Table 2.
Hormonal data in 14 Algerian patients with 3β-HSD deficiency.
| First available analysis | Last available analysis (LC-MS/MS) | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Patient No. | 17OHP (nmol/l)RIA | Delta4-A (ng/dl)RIA | 17 OH-Preg (nmol/l)(LC MS/MS) | DHEA-S (µg/dl)RIA | ACTH (pg/ml) | Renin (pg/ml) | 17OHP LC-MS/MS (nmol/l) | 17 OH-Preg LC-MS/MS (nmol/l) | DHEA LC-MS/MS (nmol/l) | DHEA-S LC-MS/MS (nmol/l) |
| 1/A II-2 | 60 | 6.06 | 140.4 | 464.38 | 933 | 4.12 | 119.69 | 30.60 | 4.82 | |
| 2/A II-3 | 0.37* | 9.4* | 2* | <0.3* | 1.06* | 0.89* | ||||
| 3/B II-1 | 164.3 | 5.73 | 1297 | 900 | 2,135 | 851 | 2.14 | |||
| 4/B II-2 | 320 | 2.34 | 20.8* | 1,000 | 133 | 960 | 1.47 | |||
| 5/C II-3 | 242 | 2.24 | 112.21 | 538 | 475 | 360 | 4.3 | 67.57 | 30.60 | 3.98 |
| 6/D II-1 | 19.26* | 1 | 159.33 | 1,105 | 30.98 | 1,040 | 3.5 | 131.99 | 77.28 | 2.88 |
| 7/E II-8 | 7.75* | 0.98 | 127 | 120 | 597 | 1.2 | 27.65 | 77.08 | ||
| 8/E II-9 | 99 | 4.95 | 139 | 5,441.29 | 540 | 7.3 | 92.63 | |||
| 9/F II-1 | 84.85 | 0.32 | 295 | 150 | 1 | 43.02 | 3.46 | |||
| 10/G II-5 | 1.83* | 2.33* | 17.75* | 1,080* | 16,634 | 3.5 | 89.13 | 27.62 | 16.63 | |
| 11/G II-1 | 804 | 157 | 687 | 10,665 | 2.14 | 93 | 4.37* | 20.14 | ||
| 12/H II-2 | 60 | 0.01 | 10.9* | 4.32 | 234.8 | 802 | 4.15 | 127.2 | 19.35 | |
| 13/I II-1 | 73.7 | 1,500 | 53 | 0.08* | 1.75* | 0.30* | 2.9* | |||
| 14/J II-5 | 41.6 | 34.84 | 3.23* | |||||||
| Reference Range | [0.4–3.3] | [0.21–3.08] | [0.13–13.7] | [30–333] | [29–38] | [360–1,040] | [0.49–1.87] | [0.13–13.7] | 0.5–2 y [0.2–8.7] | 1–4 y: [10–530] 5–9 y [80–2,310] |
*Analysis performed while on hydrocortisone treatment. 17-OHP, 17 hydroxyprogesterone; 17OH-Preg, 17 hydroxypregnenolone; DHEAS, dehydroepiandrosterone sulfate; ACTH, adrenocorticotrophic hormone; Delta4-A, Delta 4-Androstenedione; LC-MS/MS, Liquid Chromatography coupled to tandem Mass Spectrometry.
Please see Supplementary Table S1 for age-appropriate reference ranges. Hormonal analysis was performed where possible either before starting treatment or within a day of treatment.