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

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Title:	Determination of a steroid profile in heel prick blood using LC-MS/MS
Author(s):	Boelen, A.; Ruiter, A.F.; Claahsen-van der Grinten, H.L. ; Endert, E.; Ackermans, M.T.
Publication year:	2016
Source:	Bioanalysis, vol. 8, iss. 5, (2016), pp. 375-384
ISSN:	1757-6180
DOI:	http://dx.doi.org/10.4155/bio.16.6
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/172289
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Subject:	Radboudumc 16: Vascular damage RIMLS: Radboud Institute for Molecular Life Sciences
Organization:	Paediatrics
Journal title:	Bioanalysis
Volume:	vol. 8
Issue:	iss. 5
Page start:	p. 375
Page end:	p. 384
Abstract:	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, Delta4-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.