Screening for congenital adrenal hyperplasia: the Delfia Screening Test overestimates serum 17-hydroxyprogesterone in preterm infants
Abstract
OBJECTIVE: To compare 17-hydroxyprogesterone (17-OHP) levels measured by quantitative serum radioimmunoassay (RIA), including an extraction step, and by screening fluoroimmunoassay (FIA) on blood spots in preterm infants. METHODS: Subjects were 39 healthy infants born at less than 31 weeks' gestational age. Each infant had weekly blood sampling, and RIA and FIA were performed on each sample. RESULTS: Two hundred twenty-seven samples were taken at 28 to 41 weeks' postconceptional age. Mean +/- SD 17-OHP measured by RIA was 11.4 +/- 11.1 nmol/L (0.4 +/- 0.4 micrograms/dL), and decreased over time. Mean +/- SD 17-OHP measured by FIA was 38.96 +/- 37.3 nmol/L, greater than 17-OHP (RIA). Log(delta FIA-RIA) was inversely related to postconceptional age (R2 = .39). CONCLUSION: Screening FIA of blood spots overestimates levels of 17-OHP in preterm infants and should not be used to determine the likelihood of congenital adrenal hyperplasia in this population. We have abandoned FIA screening for congenital adrenal hyperplasia in infants weighing less than 1500 g.
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Cross-reactivity has been documented with 17-OH pregnenolone sulfate, a steroid originating in extremely high amounts from the fetal zone of the fetal adrenal, and 15β-hydroxylated compounds apparently generated by gut bacteria and resorbed through the entero-hepatic circulation.
“Cross-reactivity has been documented with 17-OH pregnenolone sulfate, a steroid originating in extremely high amounts from the fetal zone of the fetal adrenal (285), and 15β-hydroxylated compounds apparently generated by gut bacteria and resorbed through the entero-hepatic circulation (286).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [286]
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- Authors
- Saedi, S. A., Dean, H., Dent, W., Stockl, E., & Cronin, C.
- Affiliations
- University of Manitoba (CA)
- ORCID
- Cronin, Catherine
- Venue
- PEDIATRICS
- Publisher
- American Academy of Pediatrics (AAP)
- Published
- 1996-01-01
- Volume
- 97
- Issue
- 1
- Pages
- 100-102
- ISSN
- 0031-4005 (ISSN-L)
- 1098-4275
- OpenAlex
- W1562872395
- Cited by
- 55
- References
- 0
- Citations by year
- 2022: 1 · 2021: 3 · 2020: 1 · 2019: 1 · 2018: 2 · 2017: 2 · 2016: 1 · 2015: 2 · 2014: 1 · 2013: 2 · 2012: 1
- FWCI
- 1.02
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- PEDIATRICS (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, 17-hydroxyprogesterone, newborn screening, preterm infants, fluorescence immunoassay, radioimmunoassay, assay overestimation, postconceptional age
- MeSH terms
- Adrenal Hyperplasia, Congenital, Age Factors, Female, Humans, Hydroxyprogesterones, Infant, Newborn, Infant, Premature, Male, Radioimmunoassay, Fluoroimmunoassay, Reproducibility of Results, Bias, Neonatal Screening, 17-alpha-Hydroxyprogesterone
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