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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.”
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Cites
Epidemiology of mucopolysaccharidoses
Khan, S. A., Peracha, H., Ballhausen, D., Wiesbauer, A., Rohrbach, M., Gautschi, M., Mason, R. W., Giugliani, R., Suzuki, Y., Orii, K. E., et al. (2017) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2017.05.016 · Cited by 1,096
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
Vulsma, T., Gons, M. H., & de Vijlder, J. J. M. (1989) · New England Journal of Medicine · doi:10.1056/nejm198907063210103 · Cited by 795
Rastogi, M. V., & LAFRANCHI, S. H. (2010) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-5-17 · Cited by 601
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
Economic gains resulting from the reduction in children's exposure to lead in the United States.
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
Klein, A. H., Meltzer, S., & Kenny, F. M. (1972) · The Journal of Pediatrics · doi:10.1016/s0022-3476(72)80542-0 · Cited by 323
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.
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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
Olivieri, A., Fazzini, C., Medda, E., & The Italian Study Group for Congenital Hypothyroidism (2015) · Hormone Research in Paediatrics · doi:10.1159/000369394 · Cited by 132
Wassner, A. J. (2018) · Clinics in Perinatology · doi:10.1016/j.clp.2017.10.004 · Cited by 131
Wassner, A. J., & Brown, R. S. (2015) · Current Opinion in Endocrinology Diabetes and Obesity · doi:10.1097/med.0000000000000181 · Cited by 120
The Role of Iodine for Thyroid Function in Lactating Women and Infants
Andersson, M., & Braegger, C. (2021) · Endocrine Reviews · doi:10.1210/endrev/bnab029 · Cited by 125
“Newborns are routinely screened for congenital hypothyroidism in many countries using neonatal TSH (≥ 20 mIU/L) at 2 to 5 days after birth (70, 80).”
BackgroundLain, S. J., Bentley, J. P., Wiley, V., Roberts, C. L., Jack, M., Wilcken, B., & Nassar, N. (2016) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(16)30122-x · Cited by 106
Congenital hypothyroidism: insights into pathogenesis and treatment
Cherella, C. E., & Wassner, A. J. (2017) · International Journal of Pediatric Endocrinology · doi:10.1186/s13633-017-0051-0 · Cited by 106
“Although this incidence is similar to that of phenylketonuria (1:15,000) [35]—the condition for which newborn screening was originally introduced in the 1960’s—central congenital hypothyroidism cannot be detected by the TSH-based screening strategies used by the majority of the newborn screening programs worldwide [1].”
BackgroundResultAre lower TSH cutoffs in neonatal screening for congenital hypothyroidism warranted?
Lain, S. J., Trumpff, C., Grosse, S. D., Olivieri, A., & Vliet, G. V. (2017) · European Journal of Endocrinology · doi:10.1530/eje-17-0107 · Cited by 98
“Most critical of all, about 70% of the world’s newborns do not benefit from any NBS at all (74).”
Pediatric Hypothyroidism: Diagnosis and Treatment
Wassner, A. J. (2017) · Pediatric Drugs · doi:10.1007/s40272-017-0238-0 · Cited by 95
“Universal newborn screening for congenital hypothyroidism is practiced in many countries [2].”
BackgroundBarry, Y., Bonaldi, C., Goulet, V., Coutant, R., Léger, J., Paty, A.-C., Delmas, D., Cheillan, D., & Roussey, M. (2016) · Annals of Epidemiology · doi:10.1016/j.annepidem.2015.11.005 · Cited by 86
Congenital Hypothyroidism: Screening and Management
Rose, S. R., Wassner, A. J., Wintergerst, K. A., Jones, N. Y., Hopkin, R. J., Chuang, J., Smith, J. R., Abell, K. B., LAFRANCHI, S. H., Wintergerst, K. A., et al. (2022) · PEDIATRICS · doi:10.1542/peds.2022-060420 · Cited by 88
Self-citationTransient hypothyroidism in the newborn: to treat or not to treat
Kanike, N., Davis, A. O., & Shekhawat, P. (2017) · Translational Pediatrics · doi:10.21037/tp.2017.09.07 · Cited by 74
“The goal of NBS is to detect neonates with primary CH; those programs that employ a primary T4-reflex TSH or combined T4 and TSH tests strategy have the potential to detect infants with secondary CH (estimated incidence about 1:25,000) (49).”
