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
- 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.
- 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]
- Chappelle M. Samuel Refetoff, MD. The Endocrine Society Oral History Collection The Clark Sawin Library. 2011
the person behind the name