Table 1.
Post ACTH stimulation test of Δ5-17-hydroxypregnenolone in patients with 3βHSD2D confirmed by HSD3B2 mutation analysis [13]
| Neonates with ambiguous genitalia | ≥378 nmol/L |
| Tanner stage I children with ambiguous genitalia | ≥165 nmol/L |
| Children with premature pubarche | ≥294 nmol/L |
| Adults | ≥289 nmol/L |