2016
DOI: 10.1136/bcr-2016-215271
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Delayed diagnosis of Pendred syndrome

Abstract: We describe a case of a delayed diagnosis of Pendred syndrome. The patient had a history of hearing loss from childhood and presented to the endocrine clinic when aged 32 with an enlarging goitre. The characteristic Mondini deformity was noted on auditory canal MRI scan. Genetic tests confirmed the diagnosis. Pendred syndrome is an autosomal recessive disorder, characterised by congenital sensorineural hearing loss, goitre and impaired iodide organification and can present at any age. We highlight to the gener… Show more

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Cited by 4 publications
(2 citation statements)
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“…PDS was first described in 2 members of a large family presenting with deafness and goiter by Pendred in 1896 [Wémeau and Kopp, 2017;Gettelfinger and Dahl, 2018]. EVA (Mondini deformity) demonstrated by auditory canal magnetic resonance imaging (MRI) can support the diagnosis [Smith et al, 2016]. PDS is caused by biallelic variants of SLC26A4.…”
Section: Introductionmentioning
confidence: 99%
“…PDS was first described in 2 members of a large family presenting with deafness and goiter by Pendred in 1896 [Wémeau and Kopp, 2017;Gettelfinger and Dahl, 2018]. EVA (Mondini deformity) demonstrated by auditory canal magnetic resonance imaging (MRI) can support the diagnosis [Smith et al, 2016]. PDS is caused by biallelic variants of SLC26A4.…”
Section: Introductionmentioning
confidence: 99%
“…It is caused by mutations in the Pendred Syndrome (PDS) gene (SLC26A4), encoding Pendrin (multifunctional anion transporter): a protein expressed in the inner, thyroid and kidney [2]. It is a common cause of congenital deafness with a percentage of 10% [3]. Thus, it is the most common cause of syndromic deafness and the risk of transmission from heterozygous parents is 25% [4].…”
Section: Introductionmentioning
confidence: 99%