2002
DOI: 10.1002/jcla.2039
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Rapid screening assay of congenital adrenal hyperplasia by measuring 17α‐hydroxyprogesterone with high‐performance liquid chromatography/electrospray ionization tandem mass spectrometry from dried blood spots

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 alpha-hydroxyprogesterone (17 OH-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 17 OH-P was rapid, <4 min. The int… Show more

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Cited by 32 publications
(20 citation statements)
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“…Other methods based on gas chromatography/mass spectrometry and fluorescence detection, although offering highly specific and sensitive analysis, require derivatization (Frerichs and Tornatore, 2004). Bioanalytical methods based on LC/MS/MS represent the most specific and sensitive methods for steroid analysis (Lai et al, 2002). This technique coupled with solid-phase extraction combines the attributes of rapidity, easy processing, accuracy, specificity, sensitivity, and precision without the need for sample derivatization.…”
Section: Discussionmentioning
confidence: 99%
“…Other methods based on gas chromatography/mass spectrometry and fluorescence detection, although offering highly specific and sensitive analysis, require derivatization (Frerichs and Tornatore, 2004). Bioanalytical methods based on LC/MS/MS represent the most specific and sensitive methods for steroid analysis (Lai et al, 2002). This technique coupled with solid-phase extraction combines the attributes of rapidity, easy processing, accuracy, specificity, sensitivity, and precision without the need for sample derivatization.…”
Section: Discussionmentioning
confidence: 99%
“…For example, acylcarnitines are unstable if stored at room temperature for more than 2 weeks on DBS due to hydrolysis, but they are stable for at least 330 days when stored at ≤−18°C . Without establishing the analyte storage stability coverage (from sample collection to analysis), a retrospective reanalysis of the study samples might not be confi rmative for any purpose, especially for newborn screening, for which the confi rmatory analysis (secondtier test) is often conducted, but only after the initial population screening Lai et al, 2001Lai et al, , 2002la Marca et al, 2007la Marca et al, , 2008aMatern et al, 2007). Stability assessment.…”
Section: Stabilitymentioning
confidence: 99%
“…In the current study, we have followed an analogous methodology whereby steroids with a 3␤-hydroxy-⌬ 5 structure have been converted to their 3-oxo-⌬ 4 oxidation products by treatment with cholesterol oxidase [35][36][37], and then reacted with Girard P (GP) reagent to give GP hydrazones [38,39]. Girard hydrazones possess a quaternary nitrogen and are readily analyzed by electrospray (ES) mass spectrometry [35][36][37][38][39][40][41][42][43][44][45]. Furthermore, tandem mass spectrometry (MS/MS) provides high sensitivity and structural information for GP hydrazone analysis.…”
mentioning
confidence: 99%