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Screening tests for congenital adrenal hyperplasia.

ABSTRACT A method of plasma steroid determinations utilizing solvent partition separation and competitive protein-binding quantitation has been evaluated as a screening test for congenital adrenal hyperplasia (CAH). Aliquots of petroleum ether (before and after incubation with 3β-hydroxysteroid dehydrogenase), benzene and dichlormethane extracts of a deproteinized plasma sample are compared to 17-hydroxyprogesterone, compound S and cortisol standards, respectively. Results in ng of steroid per ml of plasma are expressed as a precursor to cortisol ratio. Determinations on specimens other than cord blood allowed identification of normals (children and adults) and subjects with C-21 (children with CAH) or C-11 (adults post-metyrapone) hydroxylation defects. Patients with 3β-HSD or C-17 hydroxylation defects were not available for study but determinations on pooled plasma containing 17-hydroxypregnenolone or corticosterone suggest these defects could also be detected.