Familial hyperthyroidism due to mutations in TSH receptor
ORPHA:424· ICD-10 E05.8
Definition
A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant
- Age of onset
- All ages