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
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Items 101–200 of 272
Postnatal Serum Total Thyroxine of Very Preterm Infants and Long-Term Neurodevelopmental Outcome
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Dépistage néonatal de l’hypothyroïdie congénitale et de l’hyperplasie congénitale des surrénales
Vliet, G. V., & Grosse, S. D. (2021) · médecine/sciences · doi:10.1051/medsci/2021053 · Cited by 13
“Lastly, it is sobering to realize that 70% of the world’s newborns do not benefit from any NBS at all [17, 39].”
Neonatal Screening for Hyperthyroidism Proof of Concept
Banigé, M., Kariyawasam, D., Gauthereau, V., Luton, D., & Polak, M. (2021) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgab890 · Cited by 10
Case Report: The Specter of Untreated Congenital Hypothyroidism in Immigrant Families
Hamdoun, E., Karachunski, P. I., Nathan, B. M., Fischer, M., Torkelson, J. L., Drilling, A., & Petryk, A. (2016) · PEDIATRICS · doi:10.1542/peds.2015-3418 · Cited by 10
Newborn screening for central congenital hypothyroidism: past, present and future
Garrelfs, M. R., Mooij, C. F., Boelen, A., van Trotsenburg, A. S. P., & Zwaveling‐Soonawala, N. (2025) · European Thyroid Journal · doi:10.1530/etj-24-0329 · Cited by 13
“TSH-based screening effectively detects primary CH but misses central CH (3, 27).”
InfluentialNagasaki, K., Sato, H., Sasaki, S., Nyuzuki, H., Shibata, N., Sawano, K., Hiroshima, S., & Asami, T. (2021) · International Journal of Neonatal Screening · doi:10.3390/ijns7020027 · Cited by 10
“Recently, reports have indicated that the prevalence of CH detected by NBS is increasing due to lower thyroid-stimulating hormone (TSH) cut-off values, racial composition changes, and an increase in the number of preterm or low-birthweight infants [3–5].”
Vidavalur, R. (2022) · Frontiers in Pediatrics · doi:10.3389/fped.2022.788589 · Cited by 10
Worldwide Coverage of Newborn Screening for Congenital Hypothyroidism—A Public Health Challenge
LAFRANCHI, S. H. (2014) · US Endocrinology · doi:10.17925/use.2014.10.02.115 · Cited by 9
“3 %) are screened for CH annually.(8) There were clear differences by geographic region: Europe screened 84.”
BackgroundSelf-citationRegional Variation in the Incidence of Congenital Hypothyroidism in Macedonia
Anastasovska, V., Sukarova-Angelovska, E., Pesevska, M., Taseva, E., & Kočova, M. (2017) · International Journal of Neonatal Screening · doi:10.3390/ijns3030022 · Cited by 9
Prevalencia al nacimiento de hipotiroidismo congénito
Trejo, M. A. H., Amieva, M. V., Ibarra‐González, I., Farias, A. P. D. C., Pérez, L. D. A. H., Parra, G. C., Córdova, L. E. B., & Flores, E. P. G. (2018) · Acta Pediátrica de México · doi:10.18233/apm39no6pp5s-13s1717 · Cited by 9
Rosettenstein, K. R., Lain, S. J., Wormleaton, N., & Jack, M. (2021) · Clinical Endocrinology · doi:10.1111/cen.14562 · Cited by 9
Yokomichi, H., Mochizuki, M., Kojima, R., Horiuchi, S., Ooka, T., Akiyama, Y., Miyake, K., Kushima, M., Otawa, S., Shinohara, R., et al. (2021) · Endocrine Journal · doi:10.1507/endocrj.ej21-0168 · Cited by 9
“Indeed, a previous study indicated that the incidence of CH in Japanese neonates has risen over the past two decades [29], and a rising international trend has also been identified [6].”
