Elevated free thyroxine and non-suppressed thyrotropin

BMJ Case Rep. 2013 Oct 28:2013:bcr2013201527. doi: 10.1136/bcr-2013-201527.

Abstract

A young man was diagnosed with hyperthyroidism 10 years prior to current presentation after a random health screening revealed an elevated free thyroxine (fT4) of 36.9 pmol/L. During that time, he saw multiple physicians and was treated with carbimazole intermittently. His repeat thyroid function tests showed persistently elevated fT4 ranging 25-35.7 pmol/L and non-suppressed thyroid-stimulating hormone (TSH) concentrations of 6.78-22.1 mIU/L. He had a smooth, firm and non-tender goitre. At our institution, laboratory interference was first excluded by serial dilution study (TSH) and retesting of TSH and fT4 on alternate assay, which gave reproducible results. His normal α-subunit and sex hormone binding globulin, partially suppressed TSH by high dose triiodothyronine (T3), and positive TSH response to thyrotropin-releasing hormone stimulation were consistent with resistance to thyroid hormone syndrome. The diagnosis was confirmed by direct sequencing of thyroid hormone receptor-β gene, revealing a heterozygous R320 L mutation that causes reduced T3 affinity and reduced corepressor dissociation.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Carbimazole / therapeutic use
  • Drug Resistance / genetics*
  • Follow-Up Studies
  • Genetic Predisposition to Disease*
  • Humans
  • Hyperthyroidism / blood*
  • Hyperthyroidism / diagnosis
  • Hyperthyroidism / drug therapy*
  • Hyperthyroidism / genetics
  • Male
  • Pedigree
  • Propranolol / therapeutic use
  • Severity of Illness Index
  • Thyroid Function Tests
  • Thyrotropin / blood*
  • Thyrotropin / metabolism
  • Thyroxine / blood*
  • Thyroxine / metabolism
  • Treatment Failure

Substances

  • Carbimazole
  • Thyrotropin
  • Propranolol
  • Thyroxine