Component
Dyshormonogenic hypothyroidism
Dyshormonogenic hypothyroidism
1 recorded relationships. Experimental role, claim status and evidence remain attached to each record.
How nutrients influence it
Every nutrient with a recorded effect on this component, credited to the nutrient that acted rather than the chapter that recorded it. Open a nutrient to see the findings and the conditions they were measured under.
Other things that act on it
Enzymes, hormones, genes, and other components with a recorded effect. These are not nutrients, so they do not count toward the arrows above. Each finding names the chapter that recorded it.
How nutrients reach it in more than one step
Chains of two or more recorded steps that end here, grouped by the nutrient they start from. Each step is a separate finding, so a chain is a route a mechanism could take, not proof that it does.
Tracing routes…
What it does
Every recorded relationship this component is part of, grouped by its role. Plain wording comes first; the technical statement follows.
What acts on it
The homozygous DUOXA2 Y246X proband had congenital hypothyroidism with goiter and partial iodine-organification impairment.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- cross_nutrient
- false
- evidence_span
- {"source_cache": "artifacts/iodine-synthesis-sources/18042646.json", "json_field": "abstractText", "text_sha256": "99a0667a0a4036b9ad94f59e6ba82a4c80c7f4b4228f11029f63db5c5b811da7", "text_characters": 1847, "note": "Exact publisher passage retained in the cited local source cache; locator and digest supplied here."}
- experimental_model
- Human genetic case finding and heterologous DUOX2 reconstitution
- exposure
- Inherited homozygous Y246X; no dietary manipulation.
- limitations
- Single proband; heterozygotes in the family were euthyroid.
- nutrient_topic
- Iodine research collection; topical membership is not evidence of a direct dietary effect. · Iodine
- organism
- Homo sapiens
- plain_language
- The enzyme-helper defect was linked to impaired hormone production from birth.
- primary_references
- [iodine-syn-duoxa2008] Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. (2008). https://pubmed.ncbi.nlm.nih.gov/18042646/ DOI: 10.1210/jc.2007-2020
- tissue_or_cell_type
- Thyroid
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Iodine: thyroid hormone production, deficiency, excess and nutrient interactions (2026-09-17) · lines 548–560
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Human genetic case finding and heterologous DUOX2 reconstitution · source_derived_draft · unverified_draft
### iodine-syn-duoxa-mutant-phenotype The homozygous DUOXA2 Y246X proband had congenital hypothyroidism with goiter and partial iodine-organification impairment. Condition category: machinery_impairment nutrient_topic: Iodine research collection; topical membership is not evidence of a direct dietary effect. plain_language: The enzyme-helper defect was linked to impaired hormone production from birth. organism: Homo sapiens tissue_or_cell_type: Thyroid experimental_model: Human genetic case finding and heterologous DUOX2 reconstitution limitations: Single proband; heterozygotes in the family were euthyroid. exposure: Inherited homozygous Y246X; no dietary manipulation. cross_nutrient: false evidence_span: {"source_cache": "artifacts/iodine-synthesis-sources/18042646.json", "json_field": "abstractText", "text_sha256": "99a0667a0a4036b9ad94f59e6ba82a4c80c7f4b4228f11029f63db5c5b811da7", "text_characters": 1847, "note": "Exact publisher passage retained in the cited local source cache; locator and digest supplied here."} [iodine-syn-duoxa2008] Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. (2008). https://pubmed.ncbi.nlm.nih.gov/18042646/ DOI: 10.1210/jc.2007-2020
Complete structured claim and evidence
The events it takes part in
A mechanism often involves more than two components. These are the full events, with every participant and its role.
Situations it appears in
Low-supply and faulty-machinery situations recorded in the chapters where this component plays a part.
In the sources
Preserved passages that mention this component, quoted exactly. Open one to read it in context.
Open hypotheses
Proposed ideas that involve this component. They are labeled as hypotheses and do not change any recorded statement.
This is a research prototype built from draft material. It is not medical advice, and its statements still await verification against the original studies.