A systematic review by Lueblinghoff et al. (2010) analyzed 14 cases of sporadic nonautoimmune congenital hyperthyroidism (SNAH) caused by activating TSH receptor mutations [13]. Despite wide variability in clinical presentation and treatment outcomes, no consistent correlation was found between the mutation’s in vitro activity and disease severity. The gene discussed is TSHR; the disease is familial hyperthyroidism due to mutations in TSH receptor.