1969 年 60 巻 4 号 p. 279-285
Recently we encountered a male bearing a XX sex chromosome constitution. The patient is a 25-year-old unmarried male. He complained of loss of sexual potency. He is 154cm in height and 50Kg in weight. No gynecomastia was noted. There were no webbed neck and no cubitus valgus. The external genitalia appeared normal in size. A small testis measuring 2×1.5×1.5cm was felt in both scrotal sacs. An exploratory laparotomy failed to reveal any female internal sexual organs. No urogenital sinus was detected. Histology of both testes showed no spermatogenesis. The basement membrane of seminiferous tubules showed hyalinization. In interstitial tissue, clusters of Leydig cells were observed.
Sex chromatin was positive in cells of buccal mucosa smears. Chromosomal analysis was performed in peripheral blood, skin and testis. The majority of cells are found to contain 46 chromosomes including a pair of apparently normal XX sex chromosomes in these three tissues. It was concluded that, this patient, although phenotype is a male, has normal female karyotype.