were X chromatin negative. None of the 3 females referred for suspected testicular feminisation syndrome 4 were X chromatin negative. Nine of the 10 females referred for suspected congenital adrenogenital hyperplasia were X chromatin positive.
Of the four syndromes in the study clinical suspicion has been useful in the detection in 90% of congenital adrenal hyperplasia in 40% of Turner and 22% of the Klinefelter cases. Clinical suspicion has not been helpful in the detection of the testicular feminisation syndrome.
Although only 22% of the Klinefelters were clinically diagnosed, all three phenotypic males with gyneacomastia were X chromatin positive. Gynaecomastia is important in screening for the Klinefelter syndrome. Only 40% of the Turners syndrome has been diagnosed on clinical suspicion. Two of the 3 phenotypic females referred for short stature were X chromatin negative.
A previous study has reported that the buccal smear test is not useful in screening for the Turner syndrome 8. The authors state that the difference in the techniques of preparation of the buccal smears and in interpretation may have also contributed to the findings in this study. Although the numbers are comparatively small in the present study the buccal smear has been very successful in screening for the Turner syndrome. Primary amenorrhoea is a cardinal sign in both Turner and Testicular
Feminisation syndromes. If these syndromes are not detected, clinically before puberty they will come to the attention of the clinician as primary amenorrhoea. In this study 144 phenotypic females were referred for primary amenorrhoea. Of these 21 (15%) were found to be X chromatin negative. These could have been either XO Turner or XY testicular feminisation syndrome. As mentioned earlier short stature is
invariably associated with the Turner syndrome. If the height had been recorded the 21 X chromatin negative phenotypic females could have been separated into the Turner and testicular feminisation syndromes.
In conclusion this study has demonstrated the use of X chromatin in oral mucosal cells to confirm the diagnosis of the Klinefelter, Turner, testicular feminisation and congenital adrenal hypoplasia syndromes. It highlights the importance of gynaeacomastia in screening for the Klinefelter syndrome, short stature in screening for the Turner syndrome and primary amenorrhoea in both Turner and testicular feminisation syndromes.
Acknowledgement: The technical help of Mr. H D A Molligoda of the Department of Anatomy is acknowledged.
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