Familial hyperthyroidism due to mutations in TSH receptor
Familial hyperthyroidism due to mutations in TSH receptor
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.
Also known as familial non-immune hyperthyroidism, resistance to thyroid stimulating hormone — per MONDO