ArticleThe Journal of clinical endocrinology and metabolism2025
Insights Into Central Congenital Hypothyroidism: A Multicenter Retrospective Analysis.
Article in The Journal of clinical endocrinology and metabolism, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Retrospective, multicentre evaluation of central congenital hypothyroidism in the UK.European thyroid journal · 2026Article
- Newborn screening for central congenital hypothyroidism: past, present and future.European thyroid journal · 2025Review
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Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
contextCentral congenital hypothyroidism (CCH) is a thyroid hormone deficiency at birth caused by inadequate pituitary stimulation of the thyroid gland. Although primary congenital hypothyroidism has been studied extensively, studies on CCH are sparse.
objectiveTo assess the prevalence of CCH in Israel and describe its clinical features, neonatal screening results, and outcomes.
methodsThis multicenter cross-sectional retrospective chart review covered 9 pediatric endocrine units throughout Israel; patients diagnosed with CCH in 1987-2021 were categorized into early (within 14 days of life) and late (after 14 days) diagnosis groups. Newborn screening (NBS) results were retrospectively retrieved from the national NBS program dataset.
resultsCCH prevalence in Israel was about 1:42 800 live births. Subjects were 94 patients (54 males), of these, 84% had multiple pituitary hormone deficiencies and 16% had isolated CCH. The median age at diagnosis was 50 days (range, 1-8760), with 66% having moderate to severe hypothyroidism. NBS detected only 3 infants. Early diagnosis occurred in 34% due to hypopituitarism, while 66% were diagnosed later due to growth and developmental delays. Neurodevelopmental sequelae included mental retardation (12%), learning difficulties (18%), delayed speech (27%), and motor clumsiness (19%), with no significant differences in outcomes between early and late diagnosis.
conclusionDespite high rates of neurodevelopmental sequelae, no differences were found between early and late diagnosis groups. Further research is needed to assess the impact of delayed diagnosis on neurological outcomes in newborns with CCH. Improved strategies for detecting CCH in newborns are also necessary.
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