familial goiter

(redirected from organification 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 ?
5965fsX994) have been identified in patients with iodide organification defect (25).
In the present study, screening by single-strand conformational polymorphism (SSCP) and direct sequencing analysis of the DUOX2 gene revealed 3 previously unreported mutations and 1 previously reported mutation in 2 unrelated families with congenital goiter and iodide organification defect, constituting 2 compound heterozygous mutations (p.
We studied 17 selected unrelated patients with iodide organification defect (perchlorate discharge test [greater than or equal to]30%) from an original cohort of 40 patients with congenital goitrous hypothyroidism at screening.
His perchlorate discharge test result (46%)indicated a iodide organification defect.
5 years, the etiology of her condition was assessed after withdrawal of the thyroxine supplementation, and hypothyroidism attributable to iodide organification defect was suspected (perchlorate discharge test result, 68%).
Values >10% were considered as a failure to retain the administered radioiodine, probably because of a congenital organification defect or an autoimmune thyroid disease.
Intake of perchlorate from a contaminated source may cause discharge of iodide from the thyrocyte, further exacerbating the organification defect, with resulting decrease of TH synthesis.
TPO defects are believed to be among the most frequent causes of abnormalities in thyroid iodide organification defect causing goitrous CH.
A 20 base pair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism.
Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings.
Thyroperoxidase gene mutations in congenital goitrous hypothyroidism with total and partial iodide organification defect.
High prevalence of e novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect and evidence for a founder effect.