BackgroundLiquid and softgel levothyroxine use in clinical practice: state of the art
Virili, C., Trimboli, P., Romanelli, F., & Centanni, M. (2016) · Endocrine · doi:10.1007/s12020-016-1035-1 · Cited by 71
Congenital Hypothyroidism: Screening and Management
Rose, S. R., Wassner, A. J., Wintergerst, K. A., Jones, N. Y., Hopkin, R. J., Chuang, J., Smith, J. R., Abell, K. B., LAFRANCHI, S. H., Wintergerst, K. A., et al. (2022) · PEDIATRICS · doi:10.1542/peds.2022-060419 · Cited by 69
Self-citationDiagnosis and Management of Central Congenital Hypothyroidism
Lauffer, P., Zwaveling‐Soonawala, N., Naafs, J. C., Boelen, A., & van Trotsenburg, A. S. P. (2021) · Frontiers in Endocrinology · doi:10.3389/fendo.2021.686317 · Cited by 79
Update on congenital hypothyroidism
Cherella, C. E., & Wassner, A. J. (2020) · Current Opinion in Endocrinology, Diabetes & Obesity · doi:10.1097/med.0000000000000520 · Cited by 61
“Most newborn screening programs worldwide employ a primary-TSH screening strategy that does not detect central hypothyroidism [25].”
BackgroundIncreased Congenital Hypothyroidism Detection in Preterm Infants with Serial Newborn Screening
Kaluarachchi, D. C., Allen, D. B., Eickhoff, J. C., Dawe, S. J., & Baker, M. W. (2018) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2018.11.044 · Cited by 61
Desai, M. P., Sharma, R., Riaz, I., Sudhanshu, S., Parikh, R., & Bhatia, V. (2018) · The Indian Journal of Pediatrics · doi:10.1007/s12098-017-2575-y · Cited by 60
“It also fails to detect cases of central CH; however, detection of this rare disorder is not the target of mass NBS [23].”
BackgroundPermanent vs Transient Congenital Hypothyroidism: Assessment of Predictive Variables
Oron, T., Lazar, L., Ben-Yishai, S., Tenenbaum, A., Yackobovitch-Gavan, M., Meyerovitch, J., Phillip, M., & Lebenthal, Y. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-00362 · Cited by 54
“Historically, most cases of CH were presumed to be due to thyroid dysgenesis (agenesis or an ectopic gland) (1, 2).”
BackgroundTransient Congenital Hypothyroidism in Turkey: An Analysis on Frequency and Natural Course
Kara, C., Günindi, F., Can Yılmaz, G., & Aydın, M. (2016) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.2345 · Cited by 53
“Many developed countries have largely eliminated intellectual disability caused by CH owing to newborn screening programs (NSPs) (1).”
Ford, G. A., Denniston, S., Sesser, D., Skeels, M. R., & LaFranchi, S. H. (2016) · Hormone Research in Paediatrics · doi:10.1159/000448658 · Cited by 49
Self-citationTuli, G., Munarin, J., Tessaris, D., Matarazzo, P., Einaudi, S., & SANCTIS, L. D. (2020) · Endocrine · doi:10.1007/s12020-020-02370-w · Cited by 43
Thyroid-Stimulating Hormone Reference Ranges for Preterm Infants
Kaluarachchi, D. C., Allen, D. B., Eickhoff, J. C., Dawe, S. J., & Baker, M. W. (2019) · PEDIATRICS · doi:10.1542/peds.2019-0290 · Cited by 43
“Congenital hypothyroidism is 1 of the most commonly diagnosed disease by NBS.1 Congenital hypothyroidism also is a core condition included in the recommended universal screening panel in the United States.2 Approximately 1400 infants in the United States are diagnosed with congenital hypothyroidism each year.3 NBS pro…”
BackgroundConsequences of undertreatment of hypothyroidism
Feldt‐Rasmussen, U., Effraimidis, G., Bliddal, S., & Klose, M. (2023) · Endocrine · doi:10.1007/s12020-023-03460-1 · Cited by 47
“However, despite this available technology since the early 1970s, ~70% of the World ’ s population does not have access to it, and therefore children still develop cretinism [18].”
