Hypothyroidism in Siblings Due to a Homozygous Mutation of the TSH-β Subunit Gene
- 1 January 2004
- journal article
- case report
- Published by Walter de Gruyter GmbH in Journal of Pediatric Endocrinology and Metabolism
- Vol. 17 (4), 669-672
- https://doi.org/10.1515/jpem.2004.17.4.669
Abstract
We report two American sisters of Scottish-Irish ancestry with isolated thyrotropin (TSH) deficiency. The diagnosis of central congenital hypothyroidism was based on low levels of TSH and free thyroxine. Sequencing of the TSH-beta subunit gene revealed a homozygous single nucleotide deletion in codon 105, producing a frame shift and resulting in inactive TSH. This mutation has previously been reported in a Brazilian family, two German families, and a Belgian family. Our case, along with a review of the other reports, supports the theory that this mutation may be a common cause of isolated TSH deficiency.Keywords
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