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Diagnosis of congenital adrenal hyperplasia by rapid determination of 17α-hydroxyprogesterone in dried blood spots by gas chromatography/mass spectrometry following microwave-assisted silylation



17α-Hydroxyprogesterone (17OHP) is considered to be the biomarker of congential adrenal hyperplasia (CAH). Screening for CAH in newborns by measuring levels of the biomarker of 17OHP has become routine. In the work, a rapid, simple and sensitive technique was developed for the diagnosis of neonatal CAH by the quantitative analysis of 17OHP in neonatal blood spots. The technique was based on microwave-assisted silylation (MAS) followed by gas chromatography/mass spectrometry (GC/MS). In the method, fast derivatization of 17OHP with N,O-bis(trimethylsilyl)trifluoroacetamide was performed by using microwave irradiation, and the trimethylsilyl derivative thus formed was analyzed by GC/MS. The results of the experiment indicate that MAS followed by GC/MS analysis is a rapid, simple and sensitive method for the determination of 17OHP in blood samples. The proposed technique has been shown to have potential as a powerful tool for the rapid diagnosis of neonatal CAH. Copyright © 2005 John Wiley & Sons, Ltd.