The TSHBgene encodes the beta subunit of TSH. TSH is produced in the pituitary gland and stimulates the thyroid gland to produce thyroid hormone. Genetic defects in TSHBlead to insufficient stimulation of the thyroid gland, causing central hypothyroidism. The condition is inherited in autosomal recessive manner which means affected individuals have two defective TSHBgenes. Carriers of one TSHBgene defect are asymptomatic.
TSHB