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Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.
Estimated prevalence: 1-9 in 100,000 (Uncommon).
No clinical trials have been registered for thyroid hypoplasia.
4 publications have been identified in PubMed for thyroid hypoplasia. Research spans Case Report / Case Series (50%), Other (25%), and Review / Meta-Analysis (25%).
Çetin K (2025). [PMID: 40959820](https://pubmed.ncbi.nlm.nih.gov/40959820/). *Turkish archives of pediatrics*. [Case Report / Case Series]
Cavarzere P (2025). [PMID: 41024235](https://pubmed.ncbi.nlm.nih.gov/41024235/). *Italian journal of pediatrics*. [Other]
Ricci V (2025). [PMID: 41262259](https://pubmed.ncbi.nlm.nih.gov/41262259/). *Frontiers in endocrinology*. [Review / Meta-Analysis]
Butt N (2025). [PMID: 41234952](https://pubmed.ncbi.nlm.nih.gov/41234952/). *Cureus*. [Case Report / Case Series]
Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 12:37 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center