PITUITARY-ADRENAL ACTIVITY IN UNTREATED CONGENITAL ADRENAL HYPERPLASIA

The pituitary and adrenal activitiesin untreated congenital adrenal hyperplasia (CAH) were studied. Two children had 11β-hydroxylase deficiency: subject 1, 8½ yr, and subject 2, 6½ yr. The daily 11-desoxycortisol and cortisol secretionrates were 47 and 18 mg respectively, for subject 1 and 32 and 10 mg respectively for subject 2. The plasma half-life, distribution volume and MCR of 11-desoxycortisol in subject 2 were 22 min., 38.5 l and 1750 l/day. The values for cortisol in subject 1 were T½ = 45 min., 26.6 l distribution volume and MCR of 590 l/day. Two children had 21-hydroxylase deficiency: subject 3, 5 10/12 yr, and subject 4, 10 months old. In subject 3 the plasma T½, apparent distribution volume and MCR of cortisol were 51 min., 11.7 1 and 230 l/day. It was calculated that subject 3 produced 35 mg of 21-desoxycortisol and 9 mg of cortisol daily. Urinary steroid metabolites were studied in all 4 subjects; the patterns weretypical for their respective genetic defect. Plasma corticosteroid concentrati...