Clinical and molecular characteristics of pendred syndrome. Pendred syndrome goitre and sensorineural hearing loss maps to chromosome 7 in the region containing the nonsyndromic deafness gene dfnb4. The incidence of pendred s syndrome is thought to be as high as 7. Patients inheriting this autosomalrecessive disorder have variable degrees of deafness at birth and typically develop goiter in the second decade. Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called a goiter. Eight of the patients had previously had a thyroid resection. 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.
A genetic disease characterized by congenital deafness, abnormality of the bony labyrinth in the inner ear, and goiter enlargement of the thyroid gland. Pendred syndrome is an autosomal recessive disorder characterized by profound deafness in childhood and goiter. The serum total thyroxine and serum total triiodothyronine concentrations were normal in 8, of whom 3. To present a clinical case of pendred syndrome, a rare pathology in children that includes congenital deafness and goiter. By some estimates, the disorder may account for upwards of 10% of. It codes for a transmembrane protein called pendrin, which is highly expressed at the apical surface of the. Nov 18, 2019 the mondini dysplasia can occur in cases of pendred syndrome and branchiootorenal syndrome and in other syndromes, but can displazia in nonsyndromic deafness.
The disease gene for pendred syndrome has been recently characterized and named pds. Differential diagnosis between pendred and pseudopendred. Zudem konnen fehlbildungen des innenohres auftreten. This type of inheritance requires the presence of two copies of a pathogenic variant in the gene for a person to have the genetic disease. This symptom usually appears several years after a hearing loss has been diagnosed. Both parents must be carriers of a pathogenic variant in the gene in. Pendred syndrome is an autosomal recessively inherited disorder characterized by a euthyroid goiter associated with sensorineural hearing loss. Pendred syndrome definition of pendred syndrome by medical. Longterm audiological feature in pendred syndrome caused.
Cureus hoffmanns syndrome secondary to pendred syndrome. Exactly a century later, the gene for pendred syndrome was discovered by coyle and sheffield and colleagues to be on chromosome 7q. 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. Pendred syndrome pendred syndrome is one of the most common syndromic forms of deafness. The children of a person with pendred syndrome will definitely be carriers of the condition. Pendred syndrome is thought to account for approximately 7. The syndrome is named after vaughan pendred, the physician who first described people with the disorder. Pendred syndrome is a genetic disorder that causes early hearing loss in children. Pdf an interesting case of pendred syndrome researchgate. The pds gene is located on chromosome 7q31 and encodes a 5kb transcript that is mainly expressed in the thyroid gland 2, 3. It is actually the most common syndromal form of deafness in childrenit is estimated that pendred syndrome accounts for 510% of hereditary deafness cases. In developed countries, older individuals mondiini exposed through secondary mechanisms. Obligatory features are profound deafness in childhood and defective organic binding of iodine in the thyroid gland.
The pendred syndrome phenotype includes bilateral sensorineural hearing loss, which is usually severe to profound at birth, temporal bone abnormalities, vestibular abnormalities, and thyroid dysfunction, which usually. Pdf on jun 4, 2010, ali saneimoghaddam mrcs research fellow and others published an interesting case of pendred syndrome find, read and cite all. Children who are born with pendred syndrome may begin to lose their hearing at birth or by the time they are three years old. This condition not only affects the auditory and gland functions but it also affects the balance due to the affected vestibulocochlear area. The pds gene product, pendrin, is a highly hydrophobic transmembrane protein. Clinical and molecular characteristics of pendred syndrome em. For a general phenotypic description and a discussion of genetic heterogeneity of thyroid. Pendred syndrome goitre and sensorineural hearing loss maps to chromosome 7 in the region containing the.
Ethics committee approved the study, and informed consent was obtained from every patient or from parents of patients under legal age. In the course of a clinical and molecular study of pendred syndrome, we identified enlargement of the vestibular aqueduct in 80% of individuals with that condition. Pendred syndrome is an autosomal recessive disorder characterized by congenital deafness and thyroid goiter. Nov 24, 2014 pendred syndrome is inherited in an autosomal recessive manner. 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. Pendred syndrome is the most common form of syndromic deafness, accounting for approximately 510% of hereditary hearing loss. Pendred syndrome is characterized by a congenital prebirth nonprogressive, severetoprofound sensorineural hearing loss which is frequently coupled with a late childhood or early adult onset of goiter enlargement of the thyroid gland. Carriers typically do not have any signs or symptoms. The syndrome is named after vaughan pendred, the physician who first described individuals with the disorder. Thyroid function in patients with pendreds syndrome. Pendred syndrome is inherited in an autosomal recessive manner. Aug 08, 2019 between and38 loci for autosomal dominant nonsyndromic deafness have been mapped and fe genes have been cloned. Progressive sensorineural hearing loss and widened vestibular aqueducts are characteristic features of pendreds syndrome, which provides the opportunity to diagnose pendreds syndrome. Pendred syndrome and dfnb4 autosomal recessive deafness.
There is no specific treatment, other than supportive measures for the hearing loss and thyroid hormone supplementation in case of hypothyroidism. The amount of hearing loss varies among affected people. The congenital nerve deafness is severe to profound and is not progressive does not get worse. Pendred syndrome an autosomal recessive mim 274600 condition associated with developmental defects of the cochlea, sensorineural hearing loss and diffuse thyroid enlargement. Expression of pendrin and the pendred syndrome pds gene in. Progressive sensorineural hearing loss and a widened. Affected individuals may develop a goiter, a large swelling at the base of the neck caused by thyroid enlargement. Pendred syndrome is an autosomal recessive inherited disorder. By some estimates, the disorder may account for upwards of. Pendred syndrome genetic and rare diseases information. Hearing loss in this syndrome is usually congenital i. Dec 01, 2014 pendred syndrome is inherited in an autosomal recessive manner.
