TSHBdeficiency was first described in 1989 and is an extremely rare cause of congenital central hypothyroidism . Precise prevalence is unknown but estimated at 1 per 100 000 to 1 per 1 000 000 based on orphan disease registries. Most reported cases stem from consanguineous families or small pedigrees due to recessive inheritance and rarity of pathogenic alleles.
TSHB