Early diagnosis and treatment of an infant with a novel thyroid hormone receptor a gene (pC380SfsX9) mutation

Ary E. Furman, Alexandra M. Dumitrescu, Samuel Refetoff, Roy E. Weiss

Research output: Contribution to journalArticlepeer-review

Abstract

Resistance to thyroid hormone alpha (RTHa) is caused by mutations in thyroid hormone receptor a (THRA). Little is known about the natural history and treatment of RTHa, and diagnosis before the age of 1 year has not been previously reported. A de novo heterozygous THRA mutation (pC380SfsX9) was identified in a 10-month-old female investigated for developmental delay, hypotonia, macrocephaly, and severe constipation. Treatment with levothyroxine was accompanied by an appropriate rise in thyroxine (T4), triiodothyronine (T3), as well as decrease in thyrotropin levels and in the T3/T4 ratio with a trend toward normalization of peripheral markers of thyroid hormone action. THRA pC380SfsX9 results in extreme RTHa.

Original languageEnglish (US)
Pages (from-to)922-932
Number of pages11
JournalThyroid
Volume31
Issue number6
DOIs
StatePublished - Jun 2021

Keywords

  • Dominant negative effect
  • Dyshormonogenesis
  • Genetics
  • Resistance to thyroid hormone alpha
  • Thyroid hormone receptor alpha

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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