Development of plasma 21-deoxycortisol radioimmunoassay and application to the diagnosis of patients with 21-hydroxylase deficiency

Simultaneous quantitation of seven endogenous C-21 adrenal steroids by liquid chromatography tandem mass spectrometry in human serum

“…Although 17-hydroxyprogesterone and 11-desoxycortisol are the most used markers to diagnose CAH defects, the use of other steroids from C21-steroid metabolic pathway is relatively unexplored, mainly due to the lack of practical methodologies. 21-Desoxycortisol has been described as a more sensitive marker than 17-hydroxyprogesterone for 21-hydroxylase deficiency detection and its determination after ACTH stimulation is becoming the new strategy for the identification of heterozygote carriers of an impaired 21-hydroxylase gene [27][28][29]. Increased 11-desoxycorticosterone levels may signal a mineralocorticoid excess in situations when aldosterone levels remain within the normal limits and it is a specific marker of the mineralocorticoid pathway [5,30].…”

Implementation of a Liquid Chromatography Tandem Mass Spectrometry Assay for Eight Adrenal C-21 Steroids and Pediatric Reference Data

“…The reason is most likely an interfering matrix effect or cross-reactivity in the immunoassays. We compared our LC-MS/MS assay to well-established RIAs after extraction and column chromatography [19,20], which overcome at least some of the interferences. Consequently, the coefficients of correlation are significantly higher compared to other studies [25,26].…”

“…21S (n = 15) was measured by RIA after Celite ® chromatography adapted according to Milewicz et al [20]. Samples for the method comparison were anonymized patient plasma samples submitted for routine clinical testing.…”

Surface‐activated chemical ionization ion trap mass spectrometry in the analysis of 21‐deoxycortisol in blood

“…7 21-DF is a very sensitive marker because it allows the detection of more than 90% of heterozygous carriers. [8][9][10][11][12][13] Plasma levels of 21-DF before and 60 min after ACTH stimulation is becoming a new approach for detection of heterozygous carriers of 21-OHD. New methods for the measurement of 21-DF in plasma have recently been described.…”