Incidence of Congenital Hypothyroidism Is Increasing in Chile

Congenital hypothyroidism (CH) is a leading preventable cause of neurocognitive impairment. Its incidence appears to be rising in several countries. We analysed 27 years of newborn-screening data (1997-2023) from the largest Chilean screening centre, covering 3,225,216 newborns (51.1% of national births), to characterise temporal trends and potential drivers of CH incidence. Annual CH incidence was modelled with Prais-Winsten regression to correct for first-order autocorrelation; additional models assessed trends in gestational age, sex, biochemical markers, and aetiological subtypes. We identified 1550 CH cases, giving a mean incidence of 4.9 per 10,000 live births and a significant yearly increase of 0.067 per 10,000 (95 % CI 0.037-0.098; <i>p</i> < 0.001). Mild cases (confirmation TSH < 20 mU/L) rose (+0.89 percentage points per year; <i>p</i> = 0.002). The program's recall was low (0.05%). Over time, screening and diagnostic TSH values declined, total and free T4 concentrations rose, gestational age at diagnosis fell, and a shift from thyroid ectopy toward hypoplasia emerged; no regional differences were detected. The sustained increase in CH incidence, alongside falling TSH thresholds and growing detection of in situ glands, suggests enhanced recognition of milder disease. Ongoing surveillance should integrate environmental, iodine-nutrition, and genetic factors to clarify the causes of this trend.

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Publication Details

Journal
International Journal of Neonatal Screening
Published
2025-07-26
DOI
https://doi.org/10.3390/ijns11030058
Primary Topic
Neonatal Health and Biochemistry
Type
article
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article

Incidence of Congenital Hypothyroidism Is Increasing in Chile

Gabriel Cavada, Silvana Valdebenito, Maria Virginia Perez, Francisca Grob et al.
International Journal of Neonatal Screening
Neonatal Health and Biochemistry
article

Incidence of Congenital Hypothyroidism Is Increasing in Chile

Gabriel Cavada, Silvana Valdebenito, Maria Virginia Perez, Francisca Grob, Gabriel Lobo, Gilda Donoso
article en

Abstract

Congenital hypothyroidism (CH) is a leading preventable cause of neurocognitive impairment. Its incidence appears to be rising in several countries. We analysed 27 years of newborn-screening data (1997-2023) from the largest Chilean screening centre, covering 3,225,216 newborns (51.1% of national births), to characterise temporal trends and potential drivers of CH incidence. Annual CH incidence was modelled with Prais-Winsten regression to correct for first-order autocorrelation; additional models assessed trends in gestational age, sex, biochemical markers, and aetiological subtypes. We identified 1550 CH cases, giving a mean incidence of 4.9 per 10,000 live births and a significant yearly increase of 0.067 per 10,000 (95 % CI 0.037-0.098; <i>p</i> < 0.001). Mild cases (confirmation TSH < 20 mU/L) rose (+0.89 percentage points per year; <i>p</i> = 0.002). The program's recall was low (0.05%). Over time, screening and diagnostic TSH values declined, total and free T4 concentrations rose, gestational age at diagnosis fell, and a shift from thyroid ectopy toward hypoplasia emerged; no regional differences were detected. The sustained increase in CH incidence, alongside falling TSH thresholds and growing detection of in situ glands, suggests enhanced recognition of milder disease. Ongoing surveillance should integrate environmental, iodine-nutrition, and genetic factors to clarify the causes of this trend.

International Journal of Neonatal ScreeningVol. 11(3)
Pontificia Universidad Católica de Chile (CL), Instituto de Salud Pública de Chile (CL), Hospital San Juan de Dios (CL), University of Chile (CL)
Openalex Percentile: Top 74%
Neonatal Health and Biochemistry
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