Pendred syndrome

Also known as: Deafness with goiter

Sensorineural hearing loss with goiter and abnormal perchlorate discharge test.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Thyroid disorders
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, hearing loss congenital
Gene(s) involved: FOXI1, KCNJ10, SLC26A4

Etiology & mechanism

Pendrin transporter defect.

Gene(s) involved (3)

FOXI1KCNJ10SLC26A4

Symptoms & signs (5)

congenital sensorineural deafnessenlarged vestibular aqueductgoitermild hypothyroidismvertigo

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.