Pendred syndrome

An autosomal recessive disorder associated with developmental abnormalities of the COCHLEA, sensorineural hearing loss, and diffuse thyroid enlargement (goiter). Mutations in the SLC26A4 gene have been identified. OMIM: 274600

Also Known As:

Autosomal Recessive Sensorineural Hearing Impairment and Goiter; Deafness with goiter; Goiter-deafness syndrome; Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2B; Pendred's Syndrome; Thyroid Dyshormonogenesis 2B; Thyroid Hormonogenesis, Genetic Defect In, 2B

Networked: 177 relevant articles (5 outcomes, 16 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Autosomal Recessive 4 Deafness
2.	Deafness (Deaf Mutism)
3.	Goiter
4.	Congenital Hypothyroidism (Cretinism)
5.	Thyrotoxicosis

Experts

1.	Kopp, Peter: 8 articles (01/2017 - 03/2004)
2.	Wangemann, Philine: 7 articles (05/2013 - 08/2004)
3.	Green, Eric D: 7 articles (05/2007 - 02/2002)
4.	Dossena, Silvia: 6 articles (01/2013 - 01/2006)
5.	Paulmichl, Markus: 6 articles (01/2013 - 01/2006)
6.	Kopp, P: 6 articles (04/2011 - 01/2000)
7.	Fugazzola, Laura: 5 articles (07/2011 - 01/2006)
8.	Royaux, Ines E: 5 articles (08/2004 - 02/2002)
9.	Griffith, Andrew J: 4 articles (04/2022 - 01/2011)
10.	Fujioka, Masato: 4 articles (05/2020 - 12/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Pendred syndrome:

