Table 2 Demographic and clinical characteristics of the mutation groups C1, C2 and C3; mean ± standard deviation (SD); conversion factors: 17OHP ng/ml × 3 = nmol/L, cortisol ng/ml × 27.6 = nmol/L

Mutations

severe/mild

mild/mild

heterozygous

Number of patients/individuals (n)

83

21

17

Sex (f/m)

63/20

19/2

13/4

Chronological age (CA) at diagnosis (years)

6.9 ± 4.3

6.2 ± 3.3

9.0 ± 5.1

ns

Symptomatic [n (%)]

71 (85.5)

20 (95.2)

16 (94.1)

ns

 Premature pubarche

73.2

85.0

68.8

ns

 Acne

23.9

30.0

18.8

ns

 Clitoris hypertrophy*

17.2

15.7

12.5

ns

 Hirsutism*

9.5

5.2

3.1

< 0.01 a

 Seborrhoea

9.9

5.0

18.8

< 0.05 ^c

Height (SDS)

0.8 ± 1.3

1.1 ± 1.3

0.2 ± 1.3

ns

Bone Age (BA) > 1 year (%)

73.3

84.2

80.0

ns

Delta BA-CA (years)

2.0 ± 1.5

1.9 ± 1.4

1.8 ± 1.0

ns

17OHP (ng/ml)

19.5 ± 22.4

9.4 ± 7.4

4.1 ± 6.6

< 0.01a^,b

< 0.05c

ACTH test (n)

46

14

13

 17OHP (ng/ml) 0 min

27.3 ± 28.8

12.7 ± 11.1

2.7 ± 2.6

< 0.01a^,b^,c

 17OHP after ACTH

83.7 ± 97.4

58.7 ± 37.3

9.0 ± 4.2

< 0.001a^,c

 Cortisol (ng/ml) 0 min

119.4 ± 53.0

134.9 ± 56.8

112.8 ± 69.8

ns

 Cortisol after ACTH

192.0 ± 62.5

218.4 ± 50.1

297.3 ± 98.7

< 0.01^a,c