Pendred syndrome

Description

Pendred syndrome: autosomal recessive genetic disorder (chromosome 7q31), characterized by congenital sensorineural deafness and goitre.

  • Most patients are euthyroid or mildly hypothyroid with a positive perchlorate discharge test and impaired iodide organification.
  • The sensorineural deafness is bilateral and typically associated with a malformation of the inner ear in which the normal cochlear spiral of 2.5 turns is replaced by a hypoplastic coil of 1.5 turns (Mondini deformity or cochlea)
  • Pendred syndrome has been historically recorded as accounting for 7.5-15% of all cases of congenital deafness, but modern reviews suggest <5%.

History

1896Pendred originally reported the syndrome as familial deafness and goitre. He described his observations in two sisters from an Irish family living in Durham.

The first goitre case is the first-born of the family- a spare woman now aged thirty-eight years. She is deaf and can only mumble indistinctly; little care has been taken to educate her and so she is imbecile. The goitre is a large multilobular hard tumour, the greater part on the right side of the neck ; from time to time she suffers from dyspnoeic attacks. (…)The second surviving girl is now aged twenty-eight years, and is the fifth of the family; she is a small, spare, intelligent woman, her expression being in marked contrast to her sister’s. She is not absolutely deaf and can mumble incoherently; her education has been attended to with so much success that she has been “in service.” The tumour is larger than in the other case, but is of the same character ; it has been growing for about fifteen years, and during the last year has caused both dyspnoea and dysphagia, which have become so urgent that I have sent her to-day to Newcastle Infirmary for operation.

Pendred. Lancet 1896

1927 – Brain, 30 years later, and without reference to Pendred reported four families with two or more children affected. [QJM 1927]

1956 – Deraemaeker outlined the autosomal recessive patterns of inheritance [Hum Genet 1956]

1965 – Fraser’s study established Pendred syndrome as an important and relatively common cause of inherited deafness, estimating a prevalence of 75 cases per million population. [Ann Hum Genet 1965]

1996Coyle and Sheffield, in two consecutive papers in Nature Genetics, demonstrated that the Pendred syndrome maps to chromosome 7q.


Associated Persons


References

  • Mondini C. Anatomica surdi nati sectio. 1791;7:419-431. [Mondini deformity]
  • Pendred V. Deaf mutism and goitre. Lancet 1896;148(3808):532. [Pendred syndrome]
  • Brain WR. Heredity in simple goitre. QJM 1927;20:303-319.
  • Deraemaeker R. Congenital deafness and goitre. Am J Hum Genet 1956;8:253–256. [PMC1716710]
  • Fraser GR. Association of congenital deafness with goitre (Pendred’s syndrome). A study of 207 families. Ann Hum Genet 1965;28:201-248. [PMID 14304636]
  • Coyle B et al. Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. Nat Genet 1996;12(4):421–423. [PMID 8630497]
  • Sheffield VC et al. Pendred syndrome maps to chromosome 7q21–34 and is caused by an intrinsic defect in thyroid iodine organification. Nat Genet. 1996;12(4):424-426. [PMID 8630498]
  • Reardon W, Trembath RC. Pendred syndrome. J Med Genet. 1996 Dec;33(12):1037-40. [PMC1050818]
  • Reardon W et al. Pendred syndrome – 100 years of underascertainment? QJM. 1997;90(7):443-447. [PMID 9302427]
  • Kopp P. Pendred’s syndrome: identification of the genetic defect a century after its recognition. Thyroid. 1999;9(1):65-69. [PMID 10037079]
  • Stinckens C, Huygenb PLM, Van Camp G, Cremers CWRJ. Pendred Syndrome Redefined. Genetic Hearing Impairment. Adv Otorhinolaryngol. Karger. 2002;61:131–141
  • Bigozzi M, Melchionda S, Casano R, Palladino T, Gitti G. Pendred syndrome: study of three families. Acta Otorhinolaryngol Ital. 2005;25(4):233-239. [PMC2639885]
  • Pearce JMS. Pendred’s Syndrome. Eur Neurol 2007;58:189–190 [PMID 17622729]

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Dr Callum MacLean MBChB. | LinkedIn |

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