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    Title: Rapid screening assay of congenital adrenal hyperplasia by measuring 17 alpha-hydroxyprogesterone with high-performance liquid chromatography/electrospray ionization tandem mass spectrometry from dried blood spots
    Authors: Lai,Chien-Chen;Chang-Hai Tsai;Tsai,Fuu-Jen;Wu,Jer-Yuarn;Wei-De Lin;Lee,Chun-Cheng
    Date: 2002-01
    Issue Date: 2009-12-23 14:20:34 (UTC+8)
    Publisher: Asia University
    Abstract: A rapid, simple, and specific method was developed for the diagnosis of congenital adrenal hyperplasia (CAH) from dried blood spots on newborn screening cards based on high-performance liquid chromatography/electrospray ionization tandem mass spectrometry (HPLC/ESI-MS/MS). The usefulness of 17-hydroxyprogesterone (17OH-P) determination on dried filter-paper blood samples from patients with CAH caused by 21-hydroxylase deficiency was evaluated. The LC/MS/MS detection of 17OH-P was rapid, <4 min. The intra- and interday accuracy and precision of the method were <7%. Our procedure maintained good linearities (R2 > 0.992) and recovery rate (>83%). We used this new method to directly determine the 17OH-P levels in dried blood specimens from abnormal children of various ages, with a detection limit of 20 ng/ml (240 pg), to avoid the time-consuming derivatization steps required by the gas-chromatography/mass spectrometry (GC/MS) method. Four dried filter-paper blood samples of CAH patients (three girls and one boy, 1-14 years old) were all quantified in an LC/MS/MS study and revealed high 17OH-P levels (>90 ng/ml). After treatment, all of the elevated 17OH-P levels either decreased or disappeared. Compared with CAH patients, 17OH-P was nearly undetectable (<20 ng/ml) in the normal infants by LC/MS/MS. This LC/MS/MS assay is not only useful for both diagnosis and monitoring of treatment of CAH in all other age groups, it also can be used as a screening test for CAH infants. In this study, we provided the first data on 17OH-P in dried blood specimens affected with CAH using HPLC/ESI-MS/MS. J. Clin. Lab. Anal. 16:20-25, 2002.
    Appears in Collections:[College of Medical and Health Science] Journal Article

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