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Familial hyperthyroidism due to mutations in TSH receptor

Disease 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.


Classification level: Disorder
  • Synonym(s):
    • Familial non-immune hyperthyroidism
    • Resistance to thyroid stimulating hormone
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: E05.8
  • OMIM: 609152
  • UMLS: -
  • MeSH: -
  • GARD: 2858
  • MedDRA: -
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