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Pendred syndrome(PDS)

MedGen UID:
82890
Concept ID:
C0271829
Disease or Syndrome
Synonyms: Deafness with goiter; Goiter-deafness syndrome; HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B; PDS; Pendred's syndrome; SLC26A4-Related Pendred Syndrome; THYROID DYSHORMONOGENESIS 2B; THYROID HORMONOGENESIS, GENETIC DEFECT IN, 2B
SNOMED CT: Pendred's syndrome (70348004); Hypothyroidism with sensorineural deafness (70348004); Thyroid hormone organification defect II B (70348004); Goiter-deafness syndrome (70348004); Genetic defect in thyroid hormonogenesis II B (70348004); GDTH IIB (70348004); Pendred syndrome (70348004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Genes (locations): FOXI1 (5q35.1); KCNJ10 (1q23.2); SLC26A4 (7q22.3)
 
Monarch Initiative: MONDO:0010134
OMIM®: 274600
Orphanet: ORPHA705

Definition

Pendred syndrome/nonsyndromic enlarged vestibular aqueduct (PDS/NSEVA) comprises a phenotypic spectrum of sensorineural hearing loss (SNHL) that is usually congenital and often severe to profound (although mild-to-moderate progressive hearing impairment also occurs), vestibular dysfunction, and temporal bone abnormalities (bilateral enlarged vestibular aqueduct with or without cochlear hypoplasia). PDS also includes development of euthyroid goiter in late childhood to early adulthood whereas NSEVA does not. [from GeneReviews]

Additional descriptions

From OMIM
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., 1997). For a general phenotypic description and a discussion of genetic heterogeneity of thyroid dyshormonogenesis, see TDH1 (274400).  http://www.omim.org/entry/274600
From MedlinePlus Genetics
Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called a goiter. A goiter is an enlargement of the thyroid gland, which is a butterfly-shaped organ at the base of the neck that produces hormones. If a goiter develops in a person with Pendred syndrome, it usually forms between late childhood and early adulthood. In most cases, this enlargement does not cause the thyroid to malfunction.\n\nIn most people with Pendred syndrome, severe to profound hearing loss caused by changes in the inner ear (sensorineural hearing loss) is evident at birth. Less commonly, hearing loss does not develop until later in infancy or early childhood. Some affected individuals also have problems with balance caused by dysfunction of the vestibular system, which is the part of the inner ear that helps maintain the body's balance and orientation.\n\nAn inner ear abnormality called an enlarged vestibular aqueduct (EVA) is a characteristic feature of Pendred syndrome. The vestibular aqueduct is a bony canal that connects the inner ear with the inside of the skull. Some affected individuals also have an abnormally shaped cochlea, which is a snail-shaped structure in the inner ear that helps process sound. The combination of an enlarged vestibular aqueduct and an abnormally shaped cochlea is known as Mondini malformation.\n\nPendred syndrome shares features with other hearing loss and thyroid conditions, and it is unclear whether they are best considered as separate disorders or as a spectrum of related signs and symptoms. These conditions include a form of nonsyndromic hearing loss (hearing loss that does not affect other parts of the body) called DFNB4, and, in a small number of people, a form of congenital hypothyroidism resulting from an abnormally small thyroid gland (thyroid hypoplasia). All of these conditions are caused by mutations in the same gene.  https://medlineplus.gov/genetics/condition/pendred-syndrome

Clinical features

From HPO
Thyroid carcinoma
MedGen UID:
107811
Concept ID:
C0549473
Neoplastic Process
The presence of a carcinoma of the thyroid gland.
Vestibular dysfunction
MedGen UID:
334848
Concept ID:
C1843865
Finding
An abnormality of the functioning of the vestibular apparatus.
Cochlear malformation
MedGen UID:
396278
Concept ID:
C1862050
Finding
The presence of a malformed cochlea.
Congenital sensorineural hearing impairment
MedGen UID:
356101
Concept ID:
C1865866
Disease or Syndrome
A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding
Goiter
MedGen UID:
42270
Concept ID:
C0018021
Disease or Syndrome
An enlargement of the thyroid gland.
Compensated hypothyroidism
MedGen UID:
473011
Concept ID:
C0271790
Disease or Syndrome
Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4).
Thyroid carcinoma
MedGen UID:
107811
Concept ID:
C0549473
Neoplastic Process
The presence of a carcinoma of the thyroid gland.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPendred syndrome
Follow this link to review classifications for Pendred syndrome in Orphanet.

