May 29, 2014 slc26a4 pathogenic variants are identified in 50% of either simplex or multiplex families segregating a pendred syndrome or dfnb4 phenotype. This condition not only affects the auditory and gland functions but it also affects the balance due to the affected vestibulocochlear area. Pendred syndrome is a common form of syndromic deafness. Pendred syndrome is the most common form of syndromic deafness, accounting for approximately 510% of hereditary hearing loss. Pendred syndrome is the result of a mutated gene slc26a4 pds which is found on the seventh human chromosome 7q31. This disorder may account for up to 10% of cases of hereditary. Intrafamilial variability of the deafness and goiter phenotype in. Enlarged vestibular aqueduct eva is one of the most commonly identified inner ear malformations in hearing loss patients including pendred syndrome. People with pendred syndrome may need to visit an endocrinologist, who is a specially trained doctor familiar with diseases and disorders that involve the endocrine system, including the thyroid gland. Hoffmanns syndrome hs is a rare manifestation of hypothyroidism myopathy that presents with weakness, stiffness, and eventually pseudohypertrophy of muscles, especially calf muscles. Request pdf pendred syndrome hearing loss with an onset in the pre or perilingual period is a common feature of many hearing loss syndromes, including pendred syndrome ps find, read. We report a case of a 28yearold male who presented with the history of generalized weakness with swelling in lower limbs and gradual progressive facial puffiness for the past few years.
Pendred syndrome isnt curable, but a medical team will work together to encourage informed choices about treatment options. Although the proposita had deafness and hypothyroidism consistent with pendred syndrome, as well as a marked reduction of 123i uptake on perchlorate test. The full text of this article is available in pdf format. Pendred syndrome is a genetic disorder that causes early hearing loss in children. Pendrin is responsible for transporting negatively charged particles, into and out of cells. The amount of hearing loss varies among affected people.
Children of a person with pendred syndrome have a chance to have the condition if the other parent is a carrier. It has become apparent that mutations in this gene are not only associated with pds, but they form the molecular basis of nonsyndromic autosomal recessive deafness dfnb4 omim 600791 and nonsyndromic familial enlarged vestibular aqueduct omim 603545. Genetic counseling should be provided to affected families. Apr 10, 2020 pendred syndrome is caused by a mutation in the slc26a4 gene, which causes a defect in the organification of iodine ie, incorporation into thyroid hormone, congenital sensorineural hearing loss. The loss of hearing often happens suddenly, although some individuals will later. If a goiter develops in a person with pendred syndrome, it usually forms between late childhood and. Pdf an interesting case of pendred syndrome researchgate. The syndrome is named after vaughan pendred, the physician who first described individuals with the disorder.
It also can affect the thyroid gland and sometimes may affect a persons balance. Ear disorders what is pendreds syndrome congenital. The gene responsible for pendred syndrome pds, an autosomal recessive disease characterized by goiter and congenital sensorineural deafness, has recently been identified. Pendred syndrome is a form of syndromic deafness, which means that there is an additional medical issue in some other area of the body above and beyond the hearing loss. Epidemiology it is considered the most common form of syndromic hearing loss and accounts for upwar. A second characteristic of pendred syndrome is an enlarged vestibular aqueduct see igure. They also can help people prepare for increased hearing loss and other possible longterm consequences of the syndrome. Expression of pendrin and the pendred syndrome pds gene in.
Pendred syndrome was first described in 1896 by vaughen pendred. Mutations in the slc26a4 gene have been associated with two autosomal recessive disorders, pendred syndrome and dfnb4 nonsyndromic hearing loss. The authors raised the possibility that pendred syndrome maps to 8q24qter. For a general phenotypic description and a discussion of genetic heterogeneity of thyroid. Pendred syndrome is a condition usually characterized by sensorineural hearing loss in both ears bilateral and euthyroid goiter enlargement of the thyroid gland with normal thyroid gland function. Other names known as deafness with goiter and goiterdeafness syndrome, pendred syndrome is an inherited condition that affects the bodys ability to make a protein called pendrin. Pendred syndrome is an autosomal recessively inherited disorder characterized by a euthyroid goiter associated with sensorineural hearing loss. If a goiter develops in a person with pendred syndrome. Pendred syndrome is a condition usually characterized by sensorineural. Background we have sought to establish the prevalence of goitre within a pendred syndrome ps cohort and to document the course of thyroid disease in this patient group. Pendred syndrome an autosomal recessive mim 274600 condition associated with developmental defects of the cochlea, sensorineural hearing loss and diffuse thyroid enlargement. Nov 24, 2014 pendred syndrome is a condition usually characterized by sensorineural hearing loss in both ears bilateral and euthyroid goiter enlargement of the thyroid gland with normal thyroid gland function. Pendred syndrome symptoms, causes, diagnosis, prognosis.