BackgroundKnowles, R. L., Oerton, J., Cheetham, T. D., Butler, G. E., Cavanagh, C., Tetlow, L. J., & Dezateux, C. A. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-00658 · Cited by 41
“As in our study, Ford and LaFranchi found that US newborns who were identified as presumptive positive CH on the first bloodspot were more likely to be girls and to have permanent CH than those whowere referred on a repeat test (17).”
ResultBlom, M., Zetterström, R. H., Stray‐Pedersen, A., Gilmour, K. C., Gennery, A. R., Puck, J. M., & van der Burg, M. (2021) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2021.08.026 · Cited by 38
Advanced Maternal Age, Mode of Delivery, and Thyroid Hormone Levels in Chinese Newborns
Fan, P., Luo, Z., Tang, N., Wang, W., Liu, Z., Zhang, J., & Ouyang, F. (2020) · Frontiers in Endocrinology · doi:10.3389/fendo.2019.00913 · Cited by 36
“Cord blood TSH was positively correlated to heel prick blood TSH level (55), which is commonly used in neonatal thyroid function screening (10).”
BackgroundLiu, L., He, W., Zhu, J., Deng, K., Tan, H., Xiang, L., Yuan, X., Li, Q., Huang, M., Guo, Y., et al. (2023) · European Journal of Pediatrics · doi:10.1007/s00431-023-04932-2 · Cited by 40
“Before 1980s, most NBS programs were based on the primary T4 assay [39].”
BackgroundGuidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision)
Nagasaki, K., Minamitani, K., Nakamura, A., Kobayashi, H., Numakura, C., Itoh, M., Mushimoto, Y., Fujikura, K., Fukushi, M., & Tajima, T. (2022) · Clinical Pediatric Endocrinology · doi:10.1297/cpe.2022-0063 · Cited by 38
Hughes, J. N., Aubert, M. K., Heatlie, J. K., Gardner, A. E., Gécz, J., Morgan, T. M., Belsky, J. L., & Thomas, P. Q. (2016) · Clinical Endocrinology · doi:10.1111/cen.13094 · Cited by 31
Suzuki, S., Midorikawa, S., Matsuzuka, T., Fukushima, T., Ito, Y., Shimura, H., Takahashi, H., Ohira, T., Ohtsuru, A., Abe, M., et al. (2017) · Thyroid · doi:10.1089/thy.2016.0662 · Cited by 31
“050% (9), and the reported prevalence of congenital hypothyroidism in Japan is 0.”
BackgroundDiagnosing and managing dementia patients. Practice patterns of family physicians.
Cheok, A., Cohen, C. A., & Sarracini, C. Z. (1997) · PubMed Central · Cited by 29
Jung, J. M., Jin, H. Y., & Chung, M. L. (2016) · Hormone Research in Paediatrics · doi:10.1159/000443399 · Cited by 28
Mitrović, K., Vuković, R., Milenković, T., Todorovic, S., Radivojcevic, J., & Zdravković, D. (2015) · European Journal of Pediatrics · doi:10.1007/s00431-015-2630-5 · Cited by 28
“On the other hand, several studies reported the detection of milder forms of hypothyroidism, in particular with a normally located thyroid gland, led to an increased incidence of CH [7].”
