Pendred syndrome

The Pendred syndrome is an autosomal recessive disorder. A characteristic feature is the existence of a (usually severe ) sensorineural hearing loss, hypoplasia of the cochlea ( cochlear ) and a goiter with iodine - failure recovery, often later also an underactive thyroid (hypothyroidism ), while in early childhood often have a normal thyroid function ( euthyroid ) present.

The Pendred syndrome was in 1896 by Vaughan Pendred ( 1869-1946 ) first described.

In Pendred syndrome, thyroid peroxidase missing an enzyme in Iodstoffwechsel the thyroid gland. There is a genetic linkage between the Pendred syndrome and Pendrin gene ( PDS), which is localized on chromosome 7 ( 7q31 ), and encoding a transporter protein iodine.

Epidemiology

With about five percent of cases, the Pendred syndrome is considered to be common hereditary hearing impairment and the most common syndromic hearing impairment. Four to ten percent of all children with congenital deafness suffering from Pendred syndrome, the frequency varies regionally ( 1:15,000 British Isles, Scandinavia 1:100,000).

In the German central register of pediatric hearing loss in 2002 fifteen confirmed cases and two suspected cases were registered, this corresponded to a relative frequency of 0.33%.

Diagnosis and differential diagnosis

The diagnosis is usually made based on history and family history, as well as the clinical picture. Method of choice for the detection of Pendred syndrome is the perchlorate depletion test. The differential diagnosis must in deafness and goiter also acquired hypothyroidism, which are thought Refetoff -de- wind -de- Groot 's syndrome and the Newell - Diddle syndrome.