A ‘Blood Spot’ Androstenedione Radioimmunoassay Able to Detect Congenital Adrenal Hyperplasia
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.
KeywordsCongenital Adrenal Hyperplasia Precocious Puberty Neonatal Screening Hydroxylase Deficiency Classical Congenital Adrenal Hyperplasia
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