Recent clinical studies

Etiology

Skrivan J, Jurovcik M, Aksenovova Z, Astl J, Pourova RK, Dytrych P, Sieger T
Balkan Med J 2021 Jul;38(4):244-248. doi: 10.5152/balkanmedj.2021.20182. PMID: 34274914
West NC, Ryberg AC, Cayé-Thomasen P
Otol Neurotol 2021 Oct 1;42(9):e1327-e1332. doi: 10.1097/MAO.0000000000003270. PMID: 34224544
Lindberg E, Moller C, Kere J, Wedenoja S, Anderzén-Carlsson A
BMC Med Genet 2020 Apr 15;21(1):79. doi: 10.1186/s12881-020-01023-z. PMID: 32295532Free PMC Article
Mey K, Percy-Smith L, Hallstrøm M, Sandvej M, Cayé-Thomasen P
Acta Otolaryngol 2020 Jan;140(1):46-50. Epub 2019 Nov 23 doi: 10.1080/00016489.2019.1689293. PMID: 31762351
Tong GX, Chang Q, Hamele-Bena D, Carew J, Hoffman RS, Nikiforova MN, Nikiforov YE
Endocr Pathol 2016 Mar;27(1):70-5. doi: 10.1007/s12022-015-9413-4. PMID: 26744121

Diagnosis

West NC, Ryberg AC, Cayé-Thomasen P
Otol Neurotol 2021 Oct 1;42(9):e1327-e1332. doi: 10.1097/MAO.0000000000003270. PMID: 34224544
Chouchen J, Mahfood M, Alobathani M, Eldin Mohamed WK, Tlili A
Int J Pediatr Otorhinolaryngol 2021 Jan;140:110467. Epub 2020 Nov 9 doi: 10.1016/j.ijporl.2020.110467. PMID: 33199029
Lindberg E, Moller C, Kere J, Wedenoja S, Anderzén-Carlsson A
BMC Med Genet 2020 Apr 15;21(1):79. doi: 10.1186/s12881-020-01023-z. PMID: 32295532Free PMC Article
Mey K, Percy-Smith L, Hallstrøm M, Sandvej M, Cayé-Thomasen P
Acta Otolaryngol 2020 Jan;140(1):46-50. Epub 2019 Nov 23 doi: 10.1080/00016489.2019.1689293. PMID: 31762351
Wémeau JL, Kopp P
Best Pract Res Clin Endocrinol Metab 2017 Mar;31(2):213-224. Epub 2017 May 10 doi: 10.1016/j.beem.2017.04.011. PMID: 28648509

Therapy

Fujioka M, Akiyama T, Hosoya M, Kikuchi K, Fujiki Y, Saito Y, Yoshihama K, Ozawa H, Tsukada K, Nishio SY, Usami SI, Matsunaga T, Hasegawa T, Sato Y, Ogawa K
Medicine (Baltimore) 2020 May;99(19):e19763. doi: 10.1097/MD.0000000000019763. PMID: 32384426Free PMC Article
Pourahmadiyan A, Alipour P, Fattahi N, Kasiri M, Rezaeian F, Taghipour-Sheshdeh A, Mohammadi-Asl J, Tabatabaiefar MA, Hashemzadeh Chaleshtori M
Int J Audiol 2019 Oct;58(10):628-634. Epub 2019 Jun 12 doi: 10.1080/14992027.2019.1619945. PMID: 31187663
Mikkelsen KS, Tranebjærg L, Mey K
Cochlear Implants Int 2019 Mar;20(2):100-103. Epub 2018 Nov 28 doi: 10.1080/14670100.2018.1550849. PMID: 30484383
Sanei-Moghaddam A, Wilson T, Kumar S, Gray R
J Laryngol Otol 2011 Sep;125(9):965-7. Epub 2011 Jul 12 doi: 10.1017/S0022215111001630. PMID: 21745434
Pela I, Bigozzi M, Bianchi B
Clin Nephrol 2008 Jun;69(6):450-3. doi: 10.5414/cnp69450. PMID: 18538122

