ArticleJournal of the Endocrine Society2026
Genotype-phenotype correlation of biallelic DUOX2 mutations in transient and permanent congenital hypothyroidism.
Article in Journal of the Endocrine Society, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Genotype-phenotype correlation of biallelic DUOX2 mutations in transient and permanent congenital hypothyroidism.Journal of the Endocrine Society · 2026Article
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Authors and funding
7 authors.
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Abstract
Context: Congenital hypothyroidism (CH) due to DUOX2 mutations shows marked clinical heterogeneity. While some patients recover thyroid function during early childhood, others require long-term levothyroxine (LT4) therapy. The determinants of this variability remain unclear. Objective: To determine whether baseline biochemical severity, thyroid morphology, bone maturation, and biallelic DUOX2 variant severity are associated with thyroid function recovery in DUOX2-related CH. Methods: We retrospectively studied 71 patients with biallelic pathogenic DUOX2 variants, classified into 3 outcome groups: LT4 discontinued by age 4 years ( Results: Baseline thyroid function did not differ across groups (TSH Conclusion: Baseline biochemical severity, thyroid volume, bone maturation, and DUOX2 variant severity did not reliably predict recovery in DUOX2-related CH. Substantial within-genotype heterogeneity suggests contributions from compensatory H
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