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431 ELEVATED TESTOSTERONE (T) LEVELS IN A NEWBORN WITH 3-BETA-HYDROXYSTEROID DEHYDROGENASE (3 β-HSD) DEFICIENCY

The lack of virilization in newborn males with 3β -HSD deficiency has been attributed to their inability to synthesize Δ 4 steroids, particularly T. However, no steroidal studies using radioimmunoassay technology have been performed in the newborn with this disorder. A newborn male with pseudovaginal perineoscrotal hypospadias was found to have a serum 17 hydroxyprogesterone (17 OH P) level of 11,000 ng/dl and a T concentration of 1,095 ng/dl. The serum 17-hydroxypregnenolone concentration was 21,200 ng/dl and urine steroid determinations revealed a predominance of 16-alpha- Δ5-hydroxysteroids, with a Δ5 to Δ4 steroid ratio of greater than 1, confirming the presence of 3 β-HSD deficiency. Tetrahydro-E, the major urinary cortisol metabolite, was virtually absent. Although the initial serum T concentration was markedly elevated, HCG stimulation revealed a blunted T response with a stimulated Δ5-androstenediol to T ratio of 5 to 1. The markedly elevated Δ 4 steroids, including T, probably resulted from in utero conversion of Δ5 steroids by hepatic 3β -HSD activity. Although hepatic T production resulted in elevated serum T concentrations, the lack of urethral fold fusion in this infant can be explained by the relatively late onset of hepatic enzyme activity when urethral fold fusion can no longer be induced. These findings suggest that Δ4 steroids, particularly T and 17 OH P, are elevated in infants with 3 β-HSD deficiency. Although 17 OH P determinations may serve as a screening test for congenital adrenal hyperplasia, further evaluation is needed to confirm the specific enzyme defect.