OBSOLETE: Peripheral hypothyroidism

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ORPHA:226310
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Overview

Peripheral hypothyroidism is a term that was previously used to describe a condition where the thyroid hormones produced by the thyroid gland do not work properly in the body's tissues, even though the thyroid gland itself may be functioning normally. This is different from the more common forms of hypothyroidism, where the thyroid gland does not produce enough hormones. In peripheral hypothyroidism, the problem lies in how the body's cells respond to or process thyroid hormones after they are released into the bloodstream. This can involve problems with thyroid hormone transport in the blood, issues with how cells take up the hormones, or defects in the receptors inside cells that thyroid hormones need to bind to in order to work. Please note that this disease entry has been marked as OBSOLETE in the Orphanet classification system, meaning it has been retired or reclassified. The conditions previously grouped under this term are now more precisely categorized into specific diagnoses such as thyroid hormone resistance syndromes (including resistance to thyroid hormone beta and alpha), thyroid hormone metabolism defects, and thyroid hormone transport defects. Symptoms can resemble those of hypothyroidism — such as fatigue, weight gain, cold intolerance, constipation, and slowed growth in children — but blood test results may look unusual compared to typical hypothyroidism. Treatment depends on the specific underlying cause and may include thyroid hormone supplementation or other targeted therapies.

Key symptoms:

Fatigue and low energyWeight gain or difficulty losing weightFeeling cold when others are comfortableConstipationDry skin and hairSlow growth in childrenDelayed pubertyIntellectual disability or learning difficulties in some formsSlow heart rateMuscle weaknessPuffy face or swellingDepression or mood changesHearing problems in some formsElevated or unusual thyroid hormone levels on blood tests

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Peripheral hypothyroidism.

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No actively recruiting trials found for OBSOLETE: Peripheral hypothyroidism at this time.

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Search ClinicalTrials.gov ↗Join the OBSOLETE: Peripheral hypothyroidism community →

No specialists are currently listed for OBSOLETE: Peripheral hypothyroidism.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to OBSOLETE: Peripheral hypothyroidism.

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Community

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Latest news about OBSOLETE: Peripheral hypothyroidism

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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 type of peripheral hypothyroidism or thyroid hormone resistance do I or my child have?,Is genetic testing recommended, and which genes should be tested?,Will standard thyroid hormone replacement medication work for this condition?,What specialists should be part of our care team?,Are there any clinical trials or newer treatments available for this specific condition?,How will this condition affect growth, development, and long-term health?,Should other family members be tested for this condition?

Common questions about OBSOLETE: Peripheral hypothyroidism

What is OBSOLETE: Peripheral hypothyroidism?

Peripheral hypothyroidism is a term that was previously used to describe a condition where the thyroid hormones produced by the thyroid gland do not work properly in the body's tissues, even though the thyroid gland itself may be functioning normally. This is different from the more common forms of hypothyroidism, where the thyroid gland does not produce enough hormones. In peripheral hypothyroidism, the problem lies in how the body's cells respond to or process thyroid hormones after they are released into the bloodstream. This can involve problems with thyroid hormone transport in the blood,