Monoallelic Deletion in the 5' Gene as a Cause of Sporadic Nonendemic Simple Goiter Region of the Thyroglobulin
- 1 August 2001
- journal article
- case report
- Published by Mary Ann Liebert Inc in Thyroid®
- Vol. 11 (8) , 789-793
- https://doi.org/10.1089/10507250152484655
Abstract
The cause of sporadic simple goiter is unknown in most cases. Family studies have suggested that this disorder may have a genetic component in some patients. We have previously demonstrated that some cases of endemic and nonendemic simple goiter are associated with a mutation within exon 10 of the thyroglobulin gene. Here we report a study of 50 cases diagnosed as having nonendemic simple goiter, and found 1 case with a large heterozygous deletion within the thyroglobulin gene. The deletion involves the promoter region and the 11 first exons of this gene and is associated with a euthyroid state. We hypothesize that the absence of thyroglobulin synthesis from the deleted allele may be responsible for a decreased level of thyroglobulin mRNA. Euthyroidism would be achieved by thyrotropin (TSH) stimulation but at the expense of goiter development.Keywords
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