Congenital hypothyroidism and hearing loss without inner ear malformation: Think TPO.

GLO:8DU/01apr21:cge13902-toc-0001.jpg PHOTO (COLOR): . gl Biallelic mutations in I TPO i are responsible for thyroid dyshormonogenesis type 2A (TDH2A, MIM: 274500), an autosomal recessive disorder. Moreover, the sensorineural deafness in PDS is generally congenital or pre-lingual, severe to profound, with possible sudden worsening and is occasionally associated with vestibular syndrome, whereas in I TPO i -related deafness, hearing loss is mild to moderate. [Extracted from the article]