Table 2.
Characteristics of the urinary steroid metabolites in patients 1 and 3: Diagnostic ratios of metabolites
| Patient 1 | P95 | Patient 3 | P95 | |
|---|---|---|---|---|
| Age (yr) | 19 | 15.5 | ||
| Global 17-hydroxylase/lyase activity: Bs/(An+Et) | 1.8 | 0.3 | 11.0 | 0.3 |
| 17-hydroxylase-activity | ||||
| Δ5-pathway: P5D/P5T-17α | 1.5 | 0.4 | 1.4 | 0.3 |
| Δ4-pathway: PD/PT | 0.0 | 0.1 | 0.2 | 0.1 |
| Global: Bs/Fs | 1.5 | 0.2 | 1.8 | 0.1 |
| 17,20-lyase-activity | ||||
| Δ5-pathway: P5T-17α/A5–3β,17β | 22.6 | 1.6 | 36.2 | 4.8 |
| Δ4-pathway: PT/(An+Et) | 1.7 | 0.2 | 4.4 | 0.2 |
| Global: Fs/(An+Et) | 1.2 | 2.2 | 6.2 | 2.0 |
| 21-hydroxylase-activity: 11-O-PT/a-Cl | 0.8 | 0.0 | 2.1 | 0.0 |
| Backdoor pathway: An/Et | 0.8 | 1.3 | 1.7 | 1.6 |
Abbreviations and trivial and systematic names of steroids are as follows: An, Androsterone, 5α-androstane-3α-ol-17-one; Et, etiocholanolone, 5β-androstane-3α-ol-17-one; P5D, pregnenediol, 5-pregnene-3β,20α-diol; P5T-17α, pregnenetriol-17α,5-pregnene-3β,17α,20α-triol; PD, pregnanediol, 5β-pregnane-3α,20α-diol; PT, pregnanetriol, 5β-pregnane-3α,17α,20α-triol; A5–3β,17β, androstenediol-17β, 5-androstene-3β,17β-diol; 11-O-PT, pregnanetriolone, 5β-pregnane-3α,17α,20α-triol-11-one; a-CL, α-cortolone, 5β-pregnane-3α,17α,20α,21-tetrol-11-one; THA, tetrahydro-11-dehydrocorticosterone, 5β-pregnane-3α,21-diol-11,20-dione; THB, tetrahydrocorticosterone, 5β-pregnane-3α,11β,21-triol-20-one; aTHB, allo-tetrahydrocorticosterone, 5α-pregnane-3α,11β,21-triol-20-one; THF, tetrahydrocortisol, 5β-pregnane-3α,11β,17α,21-tetrol-20-one; aTHF, allo-tetrahydrocortisol, 5α-pregnane-3α,11β,17α,21-tetrol-20-one; THE, tetrahydrocortisone, 5β-pregnane-3α,17α,21-triol-11,20-dione; Bs, Sum of metabolites of corticosterone (THB+aTHB+THA); Fs, sum of metabolites of cortisol (THF+aTHF+THE); P95, 95th percentile of reference values (19,20).