Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.
Biomarker and diagnostic research for familial thyroid dyshormonogenesis has been reported in the published literature.
Estimated prevalence: 1-9 in 100,000 (Uncommon).
1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
44 publications have been identified in PubMed for familial thyroid dyshormonogenesis. Research spans Basic Science / Preclinical (34%), Case Report / Case Series (30%), and Review / Meta-Analysis (16%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 15 | 34% |
Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 6:12 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Patient case studies |
13 |
30% |
Research summaries | 7 | 16% |
Disease patterns and progression | 6 | 14% |
Testing and diagnosis research | 2 | 5% |
Other research | 1 | 2% |
Nguyen Quoc A (2026). [PMID: 42170892](https://pubmed.ncbi.nlm.nih.gov/42170892/). *J Clin Endocrinol Metab*. [Review / Meta-Analysis]
Kurnaz E (2026). [PMID: 39378853](https://pubmed.ncbi.nlm.nih.gov/39378853/). *Horm Res Paediatr*. [Epidemiology / Natural History]
Gillotay P (2026). [PMID: 42097882](https://pubmed.ncbi.nlm.nih.gov/42097882/). *Life Sci Alliance*. [Basic Science / Preclinical]
Gawandi S (2026). [PMID: 41675115](https://pubmed.ncbi.nlm.nih.gov/41675115/). *Indian J Clin Biochem*. [Review / Meta-Analysis]
Islam MS (2026). [PMID: 41004687](https://pubmed.ncbi.nlm.nih.gov/41004687/). *J Clin Endocrinol Metab*. [Basic Science / Preclinical]
Yıldız M (2026). [PMID: 41988830](https://pubmed.ncbi.nlm.nih.gov/41988830/). *Pediatr Int*. [Case Report / Case Series]
Choong IEX (2026). [PMID: 42147080](https://pubmed.ncbi.nlm.nih.gov/42147080/). *JCEM Case Rep*. [Case Report / Case Series]
Niuro L (2026). [PMID: 41791885](https://pubmed.ncbi.nlm.nih.gov/41791885/). *Thyroid*. [Basic Science / Preclinical]
Liang SB (2026). [PMID: 42181674](https://pubmed.ncbi.nlm.nih.gov/42181674/). *J Endocr Soc*. [Basic Science / Preclinical]
Qi R (2025). [PMID: 41393301](https://pubmed.ncbi.nlm.nih.gov/41393301/). *Front Endocrinol (Lausanne)*. [Review / Meta-Analysis]
AI-curated news mentioning familial thyroid dyshormonogenesis
Updated Sep 11, 2026
A recent study highlights genetic heterogeneity in susceptibility to familial thyroid nodular disease, providing insights into the underlying genetic factors. This research could inform future diagnostic and therapeutic strategies for affected individuals.