The DOI matches its Crossref record; 68 of the 70 references it cites were found in a registry or an index.
Screening for congenital hypothyroidism: A worldwide view of strategies
Abstract
Detection by newborn screening (NBS) and treatment of babies with congenital hypothyroidism (CH) has largely eliminated the intellectual disability caused by this disorder. Lowering of the screening TSH cutoff and changes in birth demographics have been associated with an approximate doubling of the incidence of CH, from 1:3500 to 1:1714. The additional cases detected by lowering of the TSH cutoff tend to have milder hypothyroidism, with imaging often demonstrating a eutopic, "gland in-situ", and some cases turn out to have transient CH. Based on our search for current screening programs, approximately 71 percent of babies worldwide are not born in an area with an established NBS program, despite the existence of screening for over five decades in developed countries. Thus, the majority of babies with CH worldwide are not detected and treated early, such that the economic burden of retardation owing to CH remains a significant public health challenge.
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In the citing paper
“Delayed treatment in congenital hypothyroidism can lead to permanent brain damage.”
From Risks of suboptimal and excessive thyroid hormone replacement across ages (2023) · cites this paper as [19]
In the citing paper
“Therefore, children still develop cretinism [19].”
From Risks of suboptimal and excessive thyroid hormone replacement across ages (2023) · cites this paper as [19]
In the citing paper
“However, despite the available dried blood spots technology since the early 1970s, approximately 70% of the world’s population does not have access to it.”
From Risks of suboptimal and excessive thyroid hormone replacement across ages (2023) · cites this paper as [19]
In the citing paper
“Despite the benefits of neonatal screening, 70% of infants worldwide are born in areas that do not have access to neonatal screening (6).”
In the citing paper
“In addition, many of these infants are born in areas of endemic iodine deficiency, placing them at increased risk of TH deficiency.”
Citations
Cites
Epidemiology of mucopolysaccharidoses
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Update of Newborn Screening and Therapy for Congenital Hypothyroidism
Rose, S. R., Brown, R. S., & Lawson Wilkins Pediatric Endocrine Society (2006) · PEDIATRICS · doi:10.1542/peds.2006-0915 · Cited by 801
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Self-citationRose, S. J. (1991) · Archives of Disease in Childhood · doi:10.1136/adc.66.8.1000 · Cited by 541
Preliminary report on a mass screening program for neonatal hypothyroidism
Dussault, J. H., Coulombe, P., Laberge, C. M., Letarte, J., Guyda, H. J., & Khoury, K. (1975) · The Journal of Pediatrics · doi:10.1016/s0022-3476(75)80349-0 · Cited by 358
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Grosse, S. D., Matte, T., Schwartz, J. D., & Jackson, R. J. (2002) · Environmental Health Perspectives · doi:10.1289/ehp.02110563 · Cited by 335
Improved prognosis in congenital bypothyroidism treated before age three months
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Increase in congenital hypothyroidism in New York State and in the United States
Harris, K. B., & Pass, K. A. (2007) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2007.03.012 · Cited by 269
Neonatal screening in Europe; the situation in 2004
Loeber, J. G. (2007) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-007-0644-5 · Cited by 251
Research works printed but not linked: 1
- Loeber JG. Development of a global neonatal screening database. 2008 Newborn screening and genetic testing symposium; 2008, Nov 3–6. Available from: http://www.aphl.org/conferences/proceedings/Documents/2008%20_APHL_NBS_and_Genetics_Testing_Symposium.
Cited by
Sorted by citations
Alexander, E. K., Pearce, E. N., Brent, G. A., Brown, R. S., Chen, H., Dosiou, C., Grobman, W. A., Laurberg, P., Lazarus, J. H., Mandel, S. J., et al. (2017) · Thyroid® · doi:10.1089/thy.2016.0457 · Cited by 2,731
“Screening programs are also being introduced in many developing countries, accounting overall for approximately one third of the world’s population (521).”
BackgroundGlobal epidemiology of hyperthyroidism and hypothyroidism
Taylor, P. N., Albrecht, D., Scholz, A., Gutierrez-Buey, G., Lazarus, J. H., Dayan, C. M., & Okosieme, O. E. (2018) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2018.18 · Cited by 1,552
van Trotsenburg, P., Stoupa, A., Léger, J., Rohrer, T., Peters, C., Fugazzola, L., Cassio, A., Heinrichs, C., Beauloye, V., Pohlenz, J., et al. (2021) · Thyroid® · doi:10.1089/thy.2020.0333 · Cited by 469
“Despite the benefits of neonatal screening, 70% of infants worldwide are born in areas that do not have access to neonatal screening (6).”
BackgroundChaker, L., Razvi, S., Bensenor, I. M., Azizi, F., Pearce, E. N., & Peeters, R. P. (2022) · Nature Reviews Disease Primers · doi:10.1038/s41572-022-00357-7 · Cited by 330
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives
Peters, C., van Trotsenburg, A. S. P., & Schoenmakers, N. (2018) · European Journal of Endocrinology · doi:10.1530/eje-18-0383 · Cited by 162
Metadata
- Authors
- Ford, G., & LaFranchi, S. H.
- Affiliations
- Oregon Health & Science University (US)
- Corresponding author
- LaFranchi, Stephen H.
- Venue
- Best Practice & Research Clinical Endocrinology & Metabolism
- Publisher
- Elsevier BV
- Published
- 2014-03
- Volume
- 28
- Issue
- 2
- Pages
- 175-187
- ISSN
- 1521-690X (ISSN-L)
- OpenAlex
- W2040203752
- Cited by
- 274
- References
- 70
- Citations by year
- 2026: 12 · 2025: 25 · 2024: 19 · 2023: 31 · 2022: 28 · 2021: 43 · 2020: 30 · 2019: 14 · 2018: 22 · 2017: 19 · 2016: 15 · 2015: 11 · 2014: 4
- FWCI
- 1.47
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Best Practice & Research Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Thyroid Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- congenital hypothyroidism, newborn screening, screening incidence, intellectual disability, transient hypothyroidism, screening coverage, thyroid imaging
- MeSH terms
- Cost-Benefit Analysis, Congenital Hypothyroidism, Developing Countries, Humans, Infant, Infant, Newborn, Intellectual Disability, Thyrotropin, Thyroxine, Incidence, Neonatal Screening
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