Investigations in seven Antley-Bixler patients with abnormal steroid profiles. Cortisol and 17-hydroxyprogesterone values are in nmol/l
| Patient | Steroid biochemistry | Family members |
| MA | Serum cortisol - 28 (83–800) | Not investigated |
| JH | Raised pregnanetriol - 750 (50–480) | Father has similar urinary steroid profile |
| Low excretion of urinary cortisol metabolites. | ||
| SP | 17-hydroxyprogesterone - 42.8 (<12) | Father has similar urinary steroid profile |
| Aldosterone - 4180 (<1500) | ||
| Renin - 17 (<6) | ||
| Low synacthen response. | ||
| BM | 17-hydroxyprogesterone - 163(<12) | Paternal aunt has CYP21 deficiency. |
| Father heterozygote for minor deletion CYP21 | ||
| BW | Pregnanetriol - 60 (<50) | Not investigated |
| α-cortol - 120 (<20) | ||
| DK | 17-hydroxyprogesterone - 13 (<12) | Not investigated |
| FSH -18U/l (<3) | ||
| LH - 9.8U/l (<6) | ||
| MJ | 17-hydroxyprogesterone - 19.2 (<12) | Not investigated |
| Rasied ACTH - 410 |