In the phenotypic males 4 of the 22 referred for suspected Klinefelter syndrome were X chromatin positive. All 3 males referred for gynaecomastia were X chromatin negative. In the 14 phenotypic females with suspected Turner 4 were X chromatin negative. Two of the 3 females referred for short stature were X chromatin negative. None of the 3 females referred for suspected testicular feminisation syndrome were X chromatin negative. Twenty one of the 144 females referred for primary amenorrhea were X chromatin negative.

This study demonstrates the use of a simple laboratory test to confirm the diagnosis in referrals suspected of having the Klinefelter, Turner, testicular feminisation and congenital adrenal hyperplasia syndromes. Twenty five referrals were phenotypic males and 201 were phenotypic females. Of the 22 phenotypic males referred for suspected Klinifelter syndrome 18 were X chromatin negative. Of the 18 phenotypic females referred for suspected Turner syndrome