Backgroundde Matos, D. M., Ramalho, R. J. R., Carvalho, B. M., Almeida, M. A. C. T., Passos, L. F. D., Vasconcelos, T. T. S., de Melo, E. V., Oliveira, C. R. P., Santos, E. G., Rezende, K. F., et al. (2016) · Archives of Endocrinology and Metabolism · doi:10.1590/2359-3997000000189 · Cited by 9
“Accordingly, the lower neonatal TSH cutoff by six NBS programs around the word, when TSH cutoff was lowered from a range of 20-25 μU/mL to 6-10 μU/ mL (whole blood), reportedly doubled the incidence of CH, increasing from 1:3,500 to 1:1,714 (9).”
BackgroundInfluentialTfayli, H. M., Charafeddine, L., Tamim, H., Saade, J., Daher, R. T., & Yunis, K. A. (2018) · Hormone Research in Paediatrics · doi:10.1159/000487637 · Cited by 9
Congenital Hypopituitarism in Neonates
Cherella, C. E., & Cohen, L. E. (2018) · NeoReviews · doi:10.1542/neo.19-12-e742 · Cited by 9
History of Neonatal Screening of Congenital Hypothyroidism in Portugal
Costeira, M. J., Costa, P., Roque, S., Carvalho, I., Vilarinho, L., & Palha, J. A. (2024) · International Journal of Neonatal Screening · doi:10.3390/ijns10010016 · Cited by 8
“The advantages and disadvantages of the various options have been widely discussed, and differences in the reported birth prevalence and recall rates of CH, delayed TSH rise, and subclinical hypothyroidism diagnosis have been justified [6,13,16].”
BackgroundPaul, P. G., Rebekah, G. J., Korula, S., Kumar, M., Bondu, J. D., Raghupathy, P., Simon, A., & Mathai, S. (2021) · Indian Journal of Endocrinology and Metabolism · doi:10.4103/ijem.ijem_220_21 · Cited by 8
Improving newborn screening in India: Disease gaps and quality control
Panchbudhe, S. A., Shivkar, R. R., Banerjee, A., Deshmukh, P., Maji, B. K., & Kadam, C. Y. (2024) · Clinica Chimica Acta · doi:10.1016/j.cca.2024.117881 · Cited by 8
Sze Lyn Jeanne, W., Jalaludin, M. Y., Zaini, A. A., Samingan, N. B., & Harun, F. (2015) · Advances in Endocrinology · doi:10.1155/2015/387684 · Cited by 8
“This gave an overall incidence of 1 in 1170, higher than that in previous local studies and other Asian countries [7, 10, 11]; see Table 1.”
BackgroundResultInfluentialTrend of Congenital Hypothyroidism Incidence and its Affecting Factors in Shahr-e-Kord, Western Iran
Soodejani, M. T., Tabatabaei, S. M., Shoraka, H. R., FALLAHZADEH, H., & Ghaderi, A. (2020) · Iranian Journal of Public Health · doi:10.18502/ijph.v49i5.3218 · Cited by 8
“One of the possible causes of the incidence of congenital hypothyroidism in different parts of the world is iodine deficiency and the related disorders (8).”
BackgroundBrusa, J., Maggio, M. C., Giustino, V., Thomas, E., Zangla, D., Iovane, A., Palma, A., Corsello, G., Messina, G., & Bellafiore, M. (2020) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph17134830 · Cited by 8
Disorders of the Thyroid in the Newborn and Infant
Deladoëy, J., Oettingen, J. E. V., & Vliet, G. V. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-62520-3.00008-7 · Cited by 8
van Trotsenburg, A. S. P., Stoupa, A., Léger, J., Rohrer, T. R., Peters, C. J., Fugazzola, L., Cassio, A., Heinrichs, C., Beauloye, V., Pohlenz, J., et al. (2021) · Yearbook of pediatric endocrinology · doi:10.1530/ey.18.3.8 · Cited by 8
GENETIC DEFECTS IN THYROID HORMONE SUPPLY
Nettore, I. C., Fenzi, G., & Macchia, P. E. (2014) · Cited by 8
Vincenzi, G., Petralia, I. T., Abbate, M. T. A., & Vigone, M. C. (2025) · European Thyroid Journal · doi:10.1530/etj-25-0019 · Cited by 8
First Experiences with Newborn Screening for Congenital Hypothyroidism in Ulaanbaatar, Mongolia
Tsevgee, A., Batjargal, K., Munkhchuluun, T., Khurelbaatar, N., Nansal, G., Oyun-Erdene, B., Sumberzul, N., Zagd, G., & Ganbaatar, E. (2021) · International Journal of Neonatal Screening · doi:10.3390/ijns7020029 · Cited by 7
“Over the last 40 years, NBS programs have been established in most developed countries, measuring thyroid-stimulating hormone (TSH) and thyroxine (T4) in dried blood spots, and have allowed the early detection of CH [6].”
