Cited by 211Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

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Newborn Screening for Congenital Adrenal Hyperplasia: Additional Steroid Profile using Liquid Chromatography-Tandem Mass Spectrometry

Janzen, N., Peter, M., Sander, S., Steuerwald, U., Terhardt, M., Holtkamp, U., Sander, J.·2007·The Journal of Clinical Endocrinology & Metabolism

DOI 10.1210/jc.2006-2890

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Abstract

Background: Neonatal screening programs for congenital adrenal hyperplasia (21-CAH) using an immunoassay for 17α-hydroxyprogesterone (17-OHP) generate a high rate of positive results attributable to physiological reasons and to cross-reactions with steroids other than 17α-OHP, especially in preterm neonates and in critically ill newborns. Methods: To increase the specificity of the screening process, we applied a liquid chromatography-tandem mass spectrometry method quantifying 17α-OHP, 11-deoxycortisol, 21-deoxycortisol, cortisol, and androstenedione. The steroids were eluted in aqueous solution containing d8-17α-OHP and d2-cortisol and quantified in multiple reaction mode. Results: Detection limit was below 1 nmol/liter, and recovery ranged from 64% (androstenedione) to 83% (cortisol). Linearity was proven within a range of 5–100 nmol/liter (cortisol, 12.5–200 nmol/liter), and total run time was 6 min. Retrospective analysis of 6151 blood samples and 50 blood samples from newborns with clinically confirmed 21-CAH, as well as prospective analysis of 1609 samples of a total of 242,500 testing positive in our routine 17-OHP immunoassay, allowed clear distinction of affected and nonaffected newborns. High levels of 21-deoxycortisol were only found in children with 21-hydroxylase deficiency. Calculating the ratio of 17α-OHP to 21-deoxycortisol divided by cortisol further increased the sensitivity of the method. Conclusion: Our liquid chromatography-tandem mass spectrometry procedure as a second-tier test can be used to reduce false-positive results of standard 21-CAH screening. The short total run time of 6 min allows for immediate reanalysis of all immunoassay results above the cutoff.

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Authors: Janzen, N., Peter, M., Sander, S., Steuerwald, U., Terhardt, M., Holtkamp, U., & Sander, J.
Affiliations: Screening-Labor Hannover, D-30430 Hannover, Germany
Corresponding author: Janzen, N.
ORCID: Janzen, N.
Steuerwald, U.
Terhardt, M.
Sander, J.
Venue: The Journal of Clinical Endocrinology & Metabolism
Publisher: The Endocrine Society
Published: 2007-07-01
Volume: 92
Issue: 7
Pages: 2581-2589
ISSN: 0021-972X (ISSN-L)
1945-7197
DOI: 10.1210/jc.2006-2890
OpenAlex: W1984703540
Cited by: 211
References: 26
Citations by year: 2026: 11 · 2025: 7 · 2024: 6 · 2023: 12 · 2022: 9 · 2021: 23 · 2020: 9 · 2019: 12 · 2018: 3 · 2017: 7 · 2016: 6 · 2015: 12 · 2014: 9 · 2013: 15 · 2012: 7
FWCI: 6.33
Type: journal article
Language: en
Open access: closed
Locations: The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
PubMed (publishedVersion)
Topics: Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Keywords: congenital adrenal hyperplasia, 21-hydroxylase deficiency, newborn screening, 17-hydroxyprogesterone, 21-deoxycortisol, 11-deoxycortisol, cortisol, androstenedione, steroid profile, false positives, immunoassay cross-reactivity, LC-MS/MS
MeSH terms: Adrenal Hyperplasia, Congenital, Androstenedione, Calibration, Chromatography, High Pressure Liquid, Cortodoxone, False Positive Reactions, Female, Humans, Hydrocortisone, Infant, Newborn, Infant, Premature, Male, Prospective Studies, Retrospective Studies, Reproducibility of Results, Neonatal Screening, 17-alpha-Hydroxyprogesterone, Tandem Mass Spectrometry

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Newborn Screening for Congenital Adrenal Hyperplasia: Additional Steroid Profile using Liquid Chromatography-Tandem Mass Spectrometry

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