TSHRMutations as a Cause of Congenital Hypothyroidism in Japan: A Population-Based Genetic Epidemiology Study

The prevalence of congenital hypothyroidism (CH) associated with mutations in the TSH receptor gene (TSHR) has not been established.We examined the frequency of TSHR mutations among patients with permanent primary CH and in the general population in Japan.We enrolled 102 patients with permanent primary CH [70 with "moderate to severe CH" (TSH, >or=10 mU/liter) and 32 with "mild CH" (TSH, 5-10 mU/liter)], who were identified through newborn...