Pendred syndrome
Pendred syndrome (PDS) is the hereditary association of congenital deafness (deafness at the time of birth) and goiter (enlargement of the thyroid gland in the front of the neck) due to a defect in the making of thyroid hormone. The features of Pendred syndrome in outline are as follows: Inner ear: Congenital neurosensory (nerve) deafness; defect in vestibular function; and malformation of the balance portion of the ear (cochlea); Hormonal: Seemingly normal level of thyroid hormones (euthyroid) due to compensated hypothyroidism; Neck: Goitrous swelling in front of neck; Intelligence: Mental retardation (due to congenital thyroid defect); Oncology : Possible increased risk of thyroid carcinoma (thyroid carcinoma); Laboratory : Evidence for defect in the making of thyroid hormone (thyroid hormone organification defect); and Inheritance: 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.

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Pen·dred syndrome (penґdred) [Vaughan Pendred, English physician, 1869–1946] see under syndrome.

Medical dictionary. 2011.

Look at other dictionaries:

  • Pendred syndrome — Classification and external resources OMIM 274600 DiseasesDB 9771 GeneReviews …   Wikipedia

  • Pendred syndrome — Pendred syndrome. См. синдром Пендреда. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Syndrome, Pendred — Pendred syndrome (PDS) is the hereditary association of congenital deafness (deafness at the time of birth) and goiter (enlargement of the thyroid gland in the front of the neck) due to a defect in the making of thyroid hormone. The features of… …   Medical dictionary

  • Syndrome de pendred — Autre nom {{{Autre nom}}} Référence MIM …   Wikipédia en Français

  • Syndrome de Pendred — Référence MIM 274600 Transmission Récessive Chromosome 7q31 Gène SLC26A4 Mutation Ponctuelle …   Wikipédia en Français

  • Syndrome, goiter-deafness — The goiter deafness syndrome, commonly called Pendred syndrome, is the hereditary association of congenital deafness (deafness at the time of birth) and goiter (enlargement of the thyroid gland in the front of the neck) due to a defect in the… …   Medical dictionary

  • Pendred's syndrome — ▪ pathology       hereditary metabolic condition that is characterized by deafness and defective incorporation of iodine into thyroid hormone, resulting in goitre or enlargement of the thyroid gland. Pendred s syndrome is a major cause of… …   Universalium

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • Pendred's syndrome — goitre associated with congenital deafness due to deficiency of peroxidase, an enzyme that is essential for the utilization of iodine. V. Pendred (1869 1946), British physician …   Medical dictionary

  • Pendred's syndrome — goitre associated with congenital deafness due to deficiency of peroxidase, an enzyme that is essential for the utilization of iodine. [V. Pendred (1869–1946), British physician] …   The new mediacal dictionary

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