Mai Mori

Paternally Inherited DIO3 Loss and Infantile-Onset Central Hypothyroidism: Human Evidence for a Novel Mechanism of Hypothalamic–Pituitary–Thyroid Axis Dysregulation

Background: DIO3 encodes type 3 iodothyronine deiodinase, the major thyroid hormone-inactivating enzyme, and is an imprinted gene with preferential paternal-allele expression demonstrated in human neonatal skin. Dio3 -deficient mice develop neonatal thyrotoxicosis followed by cen...