Samuel Refetoff


Samuel Refetoff (1937 – ) Bulgarian born, Canadian qualified, American practicing endocrinologist.

Refetoff is known for his discovery of resistance to thyroid hormone (Refetoff Syndrome, 1967) and the elucidation of its genetic and molecular basis (1989/92).

Refetoff identified two other syndromes: resistance to thyrotropin (RTSH) and the inherited defect that affects the metabolism of thyroid hormones through mutations in SECISBP2 gene



  • Born 11 June 1937 Ruse, Bulgaria
  • Emigrated to Belgium and studied in a French-speaking high school in Antwerp
  • 1959 – Baccalaureate degree, University of Montreal
  • 1963 – MD, McGill University
  • 1964 – Intern at Hospital Notre Dame, Montreal
  • 1965 – Resident at The Hospital of the Good Samaritan, California. Here he initiated studies on a patient who presented with the combination of stippled epiphyses, goiter, deafness, and an elevated protein-bound iodine. The index family from which Refetoff syndrome was identified
  • 1966-1968 Endocrine Fellowship, Peter Bent Brigham Hospital. With Leslie DeGroot, developed the clinical description of Resistance to thyroid hormone (RTH)
  • 1969 – University of Chicago. Identified resistance to thyrotropin (RTSH)
  • Professor of medicine, pediatrics and genetics at the University of Chicago

Medical Eponyms

Key Medical Attributions

  • First to describe the molecular basis for familial dysalbuminemic hyperthyroxinemia
  • First to identify mutations in the thyroxine-binding globulin gene and a mutation in the thyroid transcription factor 1 (TTF1) gene that produces predominantly neurological defects.


Major Publications


  • Chappelle M. Samuel Refetoff, MD. The Endocrine Society Oral History Collection The Clark Sawin Library. 2011

eponymictionary CTA


the person behind the name

BA MA (Oxon) MBChB (Edin) FACEM FFSEM. Emergency physician, Sir Charles Gairdner Hospital.  Passion for rugby; medical history; medical education; and asynchronous learning #FOAMed evangelist. Co-founder and CTO of Life in the Fast lane | Eponyms | Books | Twitter |

Leave a Reply

This site uses Akismet to reduce spam. Learn how your comment data is processed.