A 46, XY phenotypically female infant with 17-ketosteroid reductase (17-KSR) showed
normal plasma androgens for chromosomal sex shortly after birth, but did not show
the physiologic testosterone rise. One intramuscular injection with human chorionic
gonadotropin resulted in high ratios between androstenedione/testosterone and dehydroepiandrosterone/Δ5-androstenediol,
confirming the diagnosis. In spermatic vein plasma similarly elevated ratios were
found. A urinary steroid profile revealed elevated levels of metabolites of 17-OH-progesterone
and androstenedione. In vitro studies in testicular tissue showed a decreased capacity
of 17-ketosteroid reductase, the reduction capacity being more affected than the oxidation
capacity. The activity of 3β-hydroxysteroid-dehydrogenase was slightly increased.
The serial analysis of plasma androgens provides more insight in the natural history
of 17-ketosteroid reductase.
Male Pseudohermaphroditism
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17-Ketosteroid Reductase
