Analysis of 21-deoxycortisol, a marker of congenital adrenal hyperplasia, in blood by atmospheric pressure chemical ionization and electrospray ionization using multiple reaction monitoring

Simone Cristoni, Debora Cuccato, Mariateresa Sciannamblo, Luigi Rossi Bernardi, Ida Biunno, Piermario Gerthoux, Gianni Russo, Giovanna Weber, Stefano Mora

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)77-82
Number of pages6
JournalRapid Communications in Mass Spectrometry
Volume18
Issue number1
Publication statusPublished - 2004

ASJC Scopus subject areas

  • Analytical Chemistry
  • Spectroscopy

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