title: [Congenital central hypothyroidism due to the mutations of the thyrotropin-releasing hormone receptor gene].
abstract: 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.
authors.affiliation: First Department of Internal Medicine, Gunma University School of Medicine.
authors.forename: Masanobu
authors.initials: M
authors.lastname: Yamada
authors.forename: Masatomo
authors.initials: M
authors.lastname: Mori
mesh_terms: D003409:Congenital Hypothyroidism; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics*; D008297:Male; D009154:Mutation; D018025:Receptors, Thyrotropin-Releasing Hormone / Q000235:genetics*
chemical_list: D018025:Receptors, Thyrotropin-Releasing Hormone