BackgroundChen, S., Yang, B., Li, J.-Y., Xu, P., & Wang, F. (2021) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2020-0733 · Cited by 8
Impact of Lower Screening TSH Cutoff Level on the Increasing Prevalence of Congenital Hypothyroidism
Anastasovska, V., & Kočova, M. (2017) · International Journal of Neonatal Screening · doi:10.3390/ijns3020007 · Cited by 7
“However, a two-fold increase in the prevalence of CH has been reported by six Newborn Screening Programs around the world, after lowering the TSH cutoff [9].”
BackgroundNewborn Screening for Congenital Hypothyroidism in Institutional Set Up in an Urban Area in Odisha
Sahoo, P. K., Swain, A., Sahoo, G., Mohanty, S., & Barik, K. (2020) · International Journal of Current Research and Review · doi:10.31782/ijcrr.2020.122431 · Cited by 7
Newborn screening and the screening laboratory: past, present and future
Boelen, A., & Heijboer, A. C. (2025) · European Thyroid Journal · doi:10.1530/etj-24-0325 · Cited by 6
Determining Reference Ranges for Total T4 in Dried Blood Samples for Newborn Screening
Hijman, A.-I., Konrad, D., & Fingerhut, R. (2020) · International Journal of Neonatal Screening · doi:10.3390/ijns6010017 · Cited by 6
“For this reason, neonatal screening was started in the 1970s, including the determination of either thyroxine (T4) or thyroid stimulating hormone (TSH), to detect children with such a condition as early as possible [2].”
BackgroundChallenges in screening for congenital hypothyroidism: Optimization of thyrotropin cut-off values
Delgado, J. A., Bauçà, J. M., Esteban, G. P., Jaume, M. C., & Bauza, J. R. (2020) · Clinica Chimica Acta · doi:10.1016/j.cca.2020.11.009 · Cited by 6
Dépistage de l’hypothyroïdie congénitale
Léger, J. (2021) · médecine/sciences · doi:10.1051/medsci/2021058 · Cited by 6
Spatial Distribution of Congenital Hypothyroidism
Mahaki, B., Mehrnejat, N., Zabihi, M., Dalvi, M., & Kazemitabaee, M. (2021) · Archives of Iranian Medicine · doi:10.34172/aim.2021.90 · Cited by 6
Neonatal screening for congenital hypothyroidism: Time to lower the TSH threshold in France
Levaillant, L., Huet, F., Bretones, P., Corne, C., Dupuis, C., Reynaud, R., Somma, C., Barat, P., Corcuff, J., Bouhours‐Nouet, N., et al. (2022) · Archives de Pédiatrie · doi:10.1016/j.arcped.2022.02.001 · Cited by 6
Bin, S., Phou, K., & Im, S. (2023) · BMJ Case Reports · doi:10.1136/bcr-2022-249997 · Cited by 6
Kağızmanlı, G. A., & Demir, K. (2023) · Trends in Pediatrics · doi:10.59213/tp.2023.53215 · Cited by 6
Flores-Robles, C. M., Coronado-Zarco, I. A., Ortega-González, C., Arreóla-Ramírez, G., & Reyes-Muñoz, E. (2018) · Perinatología y Reproducción Humana · doi:10.1016/j.rprh.2018.04.003 · Cited by 6
Muneer, S., Siddiqui, I., Majid, H., Jafri, L., Humayun, K. N., Ahmed, S., & Khan, A. H. (2021) · Annals of Medicine and Surgery · doi:10.1016/j.amsu.2021.102601 · Cited by 5
“The CH is one of the most common preventable causes of mental retardation [3].”
