Challenging diagnosis of resistance to thyroid hormone in a patient with pituitary adenoma

BMJ Case Rep. 2019 Jul 19;12(7):e229430. doi: 10.1136/bcr-2019-229430.

Abstract

The elevation of thyroid hormone with a normal or elevated thyroid-stimulation hormone (TSH) occurs uncommonly. This set a diagnosis challenge between TSH-secreting pituitary adenoma and resistance to thyroid hormone (RTH). We report a case of a young female patient with palpitations, with elevated thyroid hormone and non-suppressed TSH. TSH receptor antibody was undetectable. Thyroid ultrasound revealed mild heterogeneous goitre, and MRI revealed a microadenoma with 7.5 mm length in pituitary's left lobe. Pituitary hormones were within normal ranges. The thyrotropin-releasing hormone stimulation test showed normal TSH elevation, consistent with RTH. The genetic test revealed a mutation in heterozygosity in THRB gene (G344R) confirming RTH-beta. No pituitary surgery or thyroidectomy was performed nor were prescribed any antithyroid drugs. Inappropriate secretion of TSH requires a high level of clinical suspicion and the proper laboratory, genetic and radiological studies to conduct a correct diagnosis and prevent unnecessary and potential harmful therapies.

Keywords: genetics; pituitary disorders; thyroid disease.

Publication types

  • Case Reports

MeSH terms

  • Adenoma / diagnosis*
  • Adenoma / genetics
  • Diagnosis, Differential
  • Female
  • Genetic Testing
  • Humans
  • Magnetic Resonance Imaging
  • Pituitary Neoplasms / diagnosis*
  • Pituitary Neoplasms / genetics
  • Thyroid Hormone Receptors beta / genetics
  • Thyroid Hormone Resistance Syndrome / diagnosis*
  • Thyroid Hormone Resistance Syndrome / genetics
  • Thyroid Hormones / blood
  • Young Adult

Substances

  • Thyroid Hormone Receptors beta
  • Thyroid Hormones