Increased urinary excretion of total 16 alpha-hydroxypregnenolone in newborn infants with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Urinary excretion of total 16 alpha-hydroxypregnenolone (16 alpha-OH-P'O), pregnanetriol (PT), and 11-oxopregnanetriol (11-O-PT) were determined by capillary gas chromatography in 32 healthy neonates and three newborn infants with congenital adrenal hyperplasia (CAH) during the first 4 weeks of life. In the 2nd and 3rd week of life, only the 16 alpha-OH-P'O excretion was pathognomonically elevated in infants with 21-hydroxylase deficiency. The values amounted to 1023, 1611 (age 1--2 weeks), and 2955 micrograms/day (3 weeks of life) compared to much lower levels in healthy peers (2nd week: mean 243, range 0--520 micrograms/day; 3rd week; mean 515, range 66--1541 micrograms/day).