gonadal dysgneesis, 4 of agonadism and one of true hermaphroditism, and the phenotypic males with chromatin-positive nuclei are revealed in 3 cases of ture hermaphroditism and 7 of hypergonadotrophic testicular dysgenesis. The phenotypic females with chromatin-positive nuclei are revealed in 15 cases of female pseudohermaphroditism and one of true hermaphroditism.5) Five cases of true hermaphroditism, 6 of gonadal dysgenesis, one of agonadism and 7 of hypergonadotrophic testicular dysgenesis showed abnormal sex karyotype: that is, 4 cases of phenotypic female gonadal dysgenesis and a 45/XO chromosomal constitution. Four cases of true hermaphroditism had the basic diploid number of 46 and an XX sex chromosome constitution and one had a 46/XY. Two cases of the phenotypic male gonadal dysgenesis showed a sex-chromosome mosaicism, which had a 46, 45/XY, XO. Agonadism had a 45/XO chromosomal constitution, and 7 cases of hypergonadotrophic testicular dysgenesis had a 47/XXY.This type of 46, 45/XY, XO mosaicism has not previously been reported.6) The correlation of sex-chromatin patterns and sex chromosome constitution was discussed, hypothetical mechanisms involved in the pathogenesis of abnormal sexual development are reviewed, and the role of chromosomes in human sexual development is briefly discussed.