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X chromatin in oral mucosal cells in some anomalies of sex differentiation

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.

Discussion

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

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Table 2: Reason for referral and x chromatin status as positive or negative of the phenotypic females

 
X Chromatin
Positive
Negative

Suspected Turner syndrome

Short stature

Suspected testicular feminisation

Suspected congenital adrenal hyperplasia

Primary amenorrhoea

14

03

03

09

144

04

02

00

01

21

Total
173
28

 

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Table 1: Reason for referral and X chromatin status as negative or positive of the phenotypic males

 
X Chromatin
Negative
Negative

Suspected Klinefelter syndrome

Gynaecomastia

18

00

04

03

Total
18
07