Pendred's Syndrome is also known as Goiter with profound congenital sensorineural deafness.

Characteristics — Hereditary pattern is autosomal recessive transmission.

Endocrine system — A goiter is normally evident before puberty, on the average 8 years of age, but in some cases may be observed at birth.

Auditory system — Variations of hearing loss can occur. The audiometric testing normally shows a congenital bilateral sensorineural loss of hearing more severe for the high frequencies. It is severe in over 50% of the cases. Rarely will the hearing loss be minimal and is most often believed to be present at birth or before 2 years of age. Hearing loss remains stable with little change over the years.

Vestibular system — Caloric vestibular tests generally show depressed vestibular function.

Mental capacity — Mental retardation is noted in some cases, which may be related to thyroid problems at birth.

Patients with Pendred’s Syndrome have a normal life span with adequate thyroxin therapy. Hearing does not change.

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