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. 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.
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Direct biochemical analysis of steroids in blood samples using LC-MS/MS can obviate the specificity problems of immunoassays.
“Direct biochemical analysis of steroids in blood samples using LC-MS/MS can obviate the specificity problems of immunoassays (263-265)”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [264]
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Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Claahsen - van der Grinten, H. L., Speiser, P. W., Ahmed, S. F., Arlt, W., Auchus, R. J., Falhammar, H., Flück, C. E., Guasti, L., Huebner, A., Kortmann, B. B. M., et al. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnab016 · Cited by 556 · see citing works
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Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia
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Self-citationGrecsó, N., Zádori, A., Szécsi, I., Baráth, Á., Galla, Z., Bereczki, C., & Monostori, P. (2020) · PLoS ONE · doi:10.1371/journal.pone.0233724 · Cited by 26 · see citing works
- Authors
- Boelen, A., Ruiter, A. F., Claahsen-van der Grinten, H. L., Endert, E., & Ackermans, M. T.
- Affiliations
- Amsterdam UMC Location University of Amsterdam (NL)
- Radboud University Medical Center, Department of Pediatric Endocrinology, Nijmegen, The Netherlands
- Department of Clinical Chemistry, Laboratory of Endocrinology, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105AZ, The Netherlands
- Venue
- Bioanalysis
- Publisher
- Informa UK Limited
- Published
- 2016-02-19
- Volume
- 8
- Issue
- 5
- Pages
- 375-384
- ISSN
- 1757-6180 (ISSN-L)
- 1757-6199
- OpenAlex
- W2275971532
- Cited by
- 49
- References
- 16
- Citations by year
- 2026: 3 · 2025: 5 · 2024: 4 · 2023: 6 · 2022: 4 · 2021: 10 · 2020: 4 · 2019: 6 · 2018: 5 · 2017: 2
- FWCI
- 2.25
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Bioanalysis (publishedVersion)
- PubMed (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Keywords
- congenital adrenal hyperplasia, newborn screening, dried blood spots, steroid profiling, 21-deoxycortisol, second-tier testing, cortisol, 17-hydroxyprogesterone, corticosterone, deoxycorticosterone, steroid precursors
- MeSH terms
- Adrenal Hyperplasia, Congenital, Chromatography, Liquid, Heel, Humans, Infant, Newborn, Sensitivity and Specificity, Steroids, Neonatal Screening, 17-alpha-Hydroxyprogesterone, Tandem Mass Spectrometry
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