Cases of congenital adrenal hyperplasia missed by newborn screening in Minnesota
Abstract
Recent studies have focused on possible positive health implications of certain ruminant TFAs. 3 In particular, moderate consumption of ruminant TFAs was not associated with a significant increase in cardiovascular risk, although further studies are needed to understand the implications of various TFA isomers. 3 In addition, certain ruminant TFAs, including vaccenic acid and C9,T11-CLA, have been shown to have cancer-protective factors in animal models, although human studies are limited. 3 More data are needed to determine if the changes in TFA levels may be attributed primarily to the 2003 legislative changes.It would be particularly interesting to see data regarding plasma content of TFAs before and after regional trans-fat bans.Additionally, although the 2003 legislation required labeling for TFAs, there is still a significant amount of TFA content in food products; plasma profiles may be further improved with improved TFA labeling.
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Female infants have lower mean circulating 17OHP levels than males, slightly reducing screening sensitivity.
“Female infants have lower mean circulating 17OHP levels than males, slightly reducing screening sensitivity (260).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [260]
Cites
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Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
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Biochemical and genetic diagnosis of 21-hydroxylase deficiency
Falhammar, H., Wedell, A., & Nordenström, A. (2015) · Endocrine · doi:10.1007/s12020-015-0731-6 · Cited by 80 · see citing works
Profiles of 21-Carbon Steroids in 21-Hydroxylase Deficiency
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Congenital adrenal hyperplasia and the second newborn screen
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Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states
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Comparison of newborn screening protocols for congenital adrenal hyperplasia in preterm infants
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Self-citationClinical impact and cost efficacy of newborn screening for congenital adrenal hyperplasia
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Application of principal component analysis to newborn screening for congenital adrenal hyperplasia
Lasarev, M. R., Bialk, E. R., Allen, D. B., & Held, P. K. (2020) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaa371 · Cited by 19 · see citing works
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- Authors
- Sarafoglou, K., Banks, K., Kyllo, J., Pittock, S., & Thomas, W.
- Affiliations
- University of Minnesota (US)
- Minnesota Department of Health (US)
- Children's Minnesota (US)
- Venue
- JAMA
- Publisher
- American Medical Association (AMA)
- Published
- 2012-06-13
- Volume
- 307
- Issue
- 22
- Pages
- 2371-4
- ISSN
- 0002-9955 (ISSN-L)
- 0098-7484
- OpenAlex
- W1984910682
- Cited by
- 62
- References
- 6
- Citations by year
- 2026: 3 · 2025: 5 · 2024: 5 · 2023: 4 · 2022: 6 · 2021: 4 · 2020: 8 · 2019: 3 · 2018: 1 · 2017: 4 · 2016: 4 · 2015: 5 · 2014: 5 · 2013: 3 · 2012: 1
- FWCI
- 1.80
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- JAMA (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Mayo Clinic
- Minnesota Department of Health
- University of Minnesota
- 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, missed diagnosis
- MeSH terms
- Adrenal Hyperplasia, Congenital, Diagnostic Errors, False Negative Reactions, Female, Humans, Infant, Newborn, Male, Minnesota, Progesterone, Retrospective Studies, Disorders of Sex Development, Neonatal Screening
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