BackgroundCongenital hypothyroidism: Screening, diagnosis, management, and outcome
Ahmad, N., Irfan, A., & Saedi, S. A. (2017) · Journal of Clinical Neonatology · doi:10.4103/jcn.jcn_5_17 · Cited by 27
Thyroid hormone and the developing hypothalamus
Alkemade, A. (2015) · Frontiers in Neuroanatomy · doi:10.3389/fnana.2015.00015 · Cited by 25
“Developmental TH deficiency impairs growth, and compromises adaptation to life outside the womb (Forhead et al., 1998; Hillman et al., 2012; Sferruzzi-Perri et al., 2013; Forhead and Fowden, 2014).”
BackgroundCritical evaluation of the newborn screening for congenital hypothyroidism in the Netherlands
Stroek, K., Heijboer, A. C., Bouva, M. J., van der Ploeg, C. P. B., Heijnen, M. A., Weijman, G., Bosch, A. M., de Jonge, R., Schielen, P. C. J. I., van Trotsenburg, A. S. P., et al. (2020) · European Journal of Endocrinology · doi:10.1530/eje-19-1048 · Cited by 24
Risks of suboptimal and excessive thyroid hormone replacement across ages
Feldt-Rasmussen, U., Effraimidis, G., Bliddal, S., & Klose, M. (2023) · Journal of Endocrinological Investigation · doi:10.1007/s40618-023-02229-7 · Cited by 23
Rowe, A. D., Stoway, S. D., Åhlman, H., Arora, V., Caggana, M., Fornari, A., Hagar, A., Hall, P. L., Marquardt, G. C., Miller, B. J., et al. (2021) · International Journal of Neonatal Screening · doi:10.3390/ijns7020023 · Cited by 26
Hettiarachchi, M., & Amarasena, S. (2014) · BMC Health Services Research · doi:10.1186/1472-6963-14-385 · Cited by 23
“In the Quebec, Lombardy, and New Zealand NBS programs, the incidence of more severe forms of thyroid dysgenesis were unchanged before and after the lowering of the TSH cutoff values [25].”
BackgroundClinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism
Tanaka, T., Aoyama, K., Suzuki, A., Saitoh, S., & Mizuno, H. (2020) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2019-0433 · Cited by 22
“CH is the most common infant endocrine disorder, occurring in 1:2,000–4,000 individuals [1], and is clinically classified as either transient or permanent.”
BackgroundItonaga, T., Higuchi, S., Shimura, K., Nagasaki, K., Satoh, M., Takubo, N., Takahashi, I., Sawada, H., & Hasegawa, Y. (2019) · Hormone Research in Paediatrics · doi:10.1159/000502418 · Cited by 22
Naafs, J. C., Marchal, J. P., Fliers, E., Verkerk, P. H., Luijten, M. A. J., Boelen, A., van Trotsenburg, A. S. P., & Zwaveling-Soonawala, N. (2021) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaa901 · Cited by 21
“While it fulfills the criteria for disease screening, central CH is only rarely included in neonatal screening programs (4, 6).”
BackgroundNazari, J., Jafari, K., Chegini, M., Maleki, A., Mirshafiei, P., Alimohammadi, A., Kazemzadeh, Y., Mikaeliyan, R., & Amini, S. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-02017-7 · Cited by 21
“This indicates that there is no same protocol globally for this work [26].”
BackgroundIncidence of primary congenital hypothyroidism over 24 years in Finland
Danner, E., Niuro, L., Huopio, H., Niinikoski, H., Viikari, L. A., Kero, J. T., & Jääskeläinen, J. (2022) · Pediatric Research · doi:10.1038/s41390-022-02118-4 · Cited by 21
West, R., Hong, J., Derraik, J. G. B., Webster, D., Heather, N. L., & Hofman, P. L. (2020) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgaa415 · Cited by 20
González, Y., de Abajo, G. H., & Martínez‐Morillo, E. (2020) · Critical Reviews in Clinical Laboratory Sciences · doi:10.1080/10408363.2020.1781778 · Cited by 20
“Although the simultaneous fT4 and TSH strategy has the highest detection rate, adding up the sensitivity of both previous strategies and detecting more types of thyroid hormone disorders, its use is not widespread because it implies a high FP rate and an increased operating cost because of duplicated tests [88,89].”
