Table 2.
Laboratory services for the initial investigation of DSD.
| Plasma (essential) | If first plasma tests not fully informative | Urine | |
|---|---|---|---|
| 46,XX DSD - newborn | 17-OHP, cortisol, androstenedione, ACTH. Electrolytes. Synacthen test. In some cases will need plasma renin activity (concentration) and aldosterone concentration. |
DHAS, 11-deoxycortisol | Steroid profile very effective for adrenal disorders. Characteristic patterns for defects of CYP21A2, HSD3B2, CYP11B1, CYP17, and POR. Very low levels of steroids are seen with defects of CYP11A1and StAR. |
| 46,XY DSD - newborn | Plasma testosterone, DHAS, LH, FSH. AMH, inhibin B (ACTH, Synacthen test)* |
Plasma androstenedione, testosterone, DHT (before and after hCG). | Steroid profile can exclude 17-hydroxylase and 3β-hydroxysteroid deficiencies but not helpful for testicular defects except 5α-reductase deficiency. |
DHAS - dehydroepiandrosterone sulphate.
DHT - 5-alpha dihydrotestosterone.
* Consider tests of adrenal function in 46,XY DSD.