Cureus hoffmanns syndrome secondary to pendred syndrome. Pendred syndrome occurs in an estimated onethird of all cases of eva and is an autosomalrecessive genetic disorder, meaning each parent must be a genetic carrier. 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 result of a defect in the production of the thyroid hormone, which controls the metabolism and helps regulate body growth. Pds follows an autosomal recessive pattern of inheritance. 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. Pendred syndrome is a genetic disorder that causes early hearing loss in children. Children who are born with pendred syndrome may begin to lose their hearing. Pendred syndrome is an autosomal recessively inherited disorder characterized by a euthyroid goiter associated with sensorineural hearing loss.
Pendred syndrome is a genetic pathological condition which is caused by mutation in gene slc26a4 in chromosome 7. Prevalence, age of onset, and natural history of thyroid. The mondini dysplasia can occur in cases of pendred syndrome and branchiootorenal syndrome. The mondini dysplasia can occur in cases of pendred syndrome and branchiootorenal syndrome and in other syndromes, but can displazia in nonsyndromic deafness. Pendred syndrome is sometimes characterized by an enlarged thyroid. Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called a goiter. Pendred syndrome, a combination of sensorineural deafness, impaired organification of iodide in the thyroid and goitre, results from biallelic defects in. Both parents must be carriers of a pathogenic variant in the gene in order to be at risk to have an affected child. Pdf on jun 4, 2010, ali saneimoghaddam mrcs research fellow and others published an interesting case of pendred syndrome find, read and cite all.
Pedigree of the family with pendred syndrome caused by a 1197delt in the slc26a4 gene. It also can affect the thyroid gland and sometimes may affect a persons balance. The full text of this article is available in pdf format. A person with one copy of the defective slc26a4 gene is a pendred syndrome.
Clinical and molecular characteristics of pendred syndrome em. Pendred syndrome is an autosomalrecessive disorder characterized by congenital sensorineural hearing loss combined with goiter. The pendred syndrome specific ipsc line can be used to generate a diseasespecific differentiated tissue in vitro for genetic modification and drug screening. Get a printable copy pdf file of the complete article 1. The thyroid is a small, butterflyshaped gland in the front of the neck, just above the. Pendred syndrome can make the thyroid gland grow larger. This type of inheritance requires the presence of two copies of a pathogenic variant in the gene for a person to have. Eva can be associated with branchiootorenal syndrome.
If a goiter develops in a person with pendred syndrome. Coyle b, coffey r, armour ja, gausden e, hochberg z, grossman a, britton k, pembrey m, reardon w, trembath r. This condition is characterized by enlargement of the thyroid gland called. Pendrin, encoded by the pendred syndrome gene, resides in. It also can affect the thyroid gland and sometimes creates problems with balance. In many cases, significant hearing loss is present at birth. The amount of hearing loss varies among affected people. Pendred syndrome is a genetic condition that is characterized by hearing loss and an enlarged thyroid, called goiter. Pendred syndrome is an autosomal recessive disorder that is present when a child receives two copies of a defective slc26a4 gene, one from each parent. There is no specific treatment, other than supportive measures for the hearing loss and thyroid hormone supplementation in case of hypothyroidism. Pendred syndrome in the families of children who have the disorder. If a goiter develops in a person with pendred syndrome, it usually forms between late childhood and early adulthood. Pendred syndrome consists of sensorineural deafness and goiter caused by. Not everyone with pendred syndrome, however, has an abnormal cochlea.
Pendred syndrome is characterized by congenital sensorineural hearing loss, temporal bone anomalies, and the development of euthyroid goiter in late. Lifethreatening metabolic alkalosis in pendred syndrome. Pendred syndrome and dfnb4 autosomal recessive deafness slc26a4 gene sequencing pendred syndrome omim 274600 and dfnb4 omim 600791 are autosomal recessive disorders. Pendred syndrome is a condition usually characterized by. Pendred syndrome and dfnb4 hearing loss slc26a4related pendred syndrome and dfnb4 are inherited conditions characterized by deafness and structural problems with the inner ear. Google scholarcoyle b, coffey r, armour ja, gausden e, hochberg z, grossman a, britton k, pembrey m, reardon w, trembath r.
Full text full text is available as a scanned copy of the original print version. Pendred syndrome is caused by mutations in a putative. Horizon conditions list condition gene autosomal recessive xlinked screening recommendations panel availability acog acmg victor center h 4 h 14 h 27 h. Pendred syndrome pds is an autosomal recessive disorder clinically characterized by sensorineural hearing loss and goiter. Hearing loss associated with pendred syndrome is usually progressive. First described by pendred, in 1896, in two deaf sisters with goiter. Expression of pendrin and the pendred syndrome pds gene. Pendred syndrome is an autosomal recessive disorder defined by sensorineural deafness, goiter and. Pdf an interesting case of pendred syndrome researchgate. This disorder may account for up to 10% of cases of. To present a clinical case of pendred syndrome, a rare pathology in children that includes congenital deafness and goiter.
Carriers typically do not have any signs or symptoms. Hearing loss in this syndrome is usually congenital i. Pendred syndrome ps is the most common cause of syndromic deafness. 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. The coding region of the pds gene exons 221, including. Genetic counseling should be provided to affected families. Intrafamilial variability of the deafness and goiter phenotype in. The children of a person with pendred syndrome will definitely be carriers of the condition. The syndrome is named after vaughan pendred, the physician who first described people with the disorder.
Pendrin is an anion transporter encoded by the pds pds gene. In humans, mutations in pds cause the genetic disorder pendred syndrome, which is associated with. Identifying and describing the key imaging features in pendred syndrome. Pendred syndrome is inherited in an autosomal recessive manner. Slc26a4 mutations are identified in 80% to 90% of familial cases of pendred syndrome, and in about. A second characteristic of pendred syndrome is an enlarged vestibular aqueduct see igure.
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. This article deals with details of pendred syndrome. The vestibular aqueduct is a bony canal that runs from the vestibule a part of the inner ear between the cochlea and the. 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. Here are links to possibly useful sources of information about pendred syndrome. Pendred syndrome uncountable a genetic disorder leading to congenital bilateral sensorineural hearing loss and goitre with occasional hypothyroidism. Researchers have identified more than 150 mutations in the slc26a4 gene in people with pendred syndrome. Pendred syndrome in a large consanguineous brazilian.
Links to pubmed are also available for selected references. 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. Pendred syndrome occurs in an estimated onethird of people who have eva2 and hearing loss. Pendred syndrome is the most common form of syndromic deafness, accounting for approximately 510% of hereditary hearing loss. The gene responsible for pendred syndrome pds, an autosomal recessive disease characterized by goiter and congenital sensorineural deafness, has recently been. Pendred syndrome, the most common syndromal form of deafness, is an autosomal recessive disorder associated with developmental abnormalities of the cochlea, sensorineural hearing. Pendred syndrome deafness with goiter is the most common syndromic form of deafness, accounting for up to 7. Pendred syndrome genetic and rare diseases information. Hoffmanns syndrome hs is a rare manifestation of hypothyroidism myopathy that presents with weakness, stiffness, and eventually pseudohypertrophy of muscles, especially calf. Named after vaughan pendred 18691946, english doctor who first described the condition in 1896. Pendred syndrome is a recessively inherited disorder with the hallmark features of congenital deafness and thyroid goitre.
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