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. Expression of pendrin and the pendred syndrome pds. We report a case of pendred syndrome in a 27yearold woman who had a diffuse goiter and progressive sensorineural hearing loss with fluctuation and a missense mutation his723arg in the pds gene identified in a homozygous state. The encoded protein, named pendrin, is closely related to numerous known proteins from a large taxonomic span, including plants, yeast, and bacteria. Pendred syndrome is an autosomal recessive disorder defined by sensorineural deafness, goiter and. For most autosomal recessive conditions, a person must have 2 changed mutated copies of the responsible gene in each cell in order to have the condition.
May 06, 2014 pendrin is important for the normal functions of the thyroid and inner ear, but the mutations of slc26a4 disrupted the ion transport which caused the signs and characteristics of pendred s syndrome. Children of a person with pendred syndrome have a chance to have the condition if the other parent is a carrier. Coyle b, coffey r, armour ja, gausden e, hochberg z, grossman a, britton k, pembrey m, reardon w, trembath r. For a general phenotypic description and a discussion of genetic heterogeneity of thyroid dyshormonogenesis, see tdh1. Although precise prevalence is unknown, pds may account for up to 7. Pendred syndrome is a common form of syndromic deafness hearing loss that occurs with signs and symptoms affecting other parts of the body. In other cases, hearing loss does not develop until later in infancy or. Pendred syndrome is caused by mutations in a putative. Pendred syndrome or pendred disease is a genetic disorder leading to congenital bilateral both sides sensorineural hearing loss and goitre with occasional hypothyroidism decreased thyroid gland function.
Pendred syndrome is a form of syndromic deafness, which means that there is an additional medical issue. Discharge test with 123i for the diagnosis of the pendred syndrome in children. Clinical description considerable phenotypic variability is found even within families. We recently identified the pendreds syndrome gene pds by use of a positional cloning strategy 12.
Numerous pendred s syndromeassociated mutations have now been identified 9, 10, 16. Las personas con tipo ii tienen sordera moderada a severa y equilibrio normal. Pendred syndrome is an inherited disorder leading to bilateral sensorineural hearing loss. It also can affect the thyroid gland and sometimes may affect a persons balance. Pendred syndrome in a large consanguineous brazilian. Between and38 loci for autosomal dominant nonsyndromic deafness have been mapped and fe genes have been cloned.
The gene responsible for pendred syndrome pds, an autosomal recessive disease characterized by goiter and congenital sensorineural deafness, has recently been identified. Malformations of the inner ear, specifically, enlargement of the vestibular aqueduct, are common in the pendred syndrome. Linkage of pendred s syndrome to chromosome 7q2231. Pendred syndrome symptoms, causes, diagnosis, prognosis. The incidence of pendreds syndrome is thought to be as high as 7. Thyroid function was studied in 17 unrelated patients with pendreds syndrome.
Pendred syndrome is a result of a defect in the production of the thyroid hormone, which controls the metabolism and helps regulate body growth. Pendred syndrome deafness with goiter is the most common syndromic form of deafness, accounting for up to 7. Pendred syndrome is a recessively inherited disorder with the hallmark features of congenital deafness and thyroid goitre. The abnormality of the labyrinth is evident on a ct scan of the temporal bone in the skull. Epidemiology it is considered the most common form of syndromic hearing loss and accounts for upwar. 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. Pendred syndrome pds is one of the most frequent forms of syndromic genetic deafness. Fourteen patients had been treated with lthyroxine, which was withdrawn during the investigation. Progressive sensorineural hearing loss and widened vestibular aqueducts are characteristic features of pendred s syndrome, which provides the opportunity to diagnose pendred s syndrome. It is named after doctor vaughan pendred, an english doctor, described the condition in an irish family in 1896.
Expression pattern of the mouse ortholog of the pendreds. Pendred syndrome ps is an autossomal recessive disorder characterized by sensorineural deafness, goiter and iodide organification defect. Preschool female 5 years and 4 months of age, whose mother refers disease of 3 months of evolution characterized by progressive increase in volume of the anterior neck, without redness, heat, or pain. Pendred syndrome pds is the hereditary association of congenital deafness deafness at the time of birth and goiter enlargement of the thyroid gland in the front of the neck due to a defect in the making of thyroid hormone. Twelve patients three females and nine males aged 747 years.
If a goiter develops in a person with pendred syndrome, it usually forms between late childhood and early adulthood. 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. To prospectively determine the structural anomalies of the inner ear by using thinsection computed tomography ct in an extended family with pendred syndrome. Pendred syndrome is a genetic condition that is characterized by hearing loss and an enlarged thyroid, called goiter. A goiter is an enlargement of the thyroid gland, which is a butterflyshaped organ at the base of the neck that produces hormones. The full text of this article is available in pdf format. The thyroid disease typically develops around puberty and is associated with a mild. Ear disorders what is pendreds syndrome congenital. Pendred syndrome is a genetic disorder leading to a congenital bilateral sensorineural hearing loss, with occasional goitre and hypothyroidism. As a result, pendred syndrome can also be characterised by goitre, an enlargement of the thyroid gland in the neck near the adams apple. It codes for a transmembrane protein called pendrin, which is. In many cases, significant hearing loss is present at birth.
1508 726 415 580 1319 728 1205 397 454 255 1392 1009 1377 861 48 412 1402 255 825 257 27 370 197 36 62 1160 162 1336 128 283 988 1337 915 1253 1190 1002 495 1281