Abstract
17-OHP is an important parameter for diagnosis and monitoring of 21-hydroxylase deficiency (21-OHD). Immunoassays bear the risk of falsly elevated 17-OHP values due to cross reactivity or matrix effects. We have developed a rapid, specific 17-OHP assay using GC/IDMS with a deuterated analog as internal standard (IS): equilibration of plasma with IS is followed by extraction, purification and derivatization (heptafluoro-butyrates).
Results: sensitivity (lower limit of detection 5 pg), accuracy (rel. error < 7.5%), precision (intra- and interassay coeff. of variation < 3.8%). Normal values (mean±SD, ng/ml): amniotic fluid (15-17th week, n = 5, 1.29±0.53), cord plasmaln = 16, 5.17±3.38), plasma (1-7 days, n = 10, 0.42±0.29; 8-28 days, n = 8, 1.33±0.54; <7yrs, n = 12, 0.23±0.20; 8-16yrs, n = 27, 0.35±0.19; adults, n = 24, 0.79±0.35). Values (ng/ml) at diagnosis of 21-OHD in 3 patients: 24,9 (16th wk of gest.), 22.08 (2 days), 286.6 (41 days).
Conclusions: 1) We have developed a highly reliable GC/IDMS assay for routine analysis of 17-OHP in amniotic fluid or plasma at all ages. 2) Compared to the literature, our normal values, the first produced by GC/IDMS, are much lower, especially in the neonatal period. Supported by DFG (Wu148/3).
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Wudy, S., Wachter, U., Schwarz, H. et al. QUANTIFICATION OF 17-HYDROXYPROGESTERONE (17OH-P) BY GAS CHROMATOGRAPHY/ISOTOPE DILUTION MASS SPECTROMETRY (GC/IDMS): A REFERENCE METHOD SUITABLE FOR ROUTINE USE. Pediatr Res 33 (Suppl 5), S14 (1993). https://doi.org/10.1203/00006450-199305001-00068
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DOI: https://doi.org/10.1203/00006450-199305001-00068