Dried blood spot testing for seven steroids using liquid chromatography-tandem mass spectrometry with reference interval determination in the Korean population
Open accessAbstract
BACKGROUND: Conventional screening for congenital adrenal hyperplasia (CAH) using immunoassays generates a large number of false-positive results. A more specific liquid chromatography-tandem mass spectrometry (LC-MS/MS) method has been introduced to minimize unnecessary follow-ups. However, because of limited data on its use in the Korean population, LC-MS/MS has not yet been incorporated into newborn screening programs in this region. The present study aims to develop and validate an LC-MS/MS method for the simultaneous determination of seven steroids in dried blood spots (DBS) for CAH screening, and to define age-specific reference intervals in the Korean population. METHODS: We developed and validated an LC-MS/MS method to determine the reference intervals of cortisol, 17-hydroxyprogesterone, 11-deoxycortisol, 21-deoxycortisol, androstenedione, corticosterone, and 11-deoxycorticosterone simultaneously in 453 DBS samples. The samples were from Korean subjects stratified by age group (78 full-term neonates, 76 premature neonates, 89 children, and 100 adults). RESULTS: The accuracy, precision, matrix effects, and extraction recovery were satisfactory for all the steroids at three concentrations; values of intra- and inter-day precision coefficients of variance, bias, and recovery were 0.7-7.7%, -1.5-9.8%, and 49.3-97.5%, respectively. The linearity range was 1-100 ng/mL for cortisol and 0.5-50 ng/mL for other steroids (R²>0.99). The reference intervals were in agreement with the previous reports. CONCLUSIONS: This LC-MS/MS method and the reference intervals validated in the Korean population can be successfully applied to analyze seven steroids in DBS for the diagnosis of CAH.
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No other problems are seen at follow-up in offspring of women with CAH.
“In the offspring, the rate for small-for-gestational-age seems to be increased in some (365), but not all (659) studies, and no other problems are seen at follow-up (670).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [670]
The Introduction and Discussion address newborn CAH screening, steroid testing, and follow-up of patients with CAH—not follow-up outcomes in offspring of women with CAH. Searches for maternal CAH, pregnancy, and offspring outcomes found no passage addressing whether those offspring had other problems. (LLM, conf=0.75)
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Cites
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“[16]: red blood cells were washed thrice with saline, and then diluted with steroid-free serum to obtain a hematocrit of 55%.”
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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
- Authors
- Kim, B., Lee, M.-N., Park, H.-D., Kim, J. W., Chang, Y. S., Park, W. S., & Lee, S.-Y.
- Affiliations
- Samsung Medical Center (KR)
- Corresponding author
- Lee, Soo-Youn
- Venue
- Annals of Laboratory Medicine
- Publisher
- Annals of Laboratory Medicine
- Published
- 2015-11-01
- Volume
- 35
- Issue
- 6
- Pages
- 578-585
- ISSN
- 2234-3806 (ISSN-L)
- 2234-3814
- PMC
- PMC4579101
- OpenAlex
- W2157068607
- Cited by
- 32
- References
- 6
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 1 · 2023: 6 · 2022: 2 · 2021: 5 · 2020: 2 · 2019: 6 · 2018: 3 · 2017: 3 · 2016: 2
- FWCI
- 1.16
- Type
- journal article
- Language
- en
- Open access
- diamond
- doi.org
- Licence
- Locations
- Annals of Laboratory Medicine (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- Funders
- Ministry of Health and Welfare (A120030)
- 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, newborn screening, dried blood spots, steroid hormone measurement, cortisol, 17-hydroxyprogesterone, 11-deoxycortisol, 21-deoxycortisol, androstenedione, corticosterone, deoxycorticosterone, reference values, Korean population, LC-MS/MS method validation
- MeSH terms
- Adult, Child, Chromatography, High Pressure Liquid, Female, Humans, Infant, Newborn, Infant, Premature, Male, Reference Values, Steroids, Asian People, Tandem Mass Spectrometry, Republic of Korea, Dried Blood Spot Testing
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