A new calibration material suitable for LC/MS applications in clinical and diagnostic testing and endocrinology. 21-deoxycortisol, a steroid intermediate in the formation of cortisol, is measured in whole blood or serum by LC/MS for newborn screening of congenital adrenal hyperplasia (CAH) and other adrenal diseases.
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Snap-N-Spike is a registered trademark of Merck KGaA, Darmstadt, Germany
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Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association, 114(4), 208-214 (2006-05-18)
Congenital adrenal hyperplasia results from 21-hydroxylase deficiency in more than ninety percent of cases. The classical form of 21-hydroxylase deficiency presents in the neonatal period with virilization or adrenal insufficiency, with or without concurrent salt wasting. We report on a
The study was aimed at evaluation of usefulness of determination of blood serum 21-deoxycortisol concentration for the detection of heterozygous carriers of incomplete block of 21-hydroxylase synthesis leading to adrenal hyperplasia. An earlier observation of the authors that the determination