Samuel Refetoff

Biography

• 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

• Refetoff Syndrome (1967) – syndrome of thyroid hormone resistance (TRH)

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.

Controversies

Major Publications

• Refetoff S, DeWind LT, DeGroot LJ. Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J Clin Endocrinol Metab. 1967;27(2):279-294. [PMID 4163616] [Refetoff Syndrome]

References

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