Living with Hypothyroidism due to iodide transport defect
An underactive thyroid in which the thyroid has trouble taking in iodide, linked to changes in the SLC5A5 gene.
Understanding Hypothyroidism due to iodide transport defect
Iodide is needed to make thyroid hormone. The thyroid's follicular cells do not bring in enough of it. GARD says inactivating changes in the SLC5A5 gene, which makes the sodium-iodide symporter, are responsible.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet.
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Inactivating changes in the SLC5A5 gene, which makes the sodium-iodide symporter, are responsible for this condition.
Also known as: gdth i; genetic defect in thyroid hormonogenesis i; hypothyroidism due to iodide concentration defect; iodide transport defect; iodide transport failure; iodine accumulation defect
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hypothyroidism due to iodide transport defect.
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