Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry
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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Nonclassic SCC deficiency has been described with delayed adrenal insufficiency onset and variable gonadal effect, caused by mutations corresponding to 7-30% of retained enzyme activity.
“Similar to nonclassic lipoid CAH, nonclassic SCC deficiency has been described with delayed adrenal insufficiency onset and variable gonadal effect, caused by mutations corresponding to 7-30% of retained enzyme activity.[55][56][57][58]”
From Congenital adrenal hyperplasia (2017) · cites this paper as [55]
Liquid chromatography-tandem mass spectrometry run times are 6 to 12 minutes, impractical for screening large numbers of samples but suitable for second-tier screening of the original dried blood samples.
“The run times for individual samples in such assays are 6 to 12 minutes, impractical for screening large numbers of samples, but suitable for the smaller numbers subjected to a secondtier screen using the original dried blood samples (78,80).”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [80]
A modified liquid chromatography-tandem mass spectrometry protocol using a ratio of the sum of 17-hydroxyprogesterone and 21-deoxycortisol divided by cortisol correctly identified all affected children with no false positives, for a positive predictive value of 100%.
“A modified LC-MS/MS protocol used a ratio defined as the sum of 17OHP and 21-deoxycortisol levels divided by the cortisol level, and this parameter correctly identified all affected children with no false positives, for a positive predictive value of 100% (80).”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [80]
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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.
- 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
- 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
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › 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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