BackgroundYao, Y., Yuan, X., Zhu, J., Xiang, L., Li, Q., Deng, K., Li, X., & Liu, H. (2021) · Chinese Medical Journal · doi:10.1097/cm9.0000000000001613 · Cited by 20
“CH incidence is estimated at 1:2000 to 1:4000 newborns worldwide,([6]) and varies by geographic location, with higher incidence in Spain,([7]) Italy,([8]) and Greece,([9]) which are adjacent to the ocean, than that in landlocked countries, such as the Czech Republic and Bolivia.”
BackgroundYao, Y., Deng, K., Zhu, J., Xiang, L., Yuan, X., Qi Li, M. S. E., Liu, L., Guo, Y., 刘瀚旻, & Li, X. (2023) · European Journal of Pediatrics · doi:10.1007/s00431-023-05108-8 · Cited by 20
“Ford and LaFranchi [38] reviewed that lowering the TSH cutoff value from 20–25 mIU/L to 6–10 mIU/L has been associated with a 2.20-fold increase in the incidence of CH [28, 39, 40].”
BackgroundInfluentialZwaveling‐Soonawala, N., van Trotsenburg, A. S. P., & Verkerk, P. H. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2017-01577 · Cited by 20
Newborn screening for congenital hypothyroidism: worldwide coverage 50 years after its start
Arrigoni, M., Zwaveling‐Soonawala, N., LAFRANCHI, S. H., van Trotsenburg, A. S. P., & Mooij, C. F. (2025) · European Thyroid Journal · doi:10.1530/etj-24-0327 · Cited by 19
“A substantial increase in coverage in the past ten years has been witnessed in Bolivia, Peru, Ecuador, Paraguay and Venezuela (6, 22).”
InfluentialSelf-citationHeather, N. L., Hofman, P. L., de Hora, M. R., Carll, J., Derraik, J. G. B., & WEBSTER, D. R. (2016) · Clinical Endocrinology · doi:10.1111/cen.13250 · Cited by 19
Congenital Hypothyroidism: Role of Nuclear Medicine
Keller, I., Léger, J., Sergent-Alaoui, A., & de Labriolle-Vaylet, C. (2016) · Seminars in Nuclear Medicine · doi:10.1053/j.semnuclmed.2016.10.005 · Cited by 19
Epidemiology of Congenital Hypothyroidism
Olivieri, A. (2015) · Springer eBooks · doi:10.1007/978-3-319-19213-0_6 · Cited by 19
“Moreover, a recent epidemiological evaluation of the current status of screening programs for CH around the world estimated that approximately 71 % of babies worldwide are not born in an area with an established newborn screening program [ 43 ].”