Prognosis

Chow YP, Abdul Murad NA, Mohd Rani Z, Khoo JS, Chong PS, Wu LL, Jamal R
Orphanet J Rare Dis 2017 Feb 21;12(1):40. doi: 10.1186/s13023-017-0575-7. PMID: 28222800Free PMC Article
Kontorinis G, Lenarz T, Lesinski-Schiedat A, Neuburger J
Cochlear Implants Int 2011 Aug;12(3):157-63. doi: 10.1179/146701011X12950038111819. PMID: 21917203
Lofrano-Porto A, Barra GB, Nascimento PP, Costa PG, Garcia EC, Vaz RF, Batista AR, Freitas AC, Cherulli BL, Bahmad F Jr, Figueiredo LG, Neves FA, Casulari LA
Arq Bras Endocrinol Metabol 2008 Nov;52(8):1296-303. doi: 10.1590/s0004-27302008000800015. PMID: 19169484
Pera A, Dossena S, Rodighiero S, Gandía M, Bottà G, Meyer G, Moreno F, Nofziger C, Hernández-Chico C, Paulmichl M
Proc Natl Acad Sci U S A 2008 Nov 25;105(47):18608-13. Epub 2008 Nov 18 doi: 10.1073/pnas.0805831105. PMID: 19017801Free PMC Article
Colvin IB, Beale T, Harrop-Griffiths K
Laryngoscope 2006 Nov;116(11):2027-36. doi: 10.1097/01.mlg.0000240908.88759.fe. PMID: 17075407

Clinical prediction guides

Mey K, Percy-Smith L, Hallstrøm M, Sandvej M, Cayé-Thomasen P
Acta Otolaryngol 2020 Jan;140(1):46-50. Epub 2019 Nov 23 doi: 10.1080/00016489.2019.1689293. PMID: 31762351
Wen Z, Zhu H, Li Z, Zhang S, Zhang A, Zhang T, Fu X, Sun D, Zhang J, Gao J
Biochem Biophys Res Commun 2019 Jul 23;515(2):359-365. Epub 2019 May 30 doi: 10.1016/j.bbrc.2019.05.157. PMID: 31155292
Wémeau JL, Kopp P
Best Pract Res Clin Endocrinol Metab 2017 Mar;31(2):213-224. Epub 2017 May 10 doi: 10.1016/j.beem.2017.04.011. PMID: 28648509
van Nierop JW, Huinck WJ, Pennings RJ, Admiraal RJ, Mylanus EA, Kunst HP
Clin Otolaryngol 2016 Aug;41(4):386-94. Epub 2016 Feb 8 doi: 10.1111/coa.12532. PMID: 26331303
Mohseni M, Honarpour A, Mozafari R, Davarnia B, Najmabadi H, Kahrizi K
Int J Pediatr Otorhinolaryngol 2014 Nov;78(11):1828-32. Epub 2014 Sep 1 doi: 10.1016/j.ijporl.2014.08.035. PMID: 25239229

Recent systematic reviews

Biggs K, Lovett A, Metcalfe C, Muzaffar J, Monksfield P, Bance M
J Int Adv Otol 2020 Dec;16(3):432-442. doi: 10.5152/iao.2020.9039. PMID: 33136026Free PMC Article
Huang CJ, Jap TS
J Chin Med Assoc 2015 Mar;78(3):145-53. Epub 2014 Nov 11 doi: 10.1016/j.jcma.2014.09.010. PMID: 25455162
Noordman BJ, van Beeck Calkoen E, Witte B, Goverts T, Hensen E, Merkus P
Otol Neurotol 2015 Jan;36(1):4-11. doi: 10.1097/MAO.0000000000000659. PMID: 25406869

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