Serum 21-deoxycortisol and 17-hydroxypregnenolone in parents of patients with congenital adrenal hyperplasia.

The response of serum 21-deoxycortisol (21-DF), 17-hydroxypregnenolone (17-OHPE), 11-deoxycortisol and cortisol to iv ACTH, was compared in 14 adult controls ane and post stimulation concentrations of hormones were similar in controls and parents, except for those of 21-DF, which were significantly greater in heterozygotes 30 min (p less than 0.005), 60 min (p less than .0025) and 90 min (p less than 0.005) after stimulation with ACTH. When rates of increase were determined, those of 21-DF at 30, 60 and 90 min were significantly higher in the parents. Sixteen of the 26 parents (62%) had a rate of increase of 21-DF from 0 to 60 min greater than the mean plus two standard deviations of the control group. Using this same criteria, 11 of the 13 mothers (85%) of affected children could be identified as heterozygotes. The rate of increase of 21-DF from 0 to 60 min following ACTH provides a method for the detection of some heterozygote carriers of congenital adrenal hyperplasia and may be useful particularly in the identification of female carriers.