BackgroundGender disparities in screening for congenital hypothyroidism using thyroxine as a primary screen
DeMartino, L., McMahon, R., Caggana, M., & Tavakoli, N. P. (2018) · European Journal of Endocrinology · doi:10.1530/eje-18-0399 · Cited by 18
Hyperthyrotropinemia is common in preterm infants who are born small for gestational age
L., F. G., Gutiérrez, M., Leguizamón, L., & Fabres, J. G. (2020) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2019-0461 · Cited by 18
Newborn screening for primary congenital hypothyroidism: past, present and future
Grob, F., Lain, S., & Olivieri, A. (2025) · European Thyroid Journal · doi:10.1530/etj-24-0358 · Cited by 13
Yarahmadi, S., Azhang, N., Nikkhoo, B., & Rahmani, K. (2020) · Intern J Endocrinol Metab · doi:10.5812/ijem.99099 · Cited by 17
de Andrade, C. L. O., Alves, C., & Ramos, H. E. (2021) · Frontiers in Endocrinology · doi:10.3389/fendo.2021.671784 · Cited by 16
Sánchez, A. R., Guinduláin, M. J. C., Merillas, M. A., Segura, S. A., Navarro, J. C. M., & Arnao, M. D. R. (2019) · Anales de Pediatría · doi:10.1016/j.anpedi.2018.11.002 · Cited by 20
Epidemiology of Thyroid Disease
Vanderpump, M. P. J. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.96019-7 · Cited by 17
Mortality in Children With Early-Detected Congenital Central Hypothyroidism
Zwaveling-Soonawala, N., Naafs, J. C., Verkerk, P. H., & van Trotsenburg, A. S. P. (2018) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2018-00629 · Cited by 15
Initial and delayed thyroid-stimulating hormone elevation in extremely low-birth-weight infants
Yoon, S. A., Chang, Y. S., Ahn, S. Y., Sung, S. I., & Park, W. S. (2019) · BMC Pediatrics · doi:10.1186/s12887-019-1730-1 · Cited by 15
A 7-year study on the prevalence of congenital hypothyroidism in northern Iran
Beheshti, Z., Rezaei, R., Alipour, A., Kosaryan, M., & Saatsaz, S. (2018) · Electronic physician · doi:10.19082/6689 · Cited by 15
“In recent decades, an increase in the prevalence of CH has been observed in some countries (25, 26); however, the prevalence of CH in Iran is higher than in other countries (17, 27, 28).”
BackgroundStroek, K., Visser, A., van der Ploeg, C. P. B., Zwaveling‐Soonawala, N., Heijboer, A. C., Bosch, A. M., van Trotsenburg, A. S. P., Boelen, A., Hoogendoorn, M., & de Jonge, R. (2023) · Clinical Biochemistry · doi:10.1016/j.clinbiochem.2023.03.001 · Cited by 14
Clinical guideline of «congenital hypothyroidism»
Peterkova, V. A., Bezlepkina, O. B., Shiryaeva, T., Вадина, Т. А., Nagaeva, E. V., Чикулаева, О. А., Shreder, E. V., Konuhova, M. B., Makretskaya, N., Андреевна, Ш. Е., et al. (2022) · Problems of Endocrinology · doi:10.14341/probl12880 · Cited by 14
Newborn screening for congenital hypothyroidism in Henan province, China
Zhao, D., Shen, Y., Gong, J., Meng, Y., Su, L., & Zhang, X. (2015) · Clinica Chimica Acta · doi:10.1016/j.cca.2015.10.030 · Cited by 14
Murphy, M. S. Q., Chakraborty, P. K., Pervin, J., Rahman, A. M., Wilson, L. A., Lamoureux, M., Denize, K. M., Henderson, M., Hawken, S., Potter, B. K., et al. (2019) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-018-0993-1 · Cited by 14
Screening for Congenital Hypothyroidism
Lau, C. S., Joseph, R., & Aw, T. C. (2020) · Annals of the Academy of Medicine Singapore · doi:10.47102/annals-acadmedsg.2020618 · Cited by 14
The Impact of Seasonal Changes on Thyroxine and Thyroid-Stimulating Hormone in Newborns
McMahon, R., DeMartino, L., Sowizral, M., Powers, D., Tracy, M., Caggana, M., & Tavakoli, N. P. (2021) · International Journal of Neonatal Screening · doi:10.3390/ijns7010008 · Cited by 13
“In recent years, the majority of programs perform a first-tier thyroid-stimulating hormone (TSH) screen, sometimes in combination with a second-tier thyroxine (T4) screen [2].”
