Living with Hypothyroidism due to TSH receptor mutations
A lasting underactive thyroid present from birth, because the thyroid does not respond to TSH.
Understanding Hypothyroidism due to TSH receptor mutations
It is a permanent thyroid hormone shortage present from birth. The thyroid does not respond well to thyroid-stimulating hormone (TSH). It is seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Underactive thyroid from birth
- Low thyroid hormone (T4)
- High TSH
- Prolonged jaundice in newborns
- Reduced iodine uptake
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 TSHR 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
Changes in the TSHR gene cause this condition. GARD lists autosomal dominant and autosomal recessive inheritance.
Also known as: chng1; congenital hypothyroidism due to thyroid stimulating hormone receptor mutation; hypothyroidism due to tsh receptor mutation; hypothyroidism due to tshr (thyroid stimulating hormone receptor) mutation; hypothyroidism due to unresponsiveness to thyrotropin; hypothyroidism, congenital, due to tsh resistance
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 TSH receptor mutations.
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