Anita Boelen1, An F C Ruiter1, Hedi L Claahsen-van der Grinten2, Erik Endert1, Mariette T Ackermans1. 1. Department of Clinical Chemistry, Laboratory of Endocrinology, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105AZ, The Netherlands. 2. Radboud University Medical Center, Department of Pediatric Endocrinology, Nijmegen, The Netherlands.
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, Δ4-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.
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, Δ4-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.
Authors: Hedi L Claahsen-van der Grinten; Phyllis W Speiser; S Faisal Ahmed; Wiebke Arlt; Richard J Auchus; Henrik Falhammar; Christa E Flück; Leonardo Guasti; Angela Huebner; Barbara B M Kortmann; Nils Krone; Deborah P Merke; Walter L Miller; Anna Nordenström; Nicole Reisch; David E Sandberg; Nike M M L Stikkelbroeck; Philippe Touraine; Agustini Utari; Stefan A Wudy; Perrin C White Journal: Endocr Rev Date: 2022-01-12 Impact factor: 19.871
Authors: Mark R de Hora; Natasha L Heather; Tejal Patel; Lauren G Bresnahan; Dianne Webster; Paul L Hofman Journal: Int J Neonatal Screen Date: 2020-01-28
Authors: Libby M Morimoto; David Zava; Katherine A McGlynn; Frank Z Stanczyk; Alice Y Kang; Xiaomei Ma; Joseph L Wiemels; Catherine Metayer Journal: Cancer Epidemiol Biomarkers Prev Date: 2018-02-23 Impact factor: 4.090