Table 1 Summary of laboratory data for the affected subject with steroid 11β-hydroxylase deficiency
Parameter | Result | Reference range | |
|---|---|---|---|
Basal level | 3 months after treatment with hydrocortisone | ||
ACTH (pg/ml) | 48.9 | 16.59 | 7.2–63.3 |
Cortisol (nomol/L) | 322 | 391 | 171–536 |
Aldosterone (ng/ml) | 0.13 | 0.12 | 0.07–0.30 |
Renin (ng/ml) | 0.08 | 0.44 | 0.93–6.56 |
Serum K+ (mmol/L) | 3.64 | 4.13 | 3.50–5.30 |
Serum Na+ (mmol/L) | 141.2 | 139.2 | 137.0–147.0 |
Testosterone (nmol/L) | 6.07 | 0.76 | 0.69–2.77 |
Androstendione (nmol/L) | > 35 | 6.8 | 2.09–10.82 |
DHEA-S (umol/L) | 5.02 | 3.31 | 0.95–11.67 |
Free Testosterone (pmol/L) | 42.27 | 13.24 | 0.77–33.03 |
Estradiol (pmol/L) | 202 | – | 73.4–587 |
Progestogen (nmol/L) | 4.67 | – | 0.64–3.6 |
17OHP (nmol/L) | 11.6 | – | 0–30 |