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familial goiter


Definition: 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.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.