BackgroundTanase‐Nakao, K., Iwahashi-Odano, M., Sugisawa, C., Abe, K., Muroya, K., Yamamoto, Y., Kawada, Y., Mushimoto, Y., Ohkubo, K., Kinjo, S., et al. (2024) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgae098 · Cited by 5
Gorini, F., Coi, A., Pierini, A., Assanta, N., Bottoni, A., & Santoro, M. C. (2024) · Children · doi:10.3390/children11050513 · Cited by 8
Wong, J. S. L., Selveindran, N. M., Rashdan Zaki, M., Zain, F. M., Anas, S. S., & Hong, J. (2020) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2020-0148 · Cited by 6
Shaikh, A. M. A., Alsofyani, A., Shirah, B. H., Noaim, K. I. A., Ahmed, M. E., Babiker, A. M. I., & Alwan, I. A. A. (2021) · Europe PMC (PubMed Central) · Cited by 5
Yarahmadi, S., Nikkhoo, B., Parvizi, H., Motaghi, R., & Rahmani, K. (2022) · Intern J Endocrinol Metab · doi:10.5812/ijem-131081 · Cited by 5
“In the 1970s, a worldwide newborn screening program (NBS) was launched with remarkable effectiveness in reducing CH-related problems (6).”
BackgroundPatyra, K., Makkonen, K., Haanpää, M. K., Karppinen, S., Viikari, L. A., Toppari, J., Reeve, M. P., & Kero, J. T. (2021) · Frontiers in Endocrinology · doi:10.3389/fendo.2021.658137 · Cited by 4
“org 5 hypothyroidism (CH) screening programmes, which are generally targeted to detect themore prevalent primaryCHusingTSH-based screening (4, 14).”
BackgroundQuality of life and socioeconomic and educational status in patients with congenital hypothyroidism
Danner, E., Sund, R., Sintonen, H., Niuro, L., Niinikoski, H., Huopio, H., Viikari, L. A., & Jääskeläinen, J. (2024) · Pediatric Research · doi:10.1038/s41390-024-03170-y · Cited by 4
Insights Into Central Congenital Hypothyroidism: A Multicenter Retrospective Analysis
German, A., Almashanu, S., de Vries, L., Margolis, M. G., Halloun, R., Haim, A., Eyal, O., Levy‐Khademi, F., Pivko‐Levy, D., Nir, J., et al. (2024) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgae485 · Cited by 5
“This new strategy allows the detection of neonates with CCH (10, 11).”
Clinical Insight into Congenital Hypothyroidism Among Children
Korkmaz, H. A. (2025) · Children · doi:10.3390/children12010055 · Cited by 4
Ahn, J., & Jeong, H. R. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26094465 · Cited by 4
“Primary congenital hypothyroidism (CH) is the most common endocrine disorder affecting newborns, with an estimated global incidence ranging from 1 in 1000 to 1 in 3000 live births [1].”