BackgroundGenetic testing can change diagnosis and treatment in children with congenital hypothyroidism
Kara, C., Mammadova, J., Abur, Ü., Gümüşkaptan, Ç., Güllü, E. İ., Dağdemir, A., & Aydın, M. (2023) · European Thyroid Journal · doi:10.1530/etj-22-0212 · Cited by 15
Outcomes of lowered newborn screening thresholds for congenital hypothyroidism
Yu, A., Alder, N., Lain, S. J., Wiley, V. C., Nassar, N., & Jack, M. (2023) · Journal of Paediatrics and Child Health · doi:10.1111/jpc.16425 · Cited by 13
Jansen, H. I., van Haeringen, M., Bouva, M. J., den Elzen, W. P. J., Bruinstroop, E., van der Ploeg, C. P. B., van Trotsenburg, A. S. P., Zwaveling‐Soonawala, N., Heijboer, A. C., Bosch, A. M., et al. (2023) · European Thyroid Journal · doi:10.1530/etj-23-0141 · Cited by 13
A global perspective on newborn congenital hypothyroidism screening
Kopel, J. J. (2019) · Baylor University Medical Center Proceedings · doi:10.1080/08998280.2019.1668715 · Cited by 13
“Despite advances in genetic analysis, the etiology underlying thyroid dysgenesis remains elusive.1,2 However, several mutations in genes encoding thyroid peroxidase, thyroglobulin, and the sodiumiodide symporter are associated with CH.1,2 As shown in Table 1, there are five primary types of congenital hypothyroidism:…”
BackgroundInfluentialEvolution of congenital hypothyroidism in a cohort of preterm born children
Scavone, M., Giancotti, L., Anastasio, E., Pensabene, L., Sestito, S., & Concolino, D. (2020) · Pediatrics & Neonatology · doi:10.1016/j.pedneo.2020.07.014 · Cited by 13
Jaruratanasirikul, S., Piriyaphan, J., Saengkaew, T., Janjindamai, W., & Sriplung, H. (2018) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2017-0340 · Cited by 13
Nascimento, M. L., Nascimento, A. L., Dornbusch, P., Ohira, M., Simoni, G., Cechinel, E., Linhares, R. M. M., Lee, J. V. D. S., & da Silva, P. C. A. (2020) · Archives of Endocrinology and Metabolism · doi:10.20945/2359-3997000000299 · Cited by 12
“Several factors seem to contribute to this effect, including the reduction in TSH cutoff levels in neonatal screening programs (4,7,8).”
InfluentialLi, S., Wu, Y., Zhang, S., Li, G., Xiang, Y., Zhang, W., Pan, W.-J., Chen, W., Hao, Y., Ling, W., et al. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.937430 · Cited by 14
Gmür, S., Konrad, D., & Fingerhut, R. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24032817 · Cited by 13
Ha, E. K., Kim, J. H., Cha, H. R., Lee, G. C., Shin, J., Lee, E., Lee, W. S., Yoo, E.-G., Jung, M. K., & Han, M. Y. (2023) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgad364 · Cited by 12
Current status of the congenital hypothyroidism neonatal screening program in Adana Province, Turkey
Kör, Y., & Kör, D. (2018) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2017-0433 · Cited by 12
Nanu, M. I. (2019) · Acta Endocrinologica (Bucharest) · doi:10.4183/aeb.2019.209 · Cited by 12
“In maternity, a heel-prick dried whole blood spot sample is taken onto Guthrie cards (filter paper cards) at 3 (2) - 5 days after birth in normal weight term neonates.”
