Analysis of 21-deoxycortisol, a marker of congenital adrenal hyperplasia, in blood by atmospheric pressure chemical ionization and electrospray ionization using multiple reaction monitoring.
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.
Cristoni
Simone
S
University of Milan, Centre for Biomolecular Interdisciplinary Studies and Industrial Applications CISI, Via Fratelli Cervi 93, 20090 Segrate, Milan, Italy. dtoycr@tin.it
Cuccato
Debora
D
Sciannamblo
Mariateresa
M
Bernardi
Luigi Rossi
LR
Biunno
Ida
I
Gerthoux
Piermario
P
Russo
Gianni
G
Weber
Giovanna
G
Mora
Stefano
S
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*
C003556:21-deoxycortisol; D000324:Adrenocorticotropic Hormone; D003350:Cortodoxone