Evolução do Programa de Triagem Neonatal em hospital de referência no Ceará: 11 anos de observação
Carvalho, D. C. E. S. N., Macedo, T. C. C., Moreno, M., Figueiredo, F. W. D. S., Sales, I. B., Christofolini, J., Bianco, B. A. V., Barbosa, C. P., & Christofolini, D. M. (2017) · ABCS Health Sciences · doi:10.7322/abcshs.v42i3.933 · Cited by 4
Skeletal Effects of Thyroid Hormones
Bakos, B., Takács, I., Stern, P. H., & Lakatos, P. L. (2018) · Clinical Reviews in Bone and Mineral Metabolism · doi:10.1007/s12018-018-9246-z · Cited by 4
Alladin, B., Mohamed-Rambaran, P., Grey, V. L., Hunter, A. J., Chakraborty, P. K., Henderson, M., Milburn, J., & Tessier, L. (2022) · BMJ Open · doi:10.1136/bmjopen-2020-046240 · Cited by 4
Worldwide Newborn Screening and Early Immunizations: Aligning Advances in Preventive Pediatrics
L., F. G., Odame, I., & Vliet, G. V. (2023) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2023.113732 · Cited by 4
Zhou, D., Yang, R., Huang, X., Huang, X., Yang, X., Mao, H.-Q., Yang, J., & Zhao, Z. (2023) · Journal of Zhejiang University (Medical Sciences) · doi:10.3724/zdxbyxb-2023-0473 · Cited by 4
Deligeorgopoulou, M., Kosmeri, C., Giapros, V. I., Balomenou, F., Baltogianni, M. S., & Serbis, A. (2024) · Acta Paediatrica · doi:10.1111/apa.17102 · Cited by 4
Flores-Robles, C. M., Roldán-Valadéz, E., Martínez-Cruz, N., Arce-Sánchez, L., Zurita, A. L. P., Estrada‐Gutiérrez, G., & Reyes-Muñoz, E. (2020) · Diagnostics · doi:10.3390/diagnostics10070475 · Cited by 4
Congenital Hypothyroidism Can Dictate the Mode of Delivery and Intra-Labor Medication Usage
Rosen, G., Lavie, A., Yackobovitch‐Gavan, M., Almashanu, S., Priel, M., Many, A., Lebenthal, Y., & Brener, A. (2021) · Thyroid · doi:10.1089/thy.2021.0388 · Cited by 4
“Neonatal thyroid screening aims to detect infants with congenital hypothyroidism (CH) to initiate thyroid hormone replacement therapy as soon as possible and prevent mental retardation (4).”
Alcántara‐Ortigoza, M. A., Sánchez-Verdiguel, I., Fernández‐Hernández, L., Enríquez‐Flores, S., González-Núñez, A., Hernández‐Martínez, N. L., Sánchez, C., & Angel, A. G. (2021) · Children · doi:10.3390/children8060457 · Cited by 4
“Mexico shows one of the highest and increasing worldwide CH birth prevalences [2,8], with the disease mostly attributable to TD (~93%) [17].”
BackgroundInfluentialA National Survey on Congenital Hypothyroidism Newborn Screening in Pakistan
Khan, S. A., Aftab, S., Khan, Y. N., Yasir, M., Arshad, K., Mehak, N.-U.-A., Rehman, S. K. U., Faiztalpur, A., Bahar, S., Razzaq, A. A., et al. (2024) · Global Pediatric Health · doi:10.1177/2333794x241293526 · Cited by 3
Hengeveld, R. C. C., Albersen, M., Hadders, M. A., Hellinga, I., Bikker, H., Heijboer, A. C., van Trotsenburg, A. S. P., Hillebrand, J. J., Boelen, A., & Zwaveling‐Soonawala, N. (2021) · Hormone Research in Paediatrics · doi:10.1159/000516691 · Cited by 3
Tanase‐Nakao, K., Muroya, K., Adachi, M., Abe, K., Hasegawa, T., & Narumi, S. (2022) · Clinical Pediatric Endocrinology · doi:10.1297/cpe.2022-0030 · Cited by 3
“Congenital hypothyroidism (CH) is the most common congenital endocrine disorder, affecting 1 in 2,000–4,000 live births (1).”
BackgroundAKOVA, İ., Kılıç, E., & KOŞAROĞLU, N. E. (2022) · Türkiye Halk Sağlığı Dergisi · doi:10.20518/tjph.1105652 · Cited by 4
Anastasovska, V., Pesevska, M., Zdraveska, N., Zafirova, B., Meceska-Jovcevska, J., & Kočova, M. (2023) · The Turkish Journal of Pediatrics · doi:10.24953/turkjped.2022.594 · Cited by 3
Thyrotropin Screening of Newborns: Before or After 72 Hours of Life? Before Discharge or at Home?
