familial goiter

(redirected from iodide transport 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 ?
We previously reported a case of iodide transport defect with elevated bromide levels that responded to low dose iodine (half tablet of Iodoral[R]/day) and vitamin C at 3 g/day.
The saliva/serum iodide ratio is currently used to diagnose congenital iodide transport defect in newborns with elevated TSH and low thyroid hormone levels.
The ideal set-up for the evaluation and follow-up of patients with iodide transport defect on nutritional intervention should include measurement of stable iodide in the thyroid gland by FEA.
Recurrent T354P mutation of the Na+/I symporter in patients with iodide transport defect. J Clin Endocrinol Metab 83:2940-2943.
A novel V59E missense mutation in the sodium iodide symporter gene in a family with iodide transport defect. Thyroid 10:471-474.
A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect. J Clin Endocrinol Metab 84:336-341.
Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients.
A novel peculiar mutation in the sodium/iodide symporter gene in Spanish siblings with iodide transport defect. J Clin Endocrinol Metab 87:3830-3836.
High prevalence of T354P sodium/iodide symporter gene in Spanish siblings with iodide transport defect. J Clin Endocrinol Metab 83:4123-4129.
If the pre-orthoiodosupplementation loading test report shows 90% or more of the ingested iodine in the 24-hour urine collection of patients on a Western diet, serum inorganic iodide levels are indicated to rule out an iodide transport defect or damage not just in the thyroid gland but throughout the whole body.