Pendred syndrome

(redirected from Deafness with goiter)

Pen·dred syn·drome (PDS),

(pen'drĕd), [MIM*274600]
characterized by congenital sensorineural hearing impairment with goiter (usually small) due to defective organic binding of iodine in the thyroid; afflicted people are usually euthyroid; autosomal recessive inheritance, caused by mutation in the Pendred syndrome gene (PDS) encoding pendrin on chromosome 7q.
Farlex Partner Medical Dictionary © Farlex 2012

Pendred syndrome

An autosomal recessive MIM 274600 condition associated with developmental defects of the cochlea, sensorineural hearing loss and diffuse thyroid enlargement; it is the most common syndromic form of deafness.

Diagnosis
The gold-standard (perchlorate discharge) test is nonspecific, and its sensitivity is unknown.

Pathogenesis
It is caused by mutation in the SLC26A4/PDS.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

Pendred syndrome

Endocrinology Hereditary association of congenital deafness and goiter due to a defect in thyroid hormone production. See Goiter. Cf Hypothyroidism.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

Pen·dred syn·drome

(pen'drĕd sin'drōm)
Characterized by congenital sensorineural hearing impairment with goiter (usually small) due to defective organic binding of iodine in the thyroid; those afflicted are usually euthyroid; autosomal recessive inheritance, caused by mutation in the Pendred syndrome gene (PDS) encoding pendrin on chromosome 7q.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

Pendred,

Vaughan, English surgeon, 1869-1946.
Pendred syndrome - a type of familial goiter.
Medical Eponyms © Farlex 2012
References in periodicals archive ?
Association of congenital deafness with goiter (Pendred's syndrome).

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