Boros, E., Marcélis, L., Vliet, G. V., Ongoth, F. E. M., Heinrichs, C., & Brachet, C. (2023) · Thyroid · doi:10.1089/thy.2023.0114 · Cited by 3
Shibata, N., Numakura, C., Hamajima, T., Miyako, K., Fujiwara, I., Mori, J., Saitoh, A., & Nagasaki, K. (2024) · Endocrine Journal · doi:10.1507/endocrj.ej23-0391 · Cited by 3
Uchiyama, A., Sugihara, S., & Kusuda, S. (2016) · Pediatrics International · doi:10.1111/ped.13037 · Cited by 3
Martínez, E. M. C., Reyes, E. C. G., Pérez, P. L., del Río, L., Tejeda, Y., Perea, Y., Martín, O., Espinosa, M., Rivero, J. A., & Frómeta, A. (2017) · Journal of Immunoassay and Immunochemistry · doi:10.1080/15321819.2017.1392321 · Cited by 3
“Both hormones can be detected in human serum or dried blood on filter paper, being this way the most common method used worldwide in the neonatal screening.([17]) Earlier, for screening of newborns for CH, most programs undertook an initial T4 test, followed by TSH testing if the T4 value falls under a cut off limit.”
MethodIsolated Fetal Sinus Bradycardia as a First Sign of Congenital Hypopituitarism
Lapointe, S., Rottembourg, D., & Dallaire, F. (2020) · CJC Open · doi:10.1016/j.cjco.2020.04.004 · Cited by 3
“Congenital hypothyroidism affects 1/2000 to 1/4000 neonates and most commonly results from a primary thyroid anomaly.(1) Central hypothyroidism is rare (1/8000 births).”
BackgroundRodrigues, T. M. B., Silva, M. M. D. C., Freitas, M. M., Duarte, Z. M. C., Frutuoso, V. S., Rodrigues, M. T., & Rubio, I. G. S. (2021) · Frontiers in Endocrinology · doi:10.3389/fendo.2021.671659 · Cited by 3
Newborn Screening in Pediatric Endocrine Disorders
Draznin, M. B., Borgohain, P., & Kanungo, S. (2022) · Endocrines · doi:10.3390/endocrines3010010 · Cited by 4
“Worldwide screening for CH has been expanded to about 29% of the newborns in the world; the estimate is that 30,000 infants are missed each year [20].”
BackgroundAzim, M. A. U., Islam, M. A., Biswasarma, S. C., Uddin, M. J., Jabin, Z., Begum, F. K., Begum, S. M., Alam, F., Hasan, M., Nahar, N., et al. (2022) · Bangladesh Journal of Nuclear Medicine · doi:10.3329/bjnm.v25i1.59636 · Cited by 3
“The screening program for congenital hypothyroidism has been demonstrated as a tremendous advancement particularly in preventive medicine since its establishment in 1974 in Quebec, Canada as the program has already been launched both in the developed and more and more in developing countries (12,13).”
BackgroundClinical Practice Recommendations for Assessment and Management of Hypothyroidism
Alsifri, S. N., Aljuhani, N. R., Al-Jedai, A. H., Nasser, T., Alsabaan, F., Almudaiheem, H., Amir, A., Baissa, E., Ghannam, N., Aldawish, M., et al. (2022) · International Journal of Clinical Medicine · doi:10.4236/ijcm.2022.1312046 · Cited by 4
FREQUENCY OF CONGENITAL HYPOTHYROIDISM IN PRETERM AND LOW BIRTH WEIGHT NEONATES
Akram, M. S., Hussain, F., Mateen, M., & Ali, A. S. (2022) · Pakistan Postgraduate Medical Journal · doi:10.51642/ppmj.v33i01.345 · Cited by 3
Congenital hypothyroidism in Bogotá, Colombia: a current description (2015–2021)
Pineda-Sanabria, P., Portilla‐Rojas, E., León-Sanabria, M. C., Barriga, D. S. B., Salazar-Reviakina, A., Serrano, A., Sarmiento, K., & Zarante, I. (2023) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2023-0150 · Cited by 3
Clinical Relevance of Molecular Diagnosis in Patients with Congenital Hypothyroidism
Nicola, J. P. (2017) · Journal of Molecular and Genetic Medicine · doi:10.4172/1747-0862.1000240 · Cited by 3
“Therefore, neonatal screening programs—one of the major achievements in preventive medicine—primarily seek to detect elevated thyrotropin (TSH) levels, reduced thyroxine (T4) levels, or both at birth allowing a prompt diagnosis and an early onset of levothyroxine therapy, virtually abolishing the development of intell…”
BackgroundFúnez, A., Lara, M. E., Chévez, A. C., Castellón, E. A., Perán, S., del Toro, M. J. P., Montoya, E., & varro, J. C. M. (2019) · Journal of Inborn Errors of Metabolism and Screening · doi:10.1590/2326-4594-jiems-2019-0003 · Cited by 3
“The wide variation of incidences through the region, as for the rest of the world, can be influenced by technical issues, but also by ethnic (genetic) backgrounds as well as by environmental conditions like iodine deficiency[2] .”
