Pendred Syndrome

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Pendred Syndrome

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Topics include Title and
Deafness with Goiter
Goiter - Deafness S.
Thyroid Hormone Organification Defect
Thyroid Hormonogenesis, Genetic Defect IN

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Pendred Syndrome

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[P] For Professionals
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[Ukrainian]

[*] [P] PENDRED SYNDROME
Alternative titles; symbols
THYROID HORMONOGENESIS, GENETIC DEFECT IN
THYROID HORMONE ORGANIFICATION DEFECT
DEAFNESS WITH GOITER
GOITER - DEAFNESS SYNDROME
PENDRIN
from OMIM
Gene Map Locus: 7q31
A mild type of organification defect is associated with congenital deafness. Patients show only partial discharge of iodide (25 to 50%) when thiocyanate or perchlorate is given ... Their thyroids are moderately enlarged from childhood ...
Cremers et al. (1998) described a boy ... sensorineural hearing loss progressed rapidly from about 50 to 60 decibels at the age of 3 years and 3 months to more than 100 decibels at the age of 4 years and 4 months ... led to discovery of dysplasia of the cochlea and a widened vestibular aqueduct ...
... Deficiency ... distal coils of the cochlea ( Mondini deformity ) was found to be common but probably not a constant feature ...
HISTORY
This syndrome was described by Vaughan Pendred (1896). It was exactly a century later that Coyle et al. (1996) and Sheffield et al. (1996) showed that the disorder maps to chromosome 7q.

[*] [P] Pendred Syndrome
( Autosomal Recessive Sensorineural Hearing Impairment and Goiter )
by RJH Smith, MD, et al. July 20, 1998.
from GeneClinics
Pendred syndrome is characterized by congenital, non - progressive, severe - to - profound sensorineural hearing impairment and late childhood onset of goiter, usually with normal thyroid function ...
Diagnosis / testing ... Diagnosed in individuals with (1) hearing impairment that is congenital, non - progressive, and most often severe - to - profound; (2) Mondini malformation of the cochlea or dilation of the vestibular aqueduct; and (3) an abnormal perchlorate discharge test ... PDS gene ( chromosomal locus 7q22 - q31 ) can be detected in approximately 75% of cases. DNA - based mutation analysis is available clinically.
Genetic counseling. Pendred syndrome is an autosomal recessive disorder ...
Radiological evaluation of the temporal bones is abnormal in 85% of cases ... A Mondini malformation in which the bony labyrinth has 1-1/2 cochlear turns as opposed to the normal 2-3/4 turns. In addition, bilateral dilation of the vestibular aqueducts can be seen ... 75% of cases have evidence of goiter on clinical examination ... No instances of abnormal thyroid function studies in the absence of a goiter have been reported ...
... Prevalence of Pendred syndrome is unknown ... Accounts for 7.5% of all congenital deafness. If the data are representative, then Pendred syndrome is a very common ... Contemporary studies do not support this estimate ...
Differential Diagnosis
Congenital ( or prelingual ) inherited hearing impairment affects approximately one of 2,000 newborns. Thirty percent of these babies have additional anomalies ...

Pendred Syndrome
by NCBI - NIH.
Pendred Syndrome is an inherited disorder that accounts for as much as 10% of hereditary deafness. Patients usually also suffer from thyroid goiter ... Pendred Syndrome ... confounded scientists for more than a century ... In December of 1997, scientists at NIH's National Human Genome Research Institute used the physical map of human chromosome 7 to help identify an altered gene thought to cause Pendred syndrome ...

Pendred Syndrome
A fact sheet for specialists in Ukrainian
Main diagnostic criteria ... Diagnosis and differential diagnosis ... Etiology ... Type of inheritance ... Pathogenesis ... Age of manifestation ... Prognosis ... Treatment ... Care ... Prevention ... OMIM number ...

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29/June/2003 sl

Special ResourcesPendred Syndrome

Special Resources

Pendred Syndrome