title: Analysis of 21-deoxycortisol, a marker of congenital adrenal hyperplasia, in blood by atmospheric pressure chemical ionization and electrospray ionization using multiple reaction monitoring.
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.
authors.affiliation: University of Milan, Centre for Biomolecular Interdisciplinary Studies and Industrial Applications CISI, Via Fratelli Cervi 93, 20090 Segrate, Milan, Italy. dtoycr@tin.it
authors.forename: Simone
authors.initials: S
authors.lastname: Cristoni
authors.forename: Debora
authors.initials: D
authors.lastname: Cuccato
authors.forename: Mariateresa
authors.initials: M
authors.lastname: Sciannamblo
authors.forename: Luigi Rossi
authors.initials: LR
authors.lastname: Bernardi
authors.forename: Ida
authors.initials: I
authors.lastname: Biunno
authors.forename: Piermario
authors.initials: P
authors.lastname: Gerthoux
authors.forename: Gianni
authors.initials: G
authors.lastname: Russo
authors.forename: Giovanna
authors.initials: G
authors.lastname: Weber
authors.forename: Stefano
authors.initials: S
authors.lastname: Mora
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000097:blood* / Q000175:diagnosis / Q000201:enzymology*; D000324:Adrenocorticotropic Hormone; D001274:Atmospheric Pressure; D001774:Blood Chemical Analysis / Q000379:methods*; D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D003350:Cortodoxone / Q000032:analysis / Q000097:blood* / Q000378:metabolism; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008297:Male; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D021241:Spectrometry, Mass, Electrospray Ionization / Q000379:methods*
chemical_list: C003556:21-deoxycortisol; D000324:Adrenocorticotropic Hormone; D003350:Cortodoxone