1.	IodidesIBA 01/01/1994 - "It has been suggested that thyroperoxidase (TPO) in patients with Pendred's syndrome might be defective for coupling but could be partially effective for iodide organification. " 12/01/2022 - "Histopathological Features of Pendred Syndrome Thyroids Align with Differences in the Expression of Thyroid-Specific Markers, Apical Iodide Transporters, and Ciliogenesis Process." 06/01/2013 - "The thyroid glands of affected individuals cannot organify iodide efficiently due to a defective gene in chromosome 7. Here we report a case of Pendred syndrome with retrosternal goitre. " 09/01/2011 - "These experimental data, together with those coming from a review of familial Pendred cases leaving in regions either with low or sufficient iodide supply, support the idea that the expression of thyroid phenotype in Pendred syndrome is more powerfully influenced by individual factors than by dietary iodide." 01/01/2011 - "However, biochemical, clinical and histological data on the thyroid of a patient with Pendred syndrome do not suggest an essential role in iodide transport, which is corroborated by the lack of a thyroid phenotype in pendrin knockout mice. "
2.	IodineIBA 09/01/2017 - "Current study was aimed to screen the SLC26A4 gene in 127 nonautoimmune and noncongenital hypothyroid patients, who were under optimal iodine nutrition and devoid of any characteristics of Pendred syndrome from eastern part of Indian population. " 03/01/2000 - "Goitre was found only in patients with Pendred's syndrome and was absent in all other individuals, albeit residing in an iodine-deficient area. " 01/01/2000 - "Recently, the molecular mechanisms of two forms of hormonogenesis defects (iodine transport defects and Pendred syndrome) were elucidated." 04/01/1996 - "An in vivo defect in thyroid iodine organification in Pendred syndrome patients has been reported. " 04/01/1996 - "Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification."
3.	perchlorateIBA 07/01/1997 - "The perchlorate discharge test, the gold-standard investigation for Pendred syndrome, is non-specific, and in the absence of alternative means of confirming the diagnosis, its sensitivity is unknown. " 10/01/2019 - "Therefore, to determine whether the variant was specifically associated with Pendred Syndrome (PDS) or DFNB4, biochemical analyses, PTA, thyroid scans by Tc99m, perchlorate discharge test and high-resolution CT scan of the temporal bone were carried out on the affected family members. " 01/01/2013 - "A possible association with Pendred syndrome needs to be confirmed by genetic investigations with search for mutations in the SLC26A4 gene and further clinical tests, such as Perchlorate test for surveillance of thyroid function." 07/01/2005 - "The clinical diagnosis of Pendred's syndrome was supported by a positive perchlorate discharge test in the three afflicted siblings. " 10/01/2002 - "Perchlorate discharge tests were positive in both infants leading to a diagnosis of Pendred syndrome. "
4.	Sirolimus (Rapamycin)FDA Link 06/01/2019 - "We found that inner ear cells derived from Pendred syndrome patients are more vulnerable than those from healthy individuals during long-term culturing; however, this susceptibility was relieved via treatment with low-dose rapamycin. " 05/01/2020 - "A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4." 06/01/2019 - "We successfully evaluated the rational minimum concentration of rapamycin for treatment of Pendred syndrome. " 06/01/2019 - "Estimating the concentration of therapeutic range using disease-specific iPS cells: Low-dose rapamycin therapy for Pendred syndrome." 06/01/2019 - "Our results suggest that low-dose rapamycin not only decreases acute symptoms but may prevent progression of hearing loss in Pendred syndrome patients."
5.	potassium perchlorate FDA Link 12/01/1979 - "Pendred's syndrome was excluded by means of a potassium perchlorate test. " 05/01/1998 - "The diagnosis of Pendred syndrome was confirmed by the positive results of a potassium perchlorate test, indicating defective organic binding of iodine in the thyroid gland. "
6.	Proteins (Proteins, Gene)FDA Link 09/01/2007 - "High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional studies of the mutated SLC26A4 protein." 09/01/2003 - "Immunolocalization studies of mouse cochlea and vestibular end-organ were performed to study the expression pattern of pendrin, the protein encoded by the Pendred syndrome gene (PDS), in the inner ear. " 01/01/2017 - "Mutations in SLC26A4 (MIM: 605646), encoding the protein pendrin can cause both Pendred syndrome and autosomal recessive, nonsyndromic HI locus 4 type sensorineural HI (MIM: 600791). " 01/01/2016 - "These results indicate that Hsc70 and DNAJC14 play central roles in ER stress-associated unconventional protein secretion and are potential therapeutic targets for diseases such as Pendred syndrome, which arise from transport defects of misfolded proteins." 10/01/2006 - "Pendred syndrome results from various mutations in the PDS/SLC26A4 gene that cause production of an abnormal pendrin protein. "
7.	AnionsIBA 12/01/2010 - "Therefore, in this study, we focused on the function of ten missense pendrin mutations (p.P123S (Pendred syndrome), p.M147V (NSEVA), p.K369E (NSEVA), p.A372V (Pendred syndrome/NSEVA), p.N392Y (Pendred syndrome), p.C565Y (NSEVA), p.S657N (NSEVA), p.S666F (NSEVA), p.T721M (NSEVA) and p.H723R (Pendred syndrome/NSEVA)) reported in Japanese patients, and analyzed their cellular localization and anion exchanger activity using HEK293 cells transfected with each mutant gene. " 11/01/2023 - "We observed that pendrin corrector (PC2-1) increased the surface expression and anion exchange activity of p.H723R pendrin (H723R-PDS), the most prevalent genetic variant that causes Pendred syndrome and DFNB4. " 11/01/2023 - "Novel small molecule-mediated restoration of the surface expression and anion exchange activity of mutated pendrin causing Pendred syndrome and DFNB4." 01/01/2017 - "Pendred syndrome is caused by biallelic mutations in the SLC26A4/PDS gene, which encodes the multifunctional anion exchanger pendrin. " 06/30/2010 - "Pendred syndrome is caused by biallelic mutations in the SLC26A4 gene, which encodes pendrin, a multifunctional anion exchanger. "
8.	Thyroid HormonesIBA 06/01/2009 - "Pendred syndrome (PS) and resistance to thyroid hormone (RTH). " 01/01/2000 - "Pendred's syndrome and genetic defects in thyroid hormone synthesis." 02/01/1969 - "[Pendred's syndrome: a clinical and biochemical study of abnormal thyroid hormone synthesis associated with congenital deaf-mutism]." 09/01/1979 - "Patients with Pendred's syndrome who had goitre and congenital nerve deafness were mostly euthyroid with normal circulating thyroid hormone levels. " 06/01/2009 - "Genetic causes of goiter and deafness: Pendred syndrome in a girl and cooccurrence of Pendred syndrome and resistance to thyroid hormone in her sister."
9.	sodium-iodide symporter (sodium iodide symporter)IBA 09/01/2001 - "Two genes that participate in these transports and the corresponding proteins, namely sodium iodide symporter (NIS) and pendrin, the product of the Pendred syndrome gene, have recently been characterized. " 03/01/2001 - "The expression of two recently identified iodide transporters, namely the sodium/iodide symporter (NIS) and pendrin, the product of the gene responsible for the Pendred syndrome (PDS), was studied in a series of various extra-thyroidal human tissues, and especially in those known to concentrate iodide. " 11/01/2000 - "The expression of two recently identified iodide transporters, namely the sodium/iodide symporter (NIS) and pendrin, the product of the gene responsible for the Pendred syndrome (PDS), was studied using real-time kinetic quantitative PCR and immunohistochemistry 1) in placental tissues collected at different gestational ages and 2) in primary cultures of villous cytotrophoblast cells (VCT) that differentiate and fuse over 2-3 days in vitro to form villous syncytiotrophoblast (VSCT) cells. " 07/01/2002 - "We show here, using COS-7 cells and Chinese hamster ovary cells transfected with expression vectors encoding sodium iodide symporter or human Pendred syndrome gene cDNA and by comparison with studies using rat thyroid FRTL-5 cells, that pendrin is an iodide-specific transporter in mammalian cells and is responsible for iodide efflux in the thyroid." 05/01/2006 - "In the present report, we examined the effect of Tg on the action of TSH/cAMP and iodine with special focus on the regulation of basolateral and apical iodide transporters; the sodium/iodide symporter (NIS) and the pendred syndrome gene (PDS) by Tg. "
10.	Thyroxine (Levothyroxine)FDA LinkGeneric 01/01/1968 - "[Clinical and chromosomal studies in a congenital hypothyroidism caused by thyroxin synthesis disorders and middle ear hearing disorders (Pendred- or goiter-deafness syndrome)]." 05/01/2007 - "Pendred syndrome is a rare, inherited, autosomal recessive disorder with an iodine organification defect of thyroxin produced by the thyroid gland. " 07/01/2017 - "AITD = autoimmune thyroid disease; BPPV = benign paroxysmal positional vertigo; EH = endolymphatic hydrops; HT = Hashimoto thyroiditis; L-T4 = L-thyroxine; MD = Ménière disease; PS = Pendred syndrome; Tg = thyroglobulin; TPO = thyroid peroxidase; TSH = thyroid-stimulating hormone."

