title: Determination of a steroid profile in heel prick blood using LC-MS/MS.
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.
  
  
  CONCLUSIONS
  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.affiliation: Department of Clinical Chemistry, Laboratory of Endocrinology, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105AZ, The Netherlands.
authors.forename: Anita
authors.initials: A
authors.lastname: Boelen
authors.affiliation: Department of Clinical Chemistry, Laboratory of Endocrinology, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105AZ, The Netherlands.
authors.forename: An F C
authors.initials: AF
authors.lastname: Ruiter
authors.affiliation: Radboud University Medical Center, Department of Pediatric Endocrinology, Nijmegen, The Netherlands.
authors.forename: Hedi L
authors.initials: HL
authors.lastname: Claahsen-van der Grinten
authors.affiliation: Department of Clinical Chemistry, Laboratory of Endocrinology, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105AZ, The Netherlands.
authors.forename: Erik
authors.initials: E
authors.lastname: Endert
authors.affiliation: Department of Clinical Chemistry, Laboratory of Endocrinology, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105AZ, The Netherlands.
authors.forename: Mariette T
authors.initials: MT
authors.lastname: Ackermans
mesh_terms: D019326:17-alpha-Hydroxyprogesterone / Q000097:blood*; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood* / Q000175:diagnosis; D002853:Chromatography, Liquid / Q000379:methods; D006365:Heel / Q000098:blood supply; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000379:methods*; D012680:Sensitivity and Specificity; D013256:Steroids / Q000097:blood*; D053719:Tandem Mass Spectrometry / Q000379:methods*
chemical_list: D013256:Steroids; D019326:17-alpha-Hydroxyprogesterone
keywords: 21-hydroxylase deficiency; DBS; MRM; dutch neonatal screening program; gestational age; reference range