Phenotype differences of resistance to thyroid hormone in two unrelated families with an identical mutation in the thyroid hormone receptor β gene (R320C)

Roy E Weiss, Hakan Tunca, Whitfield L. Knapple, Fred H. Faas, Samuel Refetoff

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

A new family with resistance to thyroid hormone (RTH) harboring a mutation in the thyroid hormone receptor (TR) β gene (R320C) is reported. The phenotype of affected members is compared to that of affected members of an unrelated family with an identical mutation in the TRβ gene that occurred independently. In one of the two families higher concentrations of free T4 were required to maintain a normal TSH level in affected subjects and unaffected first degree relatives but not in relatives by marriage. While this finding suggests that genetic background modulated the relative insensitivity to thyroid hormone caused by the mutant TRβ, it is uncertain whether the higher thyroid hormone levels prevented the occurrence of hyperactivity and attention deficit.

Original languageEnglish (US)
Pages (from-to)35-38
Number of pages4
JournalThyroid
Volume7
Issue number1
StatePublished - 1997
Externally publishedYes

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Thyroid Hormone Resistance Syndrome
Thyroid Hormone Receptors
Phenotype
Mutation
Genes
Thyroid Hormones
Marriage

ASJC Scopus subject areas

  • Endocrinology

Cite this

Phenotype differences of resistance to thyroid hormone in two unrelated families with an identical mutation in the thyroid hormone receptor β gene (R320C). / Weiss, Roy E; Tunca, Hakan; Knapple, Whitfield L.; Faas, Fred H.; Refetoff, Samuel.

In: Thyroid, Vol. 7, No. 1, 1997, p. 35-38.

Research output: Contribution to journalArticle

Weiss, Roy E ; Tunca, Hakan ; Knapple, Whitfield L. ; Faas, Fred H. ; Refetoff, Samuel. / Phenotype differences of resistance to thyroid hormone in two unrelated families with an identical mutation in the thyroid hormone receptor β gene (R320C). In: Thyroid. 1997 ; Vol. 7, No. 1. pp. 35-38.
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