Living with Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
A rare genetic thyroid-related condition with a wide range of effects, from a slow metabolism and constipation to delayed development.
Understanding Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
GARD describes it as a rare form of congenital hypothyroidism (low thyroid function from birth). It looks very different from person to person. Some people have only minimal signs, while others have several body systems affected. Symptoms may be noticed at any time in life.
Signs & symptoms
Symptoms vary a lot from person to person. GARD lists these as common features:
- Slower metabolic rate
- Slow heart rate (bradycardia)
- Long-lasting constipation
- Delayed development of the brain and nervous system
- Delayed bone age and bone differences
- Broad face, flat nose, large tongue, thick lips
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
Specialists who may be involved include genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in THRA are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- 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
It is caused by changes in the THRA gene. It is inherited in an autosomal dominant way, so one changed copy of the gene can be enough to cause it.
Also known as: resistance to thyroid hormone alpha; resistance to thyroid hormone due to a mutation in tra; resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha; resistance to thyroid hormone due to mutation in tra; rtha
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 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha.
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