Analysis of 21-deoxycortisol, a marker of congenital adrenal hyperplasia, in blood by atmospheric pressure chemical ionization and electrospray ionization using multiple reaction monitoring
Articolo
Data di Pubblicazione:
2004
Citazione:
Analysis of 21-deoxycortisol, a marker of congenital adrenal hyperplasia, in
blood by atmospheric pressure chemical ionization and electrospray ionization
using multiple reaction monitoring / S. Cristoni, D. Cuccato, M. Sciannamblo, L. Rossi Bernardi, I. Biunno, P. Gerthoux, G. Russo, G. Weber, S. Mora,. - In: RAPID COMMUNICATIONS IN MASS SPECTROMETRY. - ISSN 0951-4198. - 18:1(2004), pp. 77-82.
Abstract:
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder mainly
caused by 21-hydroxylase deficit (21-OHD). Deletions or mutations of the CYP21
gene induce the impairment of glucocorticoid and mineralcorticoid synthesis.
17-Hydroxyprogesterone (17-OHP) is the hormonal marker in patients, but not in
the heterozygous subjects. Excess 17-OHP is hydroxylated into 21-deoxycortisol
(21-DF), and therefore 21-DF can be used as a specific marker for diagnosis of
heterozygous individuals. We report an analytical method for analysis of 21-DF
in blood samples using electrospray (ESI) and atmospheric pressure chemical
ionization (APCI), showing that ESI is very sensitive for the analysis of this
marker molecule. The multiple reaction monitoring (MRM) approach was used to
increase the specificity and the sensitivity of the method.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
21-deoxycortisol
Corticotropin
Elenco autori:
S. Cristoni, D. Cuccato, M. Sciannamblo, L. Rossi Bernardi, I. Biunno, P. Gerthoux, G. Russo, G. Weber, S. Mora,
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