Article
TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study.
The Journal of clinical endocrinology and metabolism - 1 Apr 2009
Narumi Satoshi, Muroya Koji, Abe Yoichiro, Yasui Masato, Asakura Yumi, Adachi Masanori, Hasegawa Tomonobu
Abstract excerpt
CONTEXT: The prevalence of congenital hypothyroidism (CH) associated with mutations in the TSH receptor gene (TSHR) has not been established. OBJECTIVE: We examined the frequency of TSHR mutations among patients with permanent primary CH and in the general population in Japan. SUBJECTS AND METHODS: We enrolled 102 patients with permanent primary CH [70 with "moderate to severe CH" (TSH, >or=10 mU/liter) and 32...
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