Hypothyroidism in siblings due to a homozygous mutation of the TSH-β subunit gene

Eric I. Felner, Bryan A. Dickson, Perrin C. White

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


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 languageEnglish (US)
Pages (from-to)669-672
Number of pages4
JournalJournal of Pediatric Endocrinology and Metabolism
Issue number4
StatePublished - 2004


  • Central hypothyroidism
  • TSH-β subunit

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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