Abstract
Plasma androgen concentrations, androstenedione, dehydroepiandrosterone (DHEA), testosterone (T) were measured in cord blood and from birth to 1 year-of-age in normal infants and in 4 male and 4 female infants ultimately proven to have VCAH. Cord blood androgen concentrations in two affected males did not differ from those of normal newborns (12 female, 16 males). Androstenedione in all affected infants was highly elevated while DHEA was elevated in only 3 infants. T was clearly elevated in all affected females. However, since the normal newborn male has high T concentrations (25-428), T concentrations in male infants with VCAH (60-295) were indistinguishable from normal. T in these infants decreased with glucocorticoid administration (blank-11) suggesting that the T was adrenal in origin and that testicular testosterone was suppressed in the untreated state. Conclusions: 1) cord blood androgen concentrations may not be diagnostic for VCAH; 2) plasma androstenedione is clearly a diagnostic hormone for VCAH in both sexes while T is useful only in female infants; and 3) the evidence of suppressed Leydig cell function in affected males suggests presence of negative feedback of the gonadstat in young male infants by excess adrenal steroids.
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Pang, S., Levine, L., Chow, D. et al. 322 USEFULNESS OF PLASMA ANDROGEN CONCENTRATIONS FOR THE DIAGNOSIS OF VIRILIZING CONGENITAL ADRENAL HYPERPLASIA (VCAH) IN NEONATES AND YOUNG INFANTS. Pediatr Res 12 (Suppl 4), 417 (1978). https://doi.org/10.1203/00006450-197804001-00327
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DOI: https://doi.org/10.1203/00006450-197804001-00327