Pendred syndrome

Autosomal recessive with both seemingly normal parents carrying a copy of the Pendred syndrome (PDS) gene and each of their children having a 1 in 4 (25%) risk of inheriting both parental PDS genes and suffering from the syndrome.

Pendred syndrome was clinically recognized and concisely described in 1896 by the English general practitioner Vaughan Pendred (1869-1946). Exactly a century later, the gene for Pendred syndrome was discovered (by Coyle and Sheffield and colleagues) to be on chromosome 7q. From the syndrome to the gene from 1896-1996!

Pendred syndrome is also known as deafness with goiter, the goiter-deafness syndrome, and now (thanks to molecular medicine) thyroid hormone organification defect IIb.

Read Also:

  • Penetrance

    The likelihood that a given gene will result in disease.

  • Penetrant trait

    A genetic trait (characteristic) that is present in the genome and manifests itself in the individual. By contrast, a nonpenetrant trait is one that, although present, does not manifest itself. If, for example, 100 people have a particular genetic trait but only 80 of them express it, the penetrance of that trait is 80%. The […]

  • Penicillin history

    The discovery of penicillin, one of the major events in the history of medicine. In 1871 the scientist Joseph Lister by chance noticed that the mould which grows on cheese and fruit can make microbes (germs) grow weaker. He made some successful experiments on patients but did not, it seems, fully recognize the implications of […]

  • Penicillin-resistant bacteria

    Bacteria that are unaffected by penicillin. Such organisms can sometimes be killed using sulfa drugs, combinations of several medication or other tactics. The rise of penicillin-resistant bacteria is laid to overuse of penicillin drugs, including their ineffective but nonetheless frequent use against colds and other viral infections.

  • Penile

    Of or pertaining to the penis.

Disclaimer: Pendred syndrome definition / meaning should not be considered complete, up to date, and is not intended to be used in place of a visit, consultation, or advice of a legal, medical, or any other professional. All content on this website is for informational purposes only.