SEX DIFFERENCES IN HUMAN NUCLEI WITH PARTICULAR REFERENCE TO THE »KLINEFELTER SYNDROME«, GONADAL AGENESIS AND OTHER TYPES OF HERMAPHRODITISM

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Abstract
The nuclear pattern test for diagnosis of sex was applied to skin biopsies and buccal smears. In this test the percentage of nuclei with characteristic chromatin masses in juxta position with a nuclear membrane was quite low for males (range 0-12%) while the range for females was 20-82%. The buccal smears characteristically gave somewhat lower values than the skin biopsies. This test was applied to a large number of cases in which the sex of the individual was in question. Fifty-three girls and 3 boys with the diagnosis of congenital adrenal hyperplasia showed nuclear patterns in agreement with the gonadal sex of the individual. In some of the girls, the external genitalia were so modified that they had been reared as boys. In 103 cases of gonadal agenesis, 87 showed the male nuclear pattern and 16 the female pattern. On the basis of testicular biopsies, 62 cases of Klinefelter syndrome were classified into true and false Klinefelter syndrome. The nuclear pattern in the former (49 cases) was female and in the latter male. It was proposed that the term "female pseudohermaphrodites with gonadal dysgenesis" be used for the former and the term "early testicular atrophy due to tubular fibrosis" be used for the latter syndrome. The nuclear pattern in 11 cases of functional prepuberal castrates was male. In 3 cases of true hemaphroditism, 2 showed the female pattern, 1 the male. Thirteen cases of women with testes (male pseudohermaphroditism) had a male nuclear pattern. In 31 newborn infants with severe defects of the external genitalia, the nuclear patterns agreed with the clinically estimated sex in 23 cases. Without exception the nuclear pattern was in agreement with the type of gonads in each case when laparotomy was performed.