Overview
Resistance to thyroid hormone beta (RTHβ), also called thyroid hormone receptor beta resistance or RTH-beta, is a rare genetic condition where the body's cells do not respond normally to thyroid hormone. This happens because of a mutation in the THRB gene, which provides instructions for making the thyroid hormone receptor beta protein. This protein acts like a lock that thyroid hormone (the key) must fit into to work properly. When the receptor is faulty, cells act as if there is not enough thyroid hormone, even when blood levels are normal or even high. Because the body senses a lack of response, the thyroid gland works harder and produces more hormone than usual. This leads to high levels of thyroid hormone in the blood, but the body still cannot use it correctly in certain tissues. The result is a confusing mix of symptoms — some that look like an overactive thyroid (such as a fast heart rate) and some that look like an underactive thyroid (such as fatigue or learning difficulties). Symptoms vary widely from person to person. Many people have a goiter (enlarged thyroid gland), attention and learning difficulties, a fast heart rate, and delayed bone development in childhood. Some people have very mild symptoms and are only diagnosed by chance during routine blood tests. Treatment focuses on managing specific symptoms, since there is no single cure. Medications can help control heart rate or other troublesome symptoms, and careful monitoring by a specialist team is important throughout life.
Also known as:
Key symptoms:
Enlarged thyroid gland (goiter)Fast or irregular heartbeat (palpitations)Attention deficit and hyperactivity (ADHD-like symptoms)Learning difficulties or intellectual challengesDelayed growth and bone development in childrenFatigue and low energyDifficulty concentratingAnxiety or nervousnessHearing loss (in some cases)Recurrent ear infections in childhoodShort stature in some childrenWeight problems (can be underweight or have difficulty gaining weight)Sleep disturbances
Clinical phenotype terms (20)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
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Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific mutation do I (or my child) have in the THRB gene, and what does that mean for my symptoms and outlook?,Should other family members be tested, and how do we arrange that?,Is my heart rate a concern, and do I need a cardiologist involved in my care?,What treatments are available for my specific symptoms, and what are the risks and benefits of each?,Are there any treatments I should absolutely avoid because they could make things worse?,How often do I need blood tests and specialist check-ups?,Are there any clinical trials or new treatments I should know about?
Common questions about Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
What is Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta?
Resistance to thyroid hormone beta (RTHβ), also called thyroid hormone receptor beta resistance or RTH-beta, is a rare genetic condition where the body's cells do not respond normally to thyroid hormone. This happens because of a mutation in the THRB gene, which provides instructions for making the thyroid hormone receptor beta protein. This protein acts like a lock that thyroid hormone (the key) must fit into to work properly. When the receptor is faulty, cells act as if there is not enough thyroid hormone, even when blood levels are normal or even high. Because the body senses a lack of res
How is Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta inherited?
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.