Pendred syndrome also can affect the vestibular system, which controls balance. In one third of such families, only one variant is found 16 of all individuals with a pendred syndrome dfnb4 phenotype campbell et al 2001, park et al 2003. A mutation in the slc26a4 solute carrier family 26 number 4 gene, which encodes the anion transporter protein pendrin, is associated with pendred syndrome. Pendred syndrome is an inherited disorder leading to bilateral sensorineural hearing loss. Although the textbook view of the pendred syndrome is that of an autosomal recessive condition characterised by deafness and goitre, it is increasingly clear that not all patients present this classical clinical description. The physical changes in the inner ear occur in 85% of the cases of pendred syndrome. Pendred syndrome, a genetic disorder that causes hearing loss. Patients inheriting this autosomalrecessive disorder have variable degrees of deafness at birth and typically develop goiter in the second decade. As part of a genetic study of ps we have assessed 57 subjects by perchlorate discharge test and in 52 m 21, f 31, age range 954 years a discharge of radioiodide of 10% was observed. Not everyone with pendred syndrome, however, has an abnormal cochlea. Children who are born with pendred syndrome may begin to lose their hearing. This condition is characterized by abnormal ps gene in the long arm of chromosome 7. Jun 17, 2007 pendred syndrome is a genetic disorder that causes early hearing loss in children. History in 1896 vaughan pendred first described pendred syndrome as a combination of congenital deafness and goiter.
The vestibular aqueduct is a bony canal that runs from the vestibule a part of the inner ear between the cochlea and the. This ps gene is responsible for secretion of a protein called pendrin. Pendred syndrome description, causes and risk factors. Pendred syndrome is hereditary and the hearing loss is often evident at birth. Digenic inheritance of mutations in epha2 and slc26a4 in. Pds follows an autosomal recessive pattern of inheritance. Carriers typically do not have any signs or symptoms. Laboratory tests revealed a free thyroxine level of 9. Pendred syndrome definition of pendred syndrome by medical. Pendred syndrome is an autosomalrecessive disorder characterized by congenital sensorineural hearing loss combined with goiter. Pendred syndrome, pendrin, slc26a4, deafness, goiter, thyroid hormone.
Pendred syndrome is a result of a defect in the production of the thyroid hormone, which controls the metabolism and helps regulate body growth. Goiterdeafness syndrome, thyroid hormone organification defect iib. Here are links to possibly useful sources of information about pendred syndrome. The syndrome is named after vaughan pendred, the physician who first described people with the disorder. A goiter is an enlargement of the thyroid gland, which is a butterflyshaped organ at the base of the neck that produces hormones. Pendred syndrome is a genetic disorder that causes early hearing. In some cases, however, the syndrome does not develop until early childhood. In many cases, significant hearing loss is present at birth. Pendred syndrome is a genetic condition which is associated to having a hearing loss presbycusis and a thyroid condition goiter which is common to children. Cureus hoffmanns syndrome secondary to pendred syndrome. Enable javascript to view the expandcollapse boxes. Balance problems caused by altered vestibular function. Pendred syndrome medigoo health medical tests and free. While there is no treatment for pendred syndrome and the hearing loss that follows, some of the symptoms may be.
Mar 24, 2015 pendred syndrome is an autosomal recessive disorder characterized by congenital sensorineural deafness, goitre, and impaired iodide organification. Pendred syndrome is caused by a mutation in the slc26a4 gene, which causes a defect in the organification of iodine ie, incorporation into thyroid hormone, congenital sensorineural hearing loss. The degree of hearing loss changes very little over the years. Pendred syndrome is inherited in an autosomal recessive manner. Mar 12, 2020 enlarged vestibular aqueduct eva is one of the most commonly identified inner ear malformations in hearing loss patients including pendred syndrome. Children who are born with pendred syndrome may begin to lose their hearing at birth or by the time they are three years old. Clinical and molecular characteristics of pendred syndrome em. The pds gene is located on chromosome 7q31 and encodes a 5kb transcript that is mainly expressed in the thyroid gland 2, 3. Prevalence, age of onset, and natural history of thyroid. There is no specific treatment, other than supportive measures for the hearing loss and thyroid hormone supplementation in case of hypothyroidism. Pdf on jun 4, 2010, ali saneimoghaddam mrcs research fellow and others published an interesting case of pendred syndrome find, read and cite all the research you need on researchgate.
Pendred syndrome is a genetic disorder leading to congenital bilateral both sides sensorineural hearing loss and goitre with euthyroid or mild hypothyroidism decreased thyroid gland function. It also can affect the thyroid gland and sometimes creates problems with balance. Pendred syndrome genetic and rare diseases information. Pendred syndrome deafness with goiter is the most common syndromic form of deafness, accounting for up to 7. Inner ear changes and enlargement of the thyroid gland. It should be noted that the structural gene for thyroglobulin is in this segment. There is evidence that pendred syndrome may also rarely be caused by digenic inheritance of a heterozygous mutation in the slc26a4 gene and a heterozygous. Pendred syndrome, the most common syndromal form of deafness, is an autosomal recessive disorder associated with developmental abnormalities of the cochlea, sensorineural hearing loss, and diffuse thyroid enlargement goiter everett et al. The children of a person with pendred syndrome will definitely be carriers of the condition. However, formatting rules can vary widely between applications and fields of interest or study.
Pendred syndrome is a rare genetic disorder characterised by severe hearing impairment. Pendred syndrome also affects other parts fo the body for example, the thyroid gland. Malformations of the inner ear, specifically, enlargement of the vestibular aqueduct, are common in the pendred syndrome. Pendred syndrome is an autosomal recessive disorder characterized by bilateral sensorineural hearing impairment, goiter, and impaired iodide organification. Generally, the hearing loss is affected in early childhood. The syndrome is named after vaughan pendred, the physician who first described indivi.
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