|E. R. Wikramanayake|
|we re 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.
1. Moore, KL, Barr, ML : Smears from the oral mucosa in detection of chromosomoal sex. Lancet 1955; 2: 57-58
2. Ferguson Smith , MA : Chromatin positive Klinefelters syndrome (primary micro orchidism) in a mental deficiency hospital. Lancet 1958; 2: 928
3. Ford, CE , Polani , PE , Jones, KW , de Almeida, JC Briggs JH: A sex chromosome anomaly in a case of gonadal dysgenesis. Lancet 1959; 1: 711 713.
4. Morris, JM : The syndrome of testicular feminisation in male pseudohermaphrodites. Am. J. Obstet Gynaecol. 1953; 65: 1192
5. Childs B, Grumbach, MM, Van Wyk JJ: Virilising adrenal hyperplasia a genetic and hormonal study. J. Clin. Invest 1956; 35: 213.