RAPID ASSAY OF PLASMA 21-DEOXYCORTISOL AND 11-DEOXYCORTISOLIN CONGENITAL ADRENAL HYPERPLASIA

SUMMARY Plasma assays using highly specific antisera to 21‐deoxycortisol, 21‐deoxycortisone and 11‐deoxycortisol were developed to provide a rapid means of diagnosis in patients with congenital adrenal hyperplasia (CAH). The assays were done on plasma extracts with and without Celite chromatography to compare the results of direct assays on plasma extracts and assays on purified plasma extracts. Both methods showed elevations of metabolites that permitted the correct diagnosis of the specific enzyme deficiency. Untreated patients with 21‐hydroxylase deficiency had elevated levels of 21‐deoxycortisol, 21‐deoxycortisone and 17‐hydroxyprogesterone. One of the untreated patients with 21‐hydroxylase deficiency had elevated levels of these metabolites due to inadequate glucocorticoid treatment. In one newborn patient, who developed a salt‐losing syndrome, a combined deficiency of 11‐ and 21‐hydroxylase appeared to be present based on elevations of plasma concentrations of 11‐deoxycortisol (2.7 μg/dl), 21‐deoxycortisol (10.3 μg/dl), 21‐deoxycortisone (8.6 μg/dl), and 17‐hydroxyprogesterone (> 20 μg/dl). After treatment was begun the levels of all four metabolites returned to normal. This patient had XX/XO karyotype and ambiguous genitalia. Fourteen normal neonates were studied as controls for this subject. Normal neonates all had low plasma levels of these compounds. Their 21‐deoxycortisol concentrations were all less than 0.5 μg/dl and their 11‐deoxycortisol concentrations were all less than 0.1 μg/dl. The study shows that accurate, rapid plasma diagnosis is possible in patients with congenital adrenal hyperplasia, using specific radioimmunoassay procedures.