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- Title
Congenital hypothyroidism and hearing loss without inner ear malformation: Think TPO.
- Authors
Ziegler, Alban; Denommé‐Pichon, Anne‐Sophie; Boucher, Sophie; Bouzamondo, Nathalie; Colin, Estelle; Dieu, Xavier; Jean Yves, Tanguy; Bouhours, Natacha; Rouleau, Stéphanie; Coutant, Régis; Rodien, Patrice; Prunier, Delphine; Bonneau, Dominique
- Abstract
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.
- Subjects
CONGENITAL hypothyroidism; HEARING disorders; INNER ear
- Publication
Clinical Genetics, 2021, Vol 99, Issue 4, p604
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.13902