Distinctive plasma aldosterone, 18-hydroxycorticosterone, and 18-hydroxydeoxycorticosterone profile in the 21-, 17 alpha-, and 11 beta-hydroxylase deficiency types of congenital adrenal hyperplasia.
Forms of congenital adrenal hyperplasia resulting from deficient steroid hydroxylation at positions 21, 17 alpha, and 11 beta have several similar clinical and biochemical characteristics. Biochemical diagnosis has been dependent on the demonstration of elevated plasma or urinary concentrations of metabolites of the immediate biosynthetic precursor before the enzymatic block, especially after stimulation with adrenocorticotropin. Aldosterone, 18-hydroxycorticosterone, and 18-hydroxydeoxycorticosterone are not closely involved nor are they immediate precursors of any of these enzymatic defects. However, simultaneous determination of the baseline plasma levels of these steroids in patients with nonsodium-losing 21-hydroxylase deficiency (n = 12), 17 alpha-hydroxylase deficiency (n = 6), and 11 beta-hydroxylase deficiency (n = 2) revealed a consistent and distinct pattern (mean +/- SEM in nanograms per deciliter): aldosterone (28.1 +/- 2.8) and 18-hydroxycorticosterone (84.5 +/- 9.2) levels were elevated and 18-hydroxydeoxycorticosterone (8.0 +/- 0.8) levels were within normal limits in 21-hydroxylase deficiency; 18-hydroxycorticosterone (327.2 +/- 73.9) and 18-hydroxydeoxycorticosterone (236.0 +/- 33.8) levels were elevated and aldosterone (3.5 +/- 0.6) levels were reduced in 17 alpha-hydroxylase deficiency; levels of all three steroids (aldosterone 2.6 +/- 0.4, 18-hydroxycorticosterone 5.1 +/- 3.1, 18-hydroxydeoxycorticosterone 0.9 +/- 0.1) were reduced in 11 beta-hydroxylase deficiency. It is suggested that simultaneous measurement of these three steroids can be useful in identifying and further characterizing each of these forms of congenital adrenal hyperplasia.
D015069:18-Hydroxycorticosterone / Q000097:blood*; D015070:18-Hydroxydesoxycorticosterone / Q000097:blood*; D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood* / Q000201:enzymology; D000328:Adult; D000450:Aldosterone / Q000097:blood*; D002648:Child; D003345:Corticosterone / Q000031:analogs & derivatives*; D003900:Desoxycorticosterone / Q000031:analogs & derivatives*; D005260:Female; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood; D013250:Steroid Hydroxylases / Q000172:deficiency*
D015070:18-Hydroxydesoxycorticosterone; D003900:Desoxycorticosterone; D000450:Aldosterone; D015069:18-Hydroxycorticosterone; D013250:Steroid Hydroxylases; D003345:Corticosterone