[Sex chromatin in some deviations of normal sex].
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Cytosol and nuclear estrogen receptors and cytosol progesterone receptors were measured in 17 primary breast tumors and compared with sex chromatin frequencies. In cases with sex chromatin frequencies of greater than 20% there were 7/7 tumors with cytosol estrogen and progesterone receptors, 6/7 with cytosol and nuclear estrogen receptors, and 6/7 with all 3 receptors. This high proportion of receptor positive cases was not observed at lower sex chromatin frequencies. Sex chromatin frequencies in all the cytosol estrogen and progesterone receptor positive tumors were significantly higher (p less than 0.05) than in the other groups. Our results suggest a possible association between the presence of steroid hormone receptors and sex chromatin frequencies of greater than 20%.
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Female nuclei may be identified by means of sex chromatin. In general the number of sex chromatin bodies is one less than the number of X chromosomes. An exception to this rule is a case of sex chromatin-positive XO Turner's syndrome. This case suggests the possibility of sex chromatin-positive XY males, and it may be evidence for chromosomal differentiation.
The authors looked for the percentage od sex chromatin in benign (73 cases) and malignant (131 cases) female mammary tumors. The sex chromatin was present in at least 30% of nuclei in benign tumors. On the other hand, in malignant tumors, the sex chromatin was present in 4 to 30% of nuclei in 42 cases and over 30% of nuclei in 76 cases. We observed one or two sex chromatin in the same nuclei in 12 malignant tumors. No correlation was observed between the percentage of sex chromatin and other prognostic factors : TNM (tumor, nodes, and metastasis), histological grading, nodal involvement, hormonal status. The authors also observed the survival after radical treatment. Therefore, this may raise the question of the value of the test.
Sex chromatin frequency was investigated in nuclei from epithelial cells of the oral mucosa in 20 healthy, mature newborn females in the first 10 days of the neonatal period and compared with the hormonal state of the infant. From the analysis of the results obtained it was evident that sex chromatin incidence of the newborn female fluctuated in the neonatal period in values similar to those of healthy, nonpregnant woman. However, a specific correlation was disclosed between the alterations of the sex chromatin frequency and the hormonal crisis of the newborn infant.
The deoxyribonucleic acid (DNA) content of Feulgen-stained interphase nuclei from human amnion epithelium and liver parenchyma as well as the DNA content of their sex chromatin or heterochromatic bodies was determined histophotometrically. In female nuclei the ratio between the nuclear DNA content and that of their sex chromatin or heterochromatic bodies remains constant irrespective of the polyploid state of the nucleus. Thus, in polyploid nuclei the heterochromatic bodies double their DNA content with each duplication of the diploid nuclear DNA content. Therefore, it is assumed that the large or multiple heterochromatic bodies of female polyploid nuclei are conjugated or multiple sex chromatin bodies. Some male diploid nuclei show a distinct heterochromatic body whose DNA content is about one-half that of a sex chromatin. About one-half of the polyploid male nuclei have heterochromatic bodies whose DNA content is approximately one-half of those of female nuclei of the corresponding polyploid class. This would indicate that in male diploid nuclei the single X chromosome sometimes leaves a heterochromatic rest one-half the size of a sex chromatin and in polyploid male nuclei the two or more X's may leave larger heterochromatic bodies. However, many male nuclei, even when polyploid, do not have distinct heterochromatic bodies. Possibly the heterochromatic portions of the X's have failed to join and form a sex chromatin-like body; or the Y inhibits the X from leaving a heterochromatic rest. The proposal of other authors that the sex chromatin is derived from but one of the X chromosomes of the female nucleus, the X in the male leaving no heterochromatic rest, is also considered. The DNA content does not vary significantly between nuclei with and without sex chromatin or heterochromatic bodies. It remains clear that female nuclei with abnormally large or multiple sex chromatin bodies and male nuclei with large distinct heterochromatic bodies are always polyploid.
