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Pendred syndrome

Endocrine, Nutritional and Metabolic Diseases

Pendred syndrome is a genetic disorder that combines congenital bilateral sensorineural hearing loss with goitre, an enlargement of the thyroid gland, in which thyroid function is either normal or only mildly underactive. The condition is named after Vaughan Pendred, the British doctor who first described it in an Irish family living in Durham in 1896. There is no specific treatment for the syndrome itself. Care is supportive for the hearing loss, and thyroid hormone supplementation is given where the person develops hypothyroidism. Pendred syndrome is a relatively common cause of inherited deafness, accounting for an estimated 7.5 percent to 15 percent of all cases of congenital deafness.

Facts
Classification
Body System
Endocrine System 1
Body System
Ear 1
ICD-10 Chapter
IV: Endocrine, Nutritional and Metabolic Diseases 2
Communicable or Non-communicable
Non-Communicable 1
Causative Agent
Causative Agent (category)
Genetic / Hereditary 1
First Described
1896 1
Sources
1. Pendred syndrome (Wikipedia)
  • Lead section
    Pendred syndrome is a genetic disorder
  • Lead section [body-system]
    congenital bilateral sensorineural hearing loss
  • Lead section [body-system 2]
    goitre with euthyroid or mild hypothyroidism
  • Lead section [first-described-year]
    first described the condition in an Irish family living in Durham in 1896
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2. World Health Organization: ICD-10 Version:2019 - E07.1
World Health OrganizationICD-10 2019 category E07.1, Chapter IV
Quote, ICD-10 2019 category E07.1, Chapter IV
E07.1 Dyshormogenetic goitre Incl.: Familial dyshormogenetic goitre Pendred syndrome
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