Table 1. CYP21 genotypes of the 31 girls with CAH diagnosed in the neonatal period
| Genotype group |
No. |
Age at study yr (mean) |
Toy play, seconds, median (range)
|
Prader score (mean) |
SW/SV |
Genotypes included in the group |
No. |
| Masculine |
Feminine |
Neutral |
|
| Null1 |
10 |
5.3 |
394 (273–598) |
25 (0–144) |
0 (0–65) |
3.8 |
10/0 |
Null/null |
10 |
| 12Splice |
9 |
6.3 |
340 (39–478) |
0 (0–275) |
0 (0–346) |
3.4 |
9/0 |
12Splice/null |
6 |
|
|
|
|
|
|
|
|
12Splice/12Splice |
2 |
|
|
|
|
|
|
|
|
12Splice/null or 12Splice/12Splice |
1 |
| 1172N |
9 |
6.2 |
25 (0–420) |
16 (0–322) |
0 (0–386) |
2.0 |
4/42 |
1172N/null |
2 |
|
|
|
|
|
|
|
|
1172N/12Splice |
4 |
|
|
|
|
|
|
|
|
1172N/1172N |
3 |
| V28IL |
3 |
4.4 |
353 (104–386) |
60 (0–103) |
81 (0–180) |
0.7 |
3 |
V28IL/null |
2 |
|
|
|
|
|
|
|
|
V281L/12Splice |
1 |
| Control |
31 |
5.8 |
231 (0–420) |
18 (0–420) |
43 (0–420) |
|
|
|
|
|
The mean Prader score and classification with respect to salt-wasting (SW) or simple virilizing (SV) form of CAH as well as the number of seconds that the girls in the different genotype groups played with the different types of toys are also listed.
1 Null mutations were CYP21 deletion, V281L+L307insT (two mutations in the same allele), L307insT+Q318X, I172N+ClusterE6+V281L+L307insT+Q318X+R356W (six point mutations in the same allele), Q318X, and W405X.
2 For one patient, who was adopted, the classification was not available.
3 The patients in the V281L genotype group were nonclassical.