Living with Familial hyperthyroidism due to mutations in TSH receptor
A rare inherited overactive thyroid with goiter that often returns during treatment.
Understanding Familial hyperthyroidism due to mutations in TSH receptor
It ranges from mild to severe, with a goiter (enlarged thyroid). It does not involve autoimmunity. It often comes back during treatment. It can appear at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Overactive thyroid (hyperthyroidism)
- Enlarged thyroid (goiter)
- Hand tremor
- Weight loss
- Trouble sleeping
- Hyperactivity
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, hormone specialists and kidney 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); Kidney specialists (nephrologists)
- 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 National Kidney Foundation and other patient organizations
- 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. It is autosomal dominant, which means a change in one copy of the gene can cause it.
Also known as: familial non-immune hyperthyroidism; hyperthyroidism, congenital nonautoimmune; hyperthyroidism, nonautoimmune, autosomal dominant; resistance to thyroid stimulating hormone; toxic thyroid hyperplasia, autosomal dominant
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial hyperthyroidism due to mutations in TSH receptor.
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