Pendred syndrome

(redirected from Pendred's Syndrome)

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.

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.

Pendred syndrome

Endocrinology Hereditary association of congenital deafness and goiter due to a defect in thyroid hormone production. See Goiter. Cf Hypothyroidism.

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.

Pendred,

Vaughan, English surgeon, 1869-1946.
Pendred syndrome - a type of familial goiter.
References in periodicals archive ?
A novel mutation in the pendrin gene associated with Pendred's syndrome.
Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome.
Do not overlook Pendred's syndrome in children with sensorineural hearing loss
1-4] To draw attention to Pendred's syndrome in children with SNHL, we summarize our findings in five such children.
In patients with Pendred's syndrome, congenital SNHL is present at birth; it is severe in half of all cases.
We wish to stress that Pendred's syndrome should be considered in all children who have SNHL.
Usually born deaf, though the hearing loss sometimes occurs during childhood, people with Pendred's syndrome also develop goiter, an enlarged thyroid gland, around puberty.
In 1996, two research groups that had studied large, inbred families exhibiting Pendred's syndrome reported that they had mapped the responsible gene to chromosome 7.
Preliminary experiments suggest that it is also active in the developing fetal cochlea, which may explain the deafness associated with Pendred's syndrome.