Table 1.
Case 1 laboratory values
| Patient age | ACTH, pmol/L (pg/mL) | 17OHP, nmol/L (ng/dL) | A4, nmol/L (ng/dL) | Testosterone, nmol/L (ng/dL) | PRA, ng/mL/hr |
|---|---|---|---|---|---|
| 6 days | 153 (696) | 718 (23 700) | 86 (2450) | — | 46.7 |
| 5 weeks | 18 (80) | 36 (1180) | 1.3 (38) | 1.5 (43) | 8.7 |
| 3.5 months | <LLOD | 1.2 (38) | <LLOD | — | <LLOD |
| 8 months | — | 246a (8120a) | — | — | 11 |
| 9 months | 14 (63) | 542 (17 888) | 1.7 (48) | 0.7 (21) | 25 |
| 14 months | 2 (10) | 12 (402) | <LLOD | 0.1 (2.7) | 9.7 |
| 15 months | — | 49 (1630) | <LLOD | 0.1 (3) | 13 |
“–” indicates laboratory test was not performed at that visit.
Before morning hydrocortisone dose; 17OHP value after the morning dose was 143 nmol/L (4730 ng/dL).
Normal ranges are as follows: ACTH, 0-9 years, 7.2-63 pg/mL; 17OHP, 0-28 days, < 630 ng/dL; 17OHP, 6 months-9 years, < 110 ng/dL; A4, 1-7 days, 20-290 ng/dL; A4, 1 month-1 year, < 69 ng/dL; A4, 1-9 years, < 51 ng/dL; total testosterone, 0-5 months, 75-400 ng/dL; total testosterone, 6 months-9 years, < 7-20 ng/dL; PRA, 0-2 years, 1.4-7.8 ng/mL/h (from Mayo Clinic Laboratories Pediatric Catalog; https://www.mayocliniclabs.com/test-info/pediatric/refvalues/reference.php).
Abbreviations: 17OHP, 17-hydroxyprogesterone; A4, androstenedione; ACTH, adrenocorticotropic hormone; LLOD, lower limit of detection; PRA, plasma renin activity.