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-β 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.
Original language | English (US) |
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Pages (from-to) | 669-672 |
Number of pages | 4 |
Journal | Journal of Pediatric Endocrinology and Metabolism |
Volume | 17 |
Issue number | 4 |
DOIs | |
State | Published - 2004 |
Keywords
- Central hypothyroidism
- TSH-β subunit
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Endocrinology, Diabetes and Metabolism
- Endocrinology