familial goiter

(redirected from coupling defect)

fa·mil·i·al goi·ter

a group of heritable thyroid disorders in which goiter is commonly apparent first during childhood; often associated with skeletal and/or mental retardation, and with other signs of hypothyroidism that may develop with age. Various types of familial goiter have been identified: iodide transport defect [MIM*274400]; of autosomal recessive inheritance caused by mutation in the sodium iodide symporter gene (SLC5A5) on 19p, in which the gland is unable to concentrate iodide; organification defect [MIM*274500 and *274600], in which the iodination of tyrosine is defective; Pendred syndrome [MIM*274600]; autosomal recessive inheritance caused by mutation in the Pendred syndrome gene (PDS) on 7q; associated with hearing loss; coupling defect [MIM*274700], in which cretinism results from defective coupling of iodotyrosines to form iodothyronines; iodotyrosine deiodinase defect [MIM*274800], in which deiodination of iodotyrosine is defective, considerable glandular loss of these hormonal precursors occurs, and cretinism may be present; plasma iodoprotein disorder [MIM*274900], in which an abnormal iodinated serum protein that is insoluble in acidic butanol is present; and hereditary hyperthyroidism.

fa·mil·i·al goi·ter

(fă-mil'ē-ăl goy'tĕr)
A group of heritable thyroid disorders in which goiter is commonly apparent first during childhood; often associated with skeletal or mental retardation, and with other signs of hypothyroidism that may develop with age.

fa·mil·i·al goi·ter

(fă-mil'ē-ăl goy'tĕr)
Group of heritable thyroid disorders in which goiter is commonly apparent first during childhood; often associated with skeletal and/or mental retardation, and with other signs of hypothyroidism that may develop with age.
References in periodicals archive ?
The use of the mechanical / power brake proposed to become part of the execution element contributes to the reduction of the mechanical coupling defects, especially when the mechanism is used in high-temperature environments.