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

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Abstract
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 and 13 sets of parents of children with adrenal 21-hydroxylase deficiency. The baseline 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 (ppp< 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.