Living with Peripheral resistance to thyroid hormones
A condition present from birth in which the body's tissues don't respond well to thyroid hormone; most people have no symptoms.
Understanding Peripheral resistance to thyroid hormones
Most people have no symptoms. Some have features of an underactive thyroid, such as sleeping more, feeding trouble, constipation, and low muscle tone. Babies can have prolonged jaundice, a large tongue, large soft spots on the skull, and a swollen belly with a hernia at the belly button.
Signs & symptoms
GARD doesn't list specific symptoms, but the summary describes these, which some people have:
- Less activity and more sleep
- Feeding trouble and constipation
- Jaundice that lasts longer
- Large soft spots on the skull
- Large tongue
- Low muscle tone
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
In 90% of cases, GARD says it is caused by dominantly inherited changes in the gene for thyroid hormone receptor beta.
Also known as: peripheral resistance to thyroid hormone
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 Peripheral resistance to thyroid hormones.
Explore research for Peripheral resistance to thyroid hormones
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- Eligibility is confirmed by the study team
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