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Familial hyperthyroidism due to mutations in TSH receptor

Synonym(s) Familial non-immune hyperthyroidism
Resistance to thyroid stimulating hormone
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset All ages
  • E05.8
MeSH -
MedDRA -


Disease definition

Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism (see this term) characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.

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