Abstract
Urinary excretion of total 16α-hydroxypregnenolone (16α-OH-P'O), pregnanetriol (PT) and 11-oxopregnanetriol (11-0-PT) were determined by capillary gas chromatography in 18 healthy neonates and 3 newborn infants with congenital adrenal hyperplasia (CAH) during the first three weeks after birth. In the 4th week of life all CAH-infants demonstrated salt loosing crisis.
Conclusion: The determination of urinary excretion of 16α-OH-P'O is a valuable tool in the reliable detection of 21-hydroxylase deficiency during the first weeks of life when conventional tests may fail.
Supported by DFG SFB 87 Project C-3
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Homoki, J., Teller, W. Increased urinary excretion of 16α-hydroxy-pregnenolone in newborn infants with 21-hydroxylase deficiency.. Pediatr Res 13, 1193 (1979). https://doi.org/10.1203/00006450-197910000-00080
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DOI: https://doi.org/10.1203/00006450-197910000-00080