Journal Article

Incidence of Congenital Hypothyroidism Is Increasing in Chile

Perez, Maria Virginia, Valdebenito, Susana, Donoso, Gilda, Cavada, Gabriel, Lobo, Gabriel, Grob, Francisca

2025

Overview

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; p < 0.001). Mild cases (confirmation TSH < 20 mU/L) rose (+0.89 percentage points per year; p = 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.

• Publisher: MDPI AG,MDPI
• Subject: Congenital diseases / congenital hypothyroidism / Etiology / Genetic disorders / Gestational age / Hypothyroidism / incidence trends / Infants (Newborn) / Medical screening / mild CH / Multiple births / Newborn babies / newborn screening / Premature babies / Public health / Scintigraphy / Thyroid gland / Thyroid hormones / thyroid-stimulating hormone / time-series analysis / Trends