Therapies and Procedures

1.	Cochlear Implants (Cochlear Implant) 08/01/2011 - "The objective of this study was to examine the anatomical, audiological, and surgical factors that can affect the hearing outcome in Pendred syndrome cochlear implant recipients. " 01/01/2021 - "No statistical difference was found in language acquisition and production in implantees with Pendred syndrome when compared to non-syndromic patients with cochlear implants. " 01/01/2021 - "Speech Perception and Production in Cochlear Implant Recipients with Pendred Syndrome." 01/01/2013 - "CT-scans of cochlear implant patients with characteristics of Pendred syndrome." 09/01/2011 - "Providing cochlear implants to patients with Pendred syndrome demands extensive knowledge of this condition, in order to avoid potential morbidity."
2.	Cochlear Implantation 11/01/2021 - "A retrospective case series of nine pediatric patients with Pendred syndrome undergoing cochlear implantation at a tertiary academic medical center from 2003 to 2017. " 11/01/2021 - "To examine the outcomes of cochlear implantation in children with Pendred Syndrome. " 11/01/2021 - "Cochlear implantation in patients with Pendred syndrome." 12/01/2020 - "Establish outcomes following cochlear implantation (CI) in patients with Pendred syndrome. " 12/01/2020 - "Outcomes of Cochlear Implantation in Patients with Pendred syndrome: A Systematic Review and Narrative Synthesis."
3.	Thyroidectomy 12/01/2008 - "Thyroidectomy in a patient with multinodular dyshormonogenetic goitre--a case of Pendred syndrome confirmed by mutations in the PDS/SLC26A4 gene." 04/15/1991 - "A 66-year-old woman with Pendred's syndrome underwent a partial thyroidectomy when she was 17 years old. " 05/01/1981 - "Pendred's syndrome - consequences of thyroidectomy." 05/01/1981 - "A 73-year-old-man with Pendred's syndrome is described who presented with hypoparathyroidism and tracheal compression 31 years after thyroidectomy."
4.	Therapeutics 09/01/2011 - "The majority of Pendred syndrome patients are referred to cochlear implant programmes for hearing assessment and therapy. " 06/01/2019 - "Estimating the concentration of therapeutic range using disease-specific iPS cells: Low-dose rapamycin therapy for Pendred syndrome." 06/01/2008 - "In subjects with Pendred syndrome thiazide therapy seems to provoke more severe Cl(-) and extracellular volume depletion. " 06/01/2008 - "Profound hypokalemia and hypochloremic metabolic alkalosis during thiazide therapy in a child with Pendred syndrome." 06/01/2008 - "We report the case of a child with Pendred syndrome and intercurrent endolymphatic hydrops, who developed profound hypokalemia and severe hypochloremic metabolic alkalosis (potassium 1.7, chloride 70, sodium 129, HCO3 43.8, base excess +17.8 mmol/l, pH 7.52) following thiazide therapy. "