Pendred Syndrome

info · Syndrome · ICD-10: E07.1

A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q.

Signs and symptoms

Congenital sensorineural hearing impairment
Goiter
Elevated circulating thyroglobulin concentration
Abnormal vestibular function
Thyroid carcinoma
Cochlear malformation
Compensated hypothyroidism
Intellectual disability

Also known as: TDH2B; congenital hypothyroidism due to dyshormonogenesis 2B; deafness with goiter; genetic defect in thyroid hormonogenesis 2B; goiter-deafness syndrome