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. 2010 Apr;24(2):335–354. doi: 10.1016/j.beem.2010.01.006

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.