Table 1 Clinical data of CAH patients
Case | Sex1 | Age at diagnosis2 | Clinical Data | basal 17OHP (nmol/L) | Na+/K+(mmol/L) | Phenotype3 |
|---|---|---|---|---|---|---|
1 | M | 1 m 28 d | vomiting, dehydration | na4 | 129/6.2 | SW |
2 | F | 12 d | ambiguous genitalia; Prader III | > 20 ndm5 | 137/6.2 | SW |
3 | M | 2 m 24 d | vomiting, dehydration | 49.3 | 116/9.2 | SW |
4 | F | 19 d | vomiting, dehydration; registered as male | na | 128/7.8 | SW |
5 | M | 31 d | vomiting, dehydration | > 20 ndm | 120/5.5 | SW |
6 | M | 2 m 8 d | vomiting, dehydration | > 200 ndm | 121/6.8 | SW |
7 | F | 10 m | ambiguous genitalia; Prader III | > 25 ndm | 142/5.0 | SV |
8 | F | 6 d | ambiguous genitalia; Prader III/IV | > 200 ndm | 123/7.4 | SW |
9 | F | np | ambiguous genitalia; Prader IV | SW | ||
10 | M | 1 yr 1 m | vomiting, dehydration | > 25 ndm | 120/6.8 | SW |
11 | F | 6 yr 3 m | precocious pubarche since 4 yr 6 m; high stature | > 25 ndm | nt | NC |
12 | F | 10 d | ambiguous genitalia; Prader III | > 20 ndm | 121/6.5 | SW |
13 | F | np | ambiguous genitalia; Prader III/IV; vomiting, dehydration; registered as male | na | na | SW |
14 | F | np | ambiguous genitalia; Prader III | na | na | SW |
15 | F | 14 d | ambiguous genitalia; Prader IV | > 6 ndm | 119/5.3 | SW |
16 | M | 28 d | vomiting, dehydration, adrenal crysis | > 200 ndm | 119/9.7 | SW |
17 | M | 3 yr 5 m | precocious pubarche since 2 yr | > 20 ndm | na | SV |
18 | M | 6 yr | precocious pubarche | > 20 ndm | na | SV |
19 | F | 5 yr 7 m | precocious pubarche, ambiguous genitalia; Prader IV | 238 | na | SV |
20 | F | 37 d | ambiguous genitalia; Prader III | > 20 ndm | 136/5.7 | SV |