ReviewEuropean thyroid journal2025
50 YEARS OF NEWBORN SCREENING FOR CONGENITAL HYPOTHYROIDISM: EVOLUTION OF INSIGHTS IN ETIOLOGY, DIAGNOSIS AND MANAGEMENT: Transient or permanent congenital hypothyroidism: from milestones to current and future perspectives.
Review in European thyroid journal, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Genetic screening and functional characterization ofJournal of the Endocrine Society · 2026Article
- Review
- Epidemiological characteristics of congenital hypothyroidism and risk factors for permanent congenital hypothyroidism in Gansu, China.BMC pediatrics · 2026Article
- Patterns of thyroid dysfunction in children with trisomy 21: an observational study.BMC pediatrics · 2026Observational
- Preterm heart failure and refractory lactic acidosis caused by congenital hypothyroidism: A case report and review of literature.World journal of clinical cases · 2026Article
- Celebrating 50 Years of Nationwide Newborn Screening in Hungary-Review, Current Situation, and Future Directions.International journal of neonatal screening · 2025Review
- Term birth and levothyroxine dosage are significant factors associated with permanent congenital hypothyroidism: experience from a medical center in Taiwan.BMC pediatrics · 2025Article
Corrections and comments
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Authors and funding
4 authors.
Funding
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Abstract
Primary congenital hypothyroidism (CH) is the most common endocrinopathy of developmental age. In recent years, several studies from different countries have reported a significant increase in CH incidence detected by newborn screening programs, primarily 'mild' forms of CH with gland in situ (GIS). However, more than one-third of affected children with GIS present transient CH and recover endogenous thyroid function in early childhood, permitting the cessation of levothyroxine treatment by the end of the third year of life. Therefore, in CH patients with GIS, a clinical and biochemical reassessment is needed to determine whether the hypothyroidism is transient or permanent and to search for the underlying causes of the thyroid defect. Despite the presence of consensus guidelines for the management of CH in pediatric age, the screening strategy and management of the disease, especially at re-evaluation, differ significantly between centers and present some points of discussion. The following review summarizes the main pathophysiological mechanisms of transient and permanent forms of CH, also underlining the importance of new genetic tools in order to guarantee each patient the best diagnostic and therapeutic approach.
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