How Many Deaths Can Be Prevented by Newborn Screening for Congenital Adrenal Hyperplasia?
Abstract
Background/Aims: Congenital adrenal hyperplasia (CAH) is increasingly being included in newborn screening programs. Screening can prevent neonatal mortality in children with salt-wasting CAH, but the number of deaths prevented is not known. Cost-effectiveness analyses of screening require estimates of the probability of mortality in CAH. Methods: We reviewed the literature to identify cohort studies of children with CAH ascertained clinically in the absence of screening. We abstracted the numbers of infant deaths attributable to CAH. We also addressed sex ratios among children with clinically detected CAH and the contribution of ascertainment bias to unbalanced ratios. Results: The evidence suggests a probability of infant death due to adrenal crises in salt-wasting CAH of 4% or less in contemporary advanced economies without screening for CAH. This is lower than previous estimates, although the rate of mortality could be considerably higher in populations with limited clinical awareness or access. Conclusion: Although screening for CAH is conducted in a number of countries, further research is still needed to provide reliable estimates on the numbers of prevented deaths, along with evidence-based assessments of the potential benefits, harms, and costs of screening.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Infants ascertained through screening have less severe hyponatremia and shorter hospitalizations.
“Infants ascertained through screening have less severe hyponatremia and shorter hospitalizations (238,242,246,247).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [242]
Cites
Pang, S., Wallace, M. A., Hofman, L., Thuline, H. C., Dorche, C., Lyon, I. C. T., Dobbins, R. H., Kling, S., Fujieda, K., & Suwa, S. (1988) · Journal of Urology · doi:10.1016/s0022-5347(17)42164-1 · Cited by 392 · see citing works
Therrell, B. L., Berenbaum, S. A., Manter-Kapanke, V., Simmank, J., Korman, K., Prentice, L., Gonzalez, J., & Gunn, S. (1998) · Pediatrics · doi:10.1542/peds.101.4.583 · Cited by 344 · see citing works
PANG, S., HOTCHKISS, J., DRASH, A. L., LEVINE, L. S., & NEW, M. I. (1977) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-45-5-1003 · Cited by 293 · see citing works
Newborn screening for congenital adrenal hyperplasia
Therrell, B. L. (2001) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/s0889-8529(08)70017-3 · Cited by 221 · see citing works
An update of congenital adrenal hyperplasia
NEW, M. I. (2004) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1315.009 · Cited by 178 · see citing works
Thilén, A., Nordenström, A., Hagenfeldt, L., von Döbeln, U., Guthenberg, C., & Larsson, A. (1998) · PEDIATRICS · doi:10.1542/peds.101.4.e11 · Cited by 151 · see citing works
Newborn Screening for Congenital Adrenal Hyperplasia inthe Netherlands
Van der Kamp, H. J., Noordam, K., Elvers, B., Van Baarle, M., Otten, B. J., & Verkerk, P. H. (2001) · PEDIATRICS · doi:10.1542/peds.108.6.1320 · Cited by 86 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Speiser, P. W., Azziz, R., Baskin, L. S., Ghizzoni, L., Hensle, T. W., Merke, D. P., Meyer-Bahlburg, H. F. L., Miller, W. L., Montori, V. M., Oberfield, S. E., et al. (2010) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2009-2631 · Cited by 1,484 · see citing works
Speiser, P. W., Arlt, W., Auchus, R. J., Baskin, L. S., Conway, G. S., Merke, D. P., Meyer-Bahlburg, H. F. L., Miller, W. L., Murad, M. H., Oberfield, S. E., et al. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-01865 · Cited by 1,234 · see citing works
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
Neonatal screening for congenital adrenal hyperplasia
White, P. C. (2009) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2009.148 · Cited by 240 · see citing works
Frequency and causes of adrenal crises over lifetime in patients with 21-hydroxylase deficiency
