[Congenital central hypothyroidism due to the mutations of the thyrotropin-releasing hormone receptor gene].
The TRH receptor gene is a single copy gene containing three exons and two introns and was assigned to the chromosome 8q23. A patient with congenital central hypothyroidism due to the mutations of the thyrotropin-releasing hormone receptor gene has been reported by Collu, et al: in 1997. His sole manifestation was short stature, and his plasma TSH and prolactin levels did not increase in TRH test. He was found to be a compound heterozygote of the mutations of the TRH receptor gene. Expression study using COS1 cells and HEK293 cells revealed that both mutations reduced or abolished the receptor activity.
Yamada
Masanobu
M
First Department of Internal Medicine, Gunma University School of Medicine.
Mori
Masatomo
M
D003409:Congenital Hypothyroidism; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics*; D008297:Male; D009154:Mutation; D018025:Receptors, Thyrotropin-Releasing Hormone / Q000235:genetics*
D018025:Receptors, Thyrotropin-Releasing Hormone