/familial hyperthyroidism due to mutations in TSH receptor

familial hyperthyroidism due to mutations in TSH receptor

Rare Disease

MONDO:0012203

Also Known As

familial non-immune hyperthyroidismresistance to thyroid stimulating hormoneNonautoimmune hyperthyroidismhyperthyroidism, NONAUTOIMMUNEhyperthyroidism, Nonautoimmune, autosomal dominanthyperthyroidism, congenital Nonautoimmunetoxic thyroid hyperplasia, autosomal dominant

Definition

Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is 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.