Rapid diagnosis of congential adrenal hyperplasia (CAH) by plasma steroid determinations

Abstract

A sem-quantitative method for steroid determinations in a 0.5 ml plasma sample has been evaluated for the rapid (4–6 hr) diagnosis of CAH. Pet ether, benzene and methylene chloride extracts of plasma are quantitated by competitive protein binding using 17-hydroxyprogesterone (17-OHP), 11-deoxycortisol (cmpd S), and cortisol standards, respectively, for comparison. The observed plasma steroid concentrations are expressed as a ratio of “17-OHP” + “cmpd S” to “cortisol” since comparison of ratios, rather than absolute values, has been found to differentiate normals from patients more clearly. Plasma samples have been obtained from six normal children aged 4 days–7 yrs following administration of ACTH, from six adults with 11-hydroxylation impaired by the administration of metyrapone, and from three children aged 11 mos, 6 yrs and 8 years with CAH due to deficient 21-hydroxylation (five samples). The raios of “17-OHP” + “cmpd S” to “cortisol” for the respective groups have been determined: These preliminary results suggest usefulness of the procedure for rapidly ascertaining the presence or absence of the common variants of CAH, although further data from both normals and patients will be required for confirmation.