BackgroundYılmaz, A., Özer, Y., Kaya, N., Çakır, A. D., Çulpan, H. C., Perk, Y., Vural, M., & Evliyaoğlu, O. (2023) · The Italian Journal of Pediatrics/Italian journal of pediatrics · doi:10.1186/s13052-023-01516-6 · Cited by 3
“Screening programs of CH have been established for early recognition of the disorder and preventing its related neurodevelopmental consequences [1, 2].”
BackgroundNewborn screening for congenital hypothyroidism and phenylketonuria—Beyond cost savings
Grosse, S. D., & Vliet, G. V. (2023) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2023.113417 · Cited by 3
van Trotsenburg, A. S. P., & Zwaveling‐Soonawala, N. (2025) · Jornal de Pediatria · doi:10.1016/j.jped.2025.01.001 · Cited by 2
Implementation of Neonatal Screening Program for Congenital Hypothyroidism in Eastern Morocco
Wahoud, F., Essadki, S., Zirar, K., Lamsyah, R., Hajjaji, W., & Amrani, R. (2025) · International Journal of Neonatal Screening · doi:10.3390/ijns11030055 · Cited by 2
“Currently, the TSH strategy is the most frequently used in screening programs worldwide [1,5].”
Zwaveling‐Soonawala, N., Virmani, A., Pulungan, A. B., Haddad, J., Boddu, S. K., Darendelıler, F., & van Trotsenburg, A. S. P. (2025) · International Journal of Neonatal Screening · doi:10.3390/ijns11040105 · Cited by 2
“For example, the rate in Sri Lanka rose from 2.8 to 92%, that in Vietnam increased from 7 to 38.5% [12,13], and that in Indonesia rose from 1 to 28% in 2023 and is increasing rapidly [7].”
InfluentialPrevalence of congenital hypothyroidism in infants of mothers with hypothyroidism: a meta-analysis
Yarlagadda, S. D., Shanthaiah, D. M., Ravindra, S., & Sarathi, V. (2025) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2025-0288 · Cited by 2
“Congenital hypothyroidism (CH) is the most common pre-ventable cause of intellectual disability in neonates, with an incidence of approximately 1:2000 to 1:4,000 live births globally [1].”
InfluentialUmbilical cord blood TSH level: correlation with congenital hypothyroidism
Mahesh Reddy, J., Seshagiri, G., Padmaja, K., Archana, C. H., & Ramya, C. (2021) · International Journal of Contemporary Pediatrics · doi:10.18203/2349-3291.ijcp20212473 · Cited by 2
“Congenital hypothyroidism is the most common preventable cause of mental retardation and CH also satisfies all the criteria for being included in the newborn screening.1,2 It has a worldwide annual incidence of 1:4000 live birth.3,4 However the prevalence is much higher in several other countries including 1:748 (Iran…”
BackgroundChen, Y., Chu, W.-Y., Pan, Y., Wang, C.-Y., Chou, Y., Lin, C.-H., Tsuda, K., Iwata, O., Yu, W., & Lin, Y. (2022) · Nutrients · doi:10.3390/nu14102056 · Cited by 2
Ahmad, A., Ashraf, H., Khan, K., & Ahmed, A. (2023) · Cureus · doi:10.7759/cureus.45611 · Cited by 2
Kahssay, M., & Ngwiri, T. (2024) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem-2024-0219 · Cited by 2
“This makes newborn screening a crucial way for an early diagnosis [2].”
