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Familial hyperthyroidism due to mutations in TSH receptor

Orpha number ORPHA424
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
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

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.

Expert reviewer(s)

  • Pr Diego RUSSO

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Detailed information

Clinical practice guidelines
  • DE (2011)
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