Table 1 Characteristics of 15 patients diagnosed with either a 3β-hydroxy-Δ5-C27-steroid oxidoreductase deficiency or a Δ4–3-oxosteroid 5β-reductase deficiency and who received long-term therapy with cholic acid
Patienta (Family) | Sex | Age at CA therapy initiation (years) | Duration of CA therapy (years) | Age at last follow-up (years) | Daily dose of CA at last follow-up | |
|---|---|---|---|---|---|---|
mg.kg−1 | mg | |||||
3β-HSD deficiency | ||||||
1 (A) | M | 3.9 | 24.1 | 28.0 | 6.1 | 500 |
2 (B) | F | 4.3 | 24.1 | 28.4 | 6.9 | 450 |
3 (C) | F | 7.8 | 24.1 | 31.8 | 5.8 | 350 |
4 (D1) | F | 4.3 | 24.1 | 28.3 | 7.5 | 400 |
5 (D2) | F | 0.6 | 14.6 | 15.3 | 6.5 | 300 |
6 (E1) | M | 5.2 | 24.1 | 29.3 | 6.4 | 500 |
7 (E2) | F | 13.1 | 24,1 | 37.2 | 8.3 | 500 |
8 (F) | M | 2.3 | 21.9 | 24.3 | 8.4 | 400 |
9 (G1) | F | 2.3 | 21.4 | 23.8 | 8.3 | 450 |
10 (G2) | F | 11.6 | 21,4 | 33.1 | 9.6 | 500 |
11 (H) | F | 0.8 | 20.1 | 20.9 | 5.5 | 300 |
12 (I1) | M | 5.1 | 16.2 | 21.3 | 4.8 | 350 |
13 (I2) | F | 0.3 | 15.5 | 15.8 | 3.4 | 300 |
Δ 4 –3-oxo-R deficiency | ||||||
14 (J1) | F | 0.7 | 20.0 | 20.8 | 7.8 | 400 |
15 (J2) | F | 0.7 | 20.0 | 20.8 | 7.5 | 400 |
Median | 3.9 | 21.4 | 24.3 | 6.9 | 400 | |
Range | 0.3–13.1 | 14.6–24.1 | 15.3–37.2 | 3.4–9.6 | 300–500 | |