Saeidinejat, S., Belhouri, N. G., & Attarian, F. (2020) · PubMed Central · doi:10.34171/mjiri.34.117 · Cited by 2
“2 world and is higher in Asians compared to American and European populations (5-10).”
BackgroundKhokhar, A. R., & Cheema, A. M. (2021) · Pakistan Journal of Medical Sciences · doi:10.12669/pjms.37.5.4086 · Cited by 2
Bernal, S. Y., & Meager, M. R. (2019) · Springer eBooks · doi:10.1007/978-3-030-14895-9_25 · Cited by 2
Endocrine components of newborn screening
Russell, M. (2020) · Current problems in pediatric and adolescent health care · doi:10.1016/j.cppeds.2020.100772 · Cited by 2
Epidemiology of Thyroid Disease and Swelling
Vanderpump, M. P. J. (2022) · doi:10.1093/med/9780198870197.003.0045 · Cited by 2
Newborn Screening for Congenital Hypothyroidism and Congenital Adrenal Hyperplasia in Egypt
ElBakry, N. M. (2022) · Annals of Neonatology Journal · doi:10.21608/anj.2022.276380 · Cited by 2
Cantu, M. S., & Kandhal, P. K. (2023) · Emergency Medicine Clinics of North America · doi:10.1016/j.emc.2023.06.007 · Cited by 2
Muneer, S., Ahmed, S., Agravatt, A., & Siddiqui, I. (2024) · Journal of College of Physicians And Surgeons Pakistan · doi:10.29271/jcpsp.2024.07.775 · Cited by 1
Screening Blind Spot: Missing Preterm Infants in the Detection of Congenital Hypothyroidism
Brown, A., Hofman, P. L., WEBSTER, D. R., & Heather, N. L. (2025) · International Journal of Neonatal Screening · doi:10.3390/ijns11020037 · Cited by 1
“Primary congenital hypothyroidism (CH) is the most common disorder detected on newborn metabolic (bloodspot) screening and a common preventable cause of intellectual disability worldwide [1–3].”
Lugarà, C., Corica, D., Pepe, G., Messina, M. F., Valenzise, M., Zirilli, G., Morabito, L. A., Pomi, A. L., Wasniewska, M. G., & Aversa, T. (2025) · The Italian Journal of Pediatrics/Italian journal of pediatrics · doi:10.1186/s13052-025-02099-0 · Cited by 1
“…of TH deficiency on linear growth, growth velocity, and skeletal maturation, initiation of levothyroxine therapy within the first month of life and at an appropriate dosage, promote regular growth trajectories, pubertal progression, and the achievement of normal adult stature [10, 11, 24–27].”
Laboratory Aspects in Neonatal Screening of Congenital Hypothyroidism
Corbetta, C., & Alberti, L. (2015) · Springer eBooks · doi:10.1007/978-3-319-19213-0_5 · Cited by 1
“At present, T4 is used as primary screening test only in some states of the USA and in Israel, whereas the strategy with simultaneous ( tandem ) T 4 and TSH testing is applied only in a limited number of screening programs [ 15 ].”
Milenković, T., Vuković, R., Radojicic, B., Mitrović, K., Todorovic, S., & Zatezalo, L. (2019) · The Turkish Journal of Pediatrics · doi:10.24953/turkjped.2019.03.001 · Cited by 1
Predicting the pathogenicity of NKX2-1 and IGSF1 variants with in silico bioinformatic tools
Narumi, S. (2020) · Clinical Pediatric Endocrinology · doi:10.1297/cpe.29.123 · Cited by 1
“Congenital hypothyroidism (CH) is the most common congenital endocrine disorder, affecting 1 in approximately 2,000–3,000 newborns worldwide (1).”
Background
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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