In a study of sex chromatin abnormality among Chinese psychiatric inpatients, buccal smears were examined from a total of 1,253 psychiatric inpatients (639 males and 614 females). One male psychiatric inpatient (1.6/1000) was chromatin positive (plus ve); two female psychiatric inpatients (3.3/1000) were found to have two sex chromatin bodies (less than e). The lower rate for male inpatients in comparison to Chinese schoolboys (i.3/1000) is thought to reflect a higher rate of mental subnormality in the primary schoolchildren. This is considered attributable to the special nature of the school system and psychiatric patient facilities in Taiwan. The higher rate for female inpatients in comparison with the schoolgirls (0.5/1000) tends to indicate a predisposition to mental disorder in favor of psychosis associated with double sex chromatin abnormality in the female.
To obtain an estimate of the rate of RNA synthesis by the heterochromatic sex chromatin body, human female fibroblasts were labeled with uridine-5-H(3) and radioautographed. The number of grains over the sex chromatin body was compared with the number of grains over a comparable area of euchromatin. The ratio was 0.37. When corrected for the higher content of DNA per unit area in heterochromatin, the maximum rate of RNA synthesis by the DNA of the sex chromatin body was approximately 18% of the rate of RNA synthesis by a comparable amount of euchromatin DNA. The rate of RNA synthesis by the sex chromatin body did not increase significantly with partial despiralization of this chromatin at prophase.
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Forty women between 17 and 23 weeks' gestation were included in the study, whose interruption of pregnancy was performed by medical and social indications. The method of Aburel-Atanasov was used as in 10 ml of the removed amniotic fluid sex chromatin was examined cytologically on cellular smears. Staining and determination of sex chromatin was made by the method of Dokumov. The fetus of male sex, when there was no sex chromatin, but the sex was female, when it was present in various percentage of cells. The genuine sex of the fetus was determined after interruption of pregnancy. Coincidence of cytological and genuine sex of the fetus was found in 36 cases (92.31%), but the sex was determined not exactly in 3 cases (7.69%). There was no sufficient material for preparation of high-grade cytological smears in one case. 14 out of 40 fetuses were of female sex (with sex chromatin in 28.57% of cells on the average) and 25 of male sex. The significance and advantages of the method in comparison with other methods for determination of fetal sex at the same term of pregnancy are discussed.
The left lateral lobes were surgically removed from livers of female rats. The number of cells containing sex chromatin bodies was counted in the surgically removed lobes and compared with counts from the remaining lobes removed at various intervals after the operation. The proportion of cells showing positive sex chromatin was found to decrease to nearly one-half the initial preoperative value by four days after partial hepatectomy. Sex chromatin frequency returned to near preoperative levels by 21 days. A 3H-thymidine autoradiography showed that the number of cells in the S-phase was less than 5 percent at the postoperative time when sex chromatin frequency was lowest, thus ruling out the possibility that the decreased numbers of sex chromatin positive cells was related to genome replication. These data show that condensation of the late-replicating, and, presumably, inactive X-chromosome is not permanent, a fact that may relate to X-inactivation observed in embryogenesis.
The preparation and the utility of oral mucosa and hair root sheaths for quantitative sex chromatin studies is discussed. In buccal smears requirements for reliable scoring are frequently not fulfilled. Counting is time-consuming and disturbing measurement errors cannot be avoided. On the other hand, hair root sheath slides can be quickly prepared, the method yields preparations of good quality, and sex chromatin is displayed with considerable clarity. This procedure thus provides a high degree of accuracy and simplicity and counting can be quickly done with a relatively small measurement error. The incidence of sex chromatin in hair nuclei is observed to be about 20 per cent higher than in oral mucosa of the same female. In hair root sheaths non-peripheral sex chromatin can easily be recognized; including these into the scores significantly increases the actual incidence of sex chromatin positive nuclei.
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