Reisch, N., Willige, M., Kohn, D., Schwarz, H.-P., Allolio, B., Reincke, M., Quinkler, M., Hahner, S., & Beuschlein, F. (2012) · European Journal of Endocrinology · doi:10.1530/eje-12-0161 · Cited by 136 · see citing works
Baumgartner-Parzer, S., Witsch-Baumgartner, M., & Hoeppner, W. (2020) · European Journal of Human Genetics · doi:10.1038/s41431-020-0653-5 · Cited by 110 · see citing works
Congenital adrenal hyperplasia: time to replace 17OHP with 21-deoxycortisol
Miller, W. L. (2019) · Hormone Research in Paediatrics · doi:10.1159/000501396 · Cited by 93 · see citing works
Jenkins-Jones, S., Parviainen, L., Porter, J., Withe, M., Whitaker, M. J., Holden, S. E., Morgan, C. L., Currie, C. J., & Ross, R. J. M. (2018) · European Journal of Endocrinology · doi:10.1530/eje-17-0895 · Cited by 85 · see citing works
Newborn screening for congenital adrenal hyperplasia in New Zealand, 1994-2013
Heather, N. L., Seneviratne, S. N., Webster, D., Derraik, J. G. B., Jefferies, C., Carll, J., Jiang, Y., Cutfield, W. S., & Hofman, P. L. (2015) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-3168 · Cited by 65 · see citing works
Congenital adrenal hyperplasia and the second newborn screen
Chan, C. L., McFann, K., Taylor, L., Wright, D., Zeitler, P. S., & Barker, J. M. (2013) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2013.01.002 · Cited by 46 · see citing works
Sanches, S. A., Wiegers, T. A., Otten, B. J., & Claahsen-van der Grinten, H. L. (2012) · International Journal of Pediatric Endocrinology · doi:10.1186/1687-9856-2012-2 · Cited by 38 · see citing works
The cost effectiveness of screening newborns for congenital adrenal hyperplasia
Yoo, B. K., & Grosse, S. D. (2009) · Public Health Genomics · doi:10.1159/000156115 · Cited by 37 · see citing works
Self-citationEvaluation of the Dutch neonatal screening for congenital adrenal hyperplasia
van der Linde, A. A. A., Schönbeck, Y., van der Kamp, H. J., van den Akker, E. L. T., van Albada, M. E., Boelen, A., Finken, M. J. J., Hannema, S. E., Hoorweg-Nijman, G., Odink, R. J., et al. (2019) · Archives of Disease in Childhood · doi:10.1136/archdischild-2018-315972 · Cited by 32 · see citing works
Hypoglycaemia in adrenal insufficiency
Lee, S. C., Baranowski, E. S., Sakremath, R., Saraff, V., & Mohamed, Z. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1198519 · Cited by 32 · see citing works
“Data from patients with CAH showed mortality rates in developed countries vary between 0 to 4% (44).”
BackgroundRushworth, R. L., Falhammar, H., Munns, C. F., Maguire, A. M., & Torpy, D. J. (2016) · International Journal of Endocrinology · doi:10.1155/2016/5748264 · Cited by 30 · see citing works
Hird, B. E., Tetlow, L., Tobi, S., Patel, L., & Clayton, P. E. (2014) · Archives of Disease in Childhood · doi:10.1136/archdischild-2013-304473 · Cited by 25 · see citing works
- Authors
- Grosse, S. D., & Van Vliet, G.
- Affiliations
- Centers for Disease Control and Prevention (US)
- ORCID
- Grosse, Scott D.
- Venue
- Hormone Research in Paediatrics
- Publisher
- S. Karger AG
- Published
- 2007
- Volume
- 67
- Issue
- 6
- Pages
- 284-291
- ISSN
- 1663-2818 (ISSN-L)
- 1663-2826
- OpenAlex
- W2010100823
- Cited by
- 102
- References
- 7
- Citations by year
- 2026: 2 · 2025: 3 · 2023: 6 · 2022: 3 · 2021: 9 · 2020: 7 · 2019: 6 · 2018: 6 · 2017: 3 · 2016: 7 · 2015: 3 · 2014: 5 · 2013: 5 · 2012: 8
- FWCI
- 0.45
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Hormone Research in Paediatrics (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, newborn screening, salt-wasting CAH, infant mortality, adrenal crisis, mortality prevention, sex ratio, ascertainment bias, cost-effectiveness
- MeSH terms
- Adrenal Hyperplasia, Congenital, Female, Humans, Infant, Newborn, Male, Mass Screening, Sex Characteristics, Neonatal Screening
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
