Determination of a steroid profile in heel prick blood using LC-MS/MS

作者：Boelen Anita^*; Ruiter An F C; Claahsen van der Grinten Hedi L; Endert Erik; Ackermans Mariette T

来源：Bioanalysis, 2016, 8(5): 375-384.

DOI：10.4155/bio.16.6

• 21-hydroxylase deficiency
• DBS
• dutch neonatal screening program
• gestational age
• MRM
• reference range

Background: The aim of this study was to improve the sensitivity of the congenital adrenal hyperplasia (CAH) neonatal screening by including second-tier steroid profiling on a DBS using LC-MS. Results: We developed a method to measure the steroid profile in DBS and established gestational age-specific reference ranges of cortisol, cortisone, 11-deoxycortisol, 21-deoxycortisol, 17-hydroxyprogesterone, testosterone, Delta 4-androstenedione, corticosterone and 11-deoxycorticosterone using 450 heel prick samples of neonates, participating in the Dutch Screening Program. Analyzing 92 cards with a positive CAH screening showed that only 21-deoxycortisol was 100% specific for diagnosed CAH patients. Conclusion: Steroid precursors can be measured in DBS and we suggest to implement the method as a second tier testing for CAH in The Netherlands.

• 出版日期2016