PENDRED SYNDROME
Victor A. McKusick, OMIM, Johns Hopkins University, August 9, 2007
 [for Professionals mainly]
Alternative titles; symbols
THYROID HORMONOGENESIS, GENETIC DEFECT IN
THYROID HORMONE ORGANIFICATION DEFECT
DEAFNESS WITH GOITER
GOITER - DEAFNESS SYNDROME
PENDRIN
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.
Pendred Syndrome
RJH Smith, MD, et al., GeneClinics, August 31, 2006
[for Professionals mainly]
( Autosomal Recessive Sensorineural Hearing Impairment and Goiter )
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
NCBI, National Institutes of Health
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 ...
La tiroides como modelo de mecanismos moleculares en enfermedades genética
Carina M. Rivolta et al., Medicina (B. Aires) v.65 n.3 Buenos Aires mayo/jun. 2005
[Spanish]
Las enfermedades tiroideas constituyen una heterogénea colección de anormalidades asociadas a mutaciones en los genes responsables en el desarrollo de la tiroides: factor de transcripción tiroideo 1 (TTF-1), factor de transcripción tiroideo 2 (TTF-2) y PAX8, o en uno de los genes que codifican para las proteínas involucradas en la biosíntesis de hormonas tiroideas como tiroglobulina (TG), tiroperoxidasa (TPO), sistema de generación de peróxido de hidrógeno (DUOX2), cotransportdor de Na/I– (NIS), pendrina (PDS), TSH y receptor de TSH. El hipotiroidismo congénito ocurre con una prevalencia de 1 en 4.000 nacidos. Los pacientes con este síndrome pueden ser divididos en dos grupos: con hipotiroidismo congénito sin bocio (disembriogénesis) o con bocio (dishormonogénesis). El grupo de disembriogénesis, que corresponde al 85% de los casos, resulta de ectopía, agenesia o hipoplasia. En una minoría de estos pacientes, el hipotiroidismo congénito está asociado con mutaciones en los genes TTF-1, TTF-2, PAX-8, TSH o TSHr. La presencia de bocio congénito (15% de los casos) se ha asociado a mutaciones en los genes NIS, TG, TPO, DUOX2 o PDS. El hipotiroidismo congénito por dishormonogénesis es trasmitido en forma autonómica recesiva. Mutaciones somáticas en el TSHr han sido identificadas en adenomas tiroideos hiperfuncionantes. Otra enfermedad tiroidea bien establecida es la resistencia a hormonas tiroideas (RTH). Es un síndrome de reducida respuesta tisular a la acción hormonal causado por mutaciones localizadas en el gen del receptor b de hormonas tiroideas (TRb). Mutantes de TRb interfieren con la función del receptor normal por un mecanismo de dominancia negativa. En conclusión, la identificación de mutaciones en los genes de expresión tiroidea ha permitido un mayor entendimiento sobre la relación estructura-función de los mismos. La tiroides constituye un excelente modelo para el estudio molecular de las enfermedades genéticas ...
Pendred Syndrome
I.B.I.S. Birth Defects, June 29, 2003
[Ukrainian]
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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Last Updated: 2008/2/20
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