Abstract
Most neonatal screening programmes for congenital adrenal hyperplasia (CAH) are based on the measurement of 17-hydroxyprogesterone in blood eluted from filter paper samples (Pang et al., 1988). Androstenedione (A4) measurement may offer greater potential as a diagnostic aid because it should also detect the second most common form of CAH, 11β-hydroxylase deficiency. Unfortunately, most A4 immunoassays are too insensitive to allow large-scale neonatal screening for CAH using filter paper blood spot samples. We describe below a sensitive radioimmunoassay (RIA) able to measure A4 in blood spot samples with or without prior solvent extraction.
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References
Pang, S., Wallace, A. M., Hofman, L., Thuline, H., Dorche, C., Lyon, I. C., Dobbins, H., Kling, S., Fujieda, K. and Suwa, S. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 81 (1988) 866–874
Thomson, S. Studies on a novel androstenedione radioimmunoassay and its application to the neonatal detection of congenital adrenal hyperplasia. Fellowship Thesis, 1986, Institute of Medical Laboratory Sciences
Wallace, A. M., Beastall, G. H., Cook, B., Currie, A. J., Ross, A. M., Kennedy, R. and Girdwood, R. W. A. Neonatal screening for congenital adrenal hyperplasia: a programme based on a novel direct radioimmunoassay for 17-hydroxyprogesterone in blood spots. J. Endocrinol. 108 (1986) 299–308
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© 1989 SSIEM and Kluwer Academic Publishers
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Thomson, S., Wallace, A.M., Cook, B. (1989). A ‘Blood Spot’ Androstenedione Radioimmunoassay Able to Detect Congenital Adrenal Hyperplasia. In: Addison, G.M., Connor, J.M., Harkness, R.A., Pollitt, R.J. (eds) Studies in Inherited Metabolic Disease. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-1069-0_39
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DOI: https://doi.org/10.1007/978-94-009-1069-0_39
Publisher Name: Springer, Dordrecht
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