BackgroundMethodInfluentialHuynh, T., Greaves, R. F., Mawad, N., Greed, L. C., Wotton, T., Wiley, V. C., Ranieri, E., Rankin, W. A., Ungerer, J. P. J., Price, R., et al. (2022) · Clinical Chemistry and Laboratory Medicine (CCLM) · doi:10.1515/cclm-2022-0403 · Cited by 12
Congenital isolated central hypothyroidism: Novel mutations and their functional implications
Boelen, A., van Trotsenburg, A. S. P., & Fliers, E. (2021) · Handbook of clinical neurology · doi:10.1016/b978-0-12-820107-7.00010-0 · Cited by 11
Congenital Hypothyroidism in Neonates of a Tertiary Care Hospital
Ahmad, A., Wasim, A., Hussain, S., Saeed, M., Ahmad, B. M., & Rehman, K. U. (2017) · Pakistan Journal of Medical Sciences · doi:10.12669/pjms.335.12986 · Cited by 12
Christensen‐Adad, F. C., Mendes-dos-Santos, C. T., Goto, M. M. F., SEWAYBRICKER, L. E., D’Souza-Li, L. F. R., Guerra‐Júnior, G., Morcillo, A. M., & de Lemos‐Marini, S. H. V. (2017) · Jornal de Pediatria · doi:10.1016/j.jped.2017.05.003 · Cited by 12
Congenital hypothyroidism in preterm infants: a 3- to 8-year longitudinal study in southern Thailand
Jaruratanasirikul, S., Janjindamai, W., & Sriplung, H. (2019) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2019-0054 · Cited by 12
Stroek, K., Heijboer, A. C., van Veen, M., Bosch, A. M., van der Ploeg, C. P. B., Zwaveling‐Soonawala, N., de Jonge, R., van Trotsenburg, A. S. P., & Boelen, A. (2021) · European Thyroid Journal · doi:10.1159/000513516 · Cited by 11
Omuse, G., Kawalya, D. E., Mugaine, P., Chege, A., & Maina, D. (2023) · BMC Endocrine Disorders · doi:10.1186/s12902-023-01367-6 · Cited by 11
“Unfortunately, most babies worldwide do not have access to a newborn screening program meaning that most cases of CH go undiagnosed [1].”
BackgroundButler, A. M., Charoensiriwatana, W., Krasao, P., Pankanjanato, R., Thong-Ngao, P., Polson, R. C., Snow, G. L., & Ehrenkranz, J. R. L. (2017) · Thyroid · doi:10.1089/thy.2016.0452 · Cited by 11
“Among the 130 million babies born worldwide annually, only 25–30% are screened, and every year, approximately 1.4 million children with CH are not detected prior to the onset of permanent neurological damage (35,36).”
InfluentialMendes, C. A., Guigen, A. P., Anastácio-Pessan, F. D. L., Dutka, J. D. C. R., & Lamônica, D. A. C. (2017) · Revista CEFAC · doi:10.1590/1982-021620171949616 · Cited by 11
Diagnosis and follow-up of patients with congenital hypothyroidism detected by neonatal screening
Sánchez, A. R., Guinduláin, M. J. C., Merillas, M. A., Segura, S. A., Navarro, J. C. M., & Arnao, M. D. R. (2019) · Anales de Pediatría (English Edition) · doi:10.1016/j.anpede.2018.11.011 · Cited by 11
Lain, S. J., Wiley, V. C., Jack, M., Martin, A. J., Wilcken, B. M., & Nassar, N. (2020) · European Journal of Pediatrics · doi:10.1007/s00431-020-03828-9 · Cited by 11
Alarcon, G., Figueredo, V. M., & Tarkoff, J. (2021) · Pediatrics in Review · doi:10.1542/pir.2020-001420 · Cited by 12
High Incidence of Congenital Hypothyroidism in One Region of the Republic of Macedonia
Anastasovska, V., Koviloska, R., & Kočova, M. (2014) · Balkan Journal of Medical Genetics · doi:10.2478/bjmg-2014-0024 · Cited by 11
“The incidence of CH is also significantly higher in this region compared with surrounding countries [3,4] and developing countries, in general (from 1:3000 to 1:4000), [5].”
BackgroundAgretti, P., Bagattini, B., De Marco, G., Di Cosmo, C., Dionigi, G., Vitti, P., & Tonacchera, M. (2016) · Endocrine · doi:10.1007/s12020-015-0790-8 · Cited by 10
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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