Newborn screening for primary congenital hypothyroidism: past, present and future

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dc.article.numbere240358
dc.catalogadorjca
dc.contributor.authorGrob Lunecke, Francisca Andrea
dc.contributor.authorLain, Samantha
dc.contributor.authorOlivieri, Antonella
dc.date.accessioned2025-04-30T17:30:46Z
dc.date.available2025-04-30T17:30:46Z
dc.date.issued2025
dc.description.abstractThis manuscript reviews the evolution of newborn screening for primary congenital hypothyroidism (CH) and explores future strategies to enhance diagnostic accuracy. Over the past few decades, newborn screening has expanded globally, significantly reducing the incidence of severe forms of the disease. However, challenges persist, especially regarding the overdiagnosis of mild cases of primary CH, which may not require treatment. Omic sciences may help researchers to enhance the understanding of primary CH and to uncover new biomarkers to identify mild cases with altered proteomic and/or metabolic profiles associated with the need for treatment. Record-linkage studies can help deepen knowledge on the long-term outcomes of affected children identified through newborn screening. Nevertheless, despite 50 years of newborn screening for primary CH, a minority of newborns currently benefit from this critically important public health intervention. Efforts should be done to expand access to newborn screening globally, especially for those born in developing countries.
dc.fechaingreso.objetodigital2025-04-30
dc.format.extent14 páginas
dc.fuente.origenORCID
dc.identifier.doi10.1530/ETJ-24-0358
dc.identifier.issn2235-0802
dc.identifier.scopusidSCOPUS_ID:86000311113
dc.identifier.urihttps://doi.org/10.1530/ETJ-24-0358
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/103554
dc.information.autorucEscuela de Medicina; Grob Lunecke, Francisca Andrea; 0000-0001-7685-9311; 209562
dc.language.isoen
dc.nota.accesocontenido completo
dc.revistaEuropean Thyroid Journal
dc.rightsacceso abierto
dc.rights.licenseAttribution-NonCommercial-NoDerivatives 4.0 International License
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectNeonatal screening
dc.subjectNewborns
dc.subjectPrevention
dc.subjectPrimary congenital hypothyroidism
dc.subject.ddc610
dc.subject.deweyMedicina y saludes_ES
dc.titleNewborn screening for primary congenital hypothyroidism: past, present and future
dc.typeartículo
dc.volumen14
sipa.codpersvinculados209562
sipa.trazabilidadSCOPUS;2025-03-23
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