The TRHRgene encodes the TRH receptor which is located in the pituitary gland. TRH, produced in the hypothalamus, stimulates the pituitary gland to produce TSH. TSH in turn stimulates the thyroid gland to produce thyroid hormone. Genetic defects in TRHRlead to insufficient stimulation of the TSH producing cells in the pituitary gland, causing central hypothyroidism. The condition is inherited in autosomal recessive manner which means affected individuals have two defective TRHRgenes. Carriers of one TRHRgene defect are asymptomatic.
TRHR