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Samuel Refetoff

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Samuel Refetoff
Born (1937-06-11) June 11, 1937 (age 87)
Ruse, Bulgaria
NationalityBulgarian-Canadian-American
Occupation(s)Endocrinologist and an academic
Academic background
EducationBaccalaureate
B.Sc.
M.D., C.M.
Alma materLicée High School in Antwerp, Belgium
University of Montreal, Canada
McGill University, Montreal, Canada
Academic work
InstitutionsThe University of Chicago

Samuel Refetoff is a Bulgarian-American endocrinologist and an academic. He is the Frederick H. Rawson Professor Emeritus in Medicine, Director of the Endocrinology Laboratories, Professor of Pediatrics, and Committee on Genetics at The University of Chicago.[1]

Refetoff is known for discovering resistance to thyroid hormone (RTH), also known as Refetoff syndrome[2] and its genetic and molecular basis,[3] along with resistance to thyrotropin (RTSH)[4] and a hereditary thyroid hormone metabolism defect caused by SECISBP2 gene mutations.[5] His research has focused on genetic defects in thyroid hormone regulation, synthesis, transport, and action, leading to the identification of multiple thyroid disorders. His scholarly contributions include publications in journals such as Endocrine Reviews, The Journal of Clinical Endocrinology & Metabolism, Nature Genetics, and Journal of Clinical Investigation Thyroid.[6]

Refetoff has received awards, including the Rosalind Pitt-Rivers Award,[7] the Stanbury Pathophysiology Medal,[8] Thyroid Research Mentor Awards, and the Fred Conrad Koch Medal.[9]

Education

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Refetoff completed his baccalaureate at the Lycée in Antwerp in 1955. He earned his B.Sc. (Hon.) in Biochemistry, from the University of Montreal in 1959 and obtained his M.D., C.M. from McGill University in 1963. During his postdoctoral training, he completed an Internship at Notre Dame Hospital from 1964 to 1965, followed by Residencies in Internal Medicine at the Hospital of the Good Samaritan in Los Angeles from 1964 to 1965 and at the Lahey Clinic, Boston, Massachusetts, from 1965 to 1966.[1]

Refetoff trained in Endocrinology as an Assistant in Medicine at Peter Bent Brigham Hospital and as a Research Fellow in Medicine at Harvard Medical School from 1966 to 1968.[10]

Career

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At the University of Chicago, Refetoff held appointments including Assistant Professor of Medicine from 1969 to 1973, Associate Professor of Medicine from 1973 to 1977, and Director of the Thyroid Function Laboratory from 1973 to 1994. In 1977, he also assumed the position of Professor of Medicine, which he held until 2000, and since 2001, he has held the title of The Frederick H. Rawson Professor in Medicine. Since 1983, he has also been a Professor of Pediatrics and, since 2001, a member of the Committee on Genetics there. Additionally, he served as Director of the Endocrinology Training Program during two separate periods, from 1978 to 1983 and from 1999 to 2004. He has been the Director of the Endocrinology Laboratories since 1994.[11] He was the Head of the Thyroid Study Unit from 2005 to 2022 and visited the Medical University of Sofia as a Fulbright Senior Specialist in 2011.[12]

Research

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Refetoff has worked in endocrinology, with research interests in congenital and genetic defects affecting thyroid hormone synthesis, transport, and action. Together with DeWind and DeGroot, he characterized a familial syndrome linking deaf-mutism, stippled epiphyses, goiter, and elevated PBI (formerly an estimate of circulating thyroid hormone). They proposed that the condition resulted from target tissue refractoriness to the hormone, which he later demonstrated to be caused by mutations in the thyroid hormone receptor beta (THRB) gene, leading to tissue resistance to the hormone.[13]

Refetoff identified mutations in proteins that transport thyroid hormone in blood, namely thyroxine-binding globulin (TBG)[14] and albumin, causing familial dysalbuminemic hyperthyroxinemia.[15] He also was first to identify mutations in the gene NKX2.1 that encodes TTF1, resulting in thyroid, brain and lung abnormalities.[16] His laboratory uncovered mutations of the SLC16A2 gene, encoding the thyroid hormone cell membrane transporter MCT8, which cause severe thyroid hormone deprivation in the brain, resulting in psychoneuromotor abnormalities formerly described by Allan, Herndon, and Dudley.[17] Along with A.M. Dumitrescu and others, he documented that mutations in the SECISBP2 gene disrupted selenoprotein synthesis, reducing the activity of all three iodothyronine deiodinases and impairing thyroid hormone metabolism, producing a variable clinical phenotype.[18] His identification of mutations in the TSH receptor gene in 1995 established a cause for resistance to TSH (RTSH).[19] Subsequently, in 2005, a new form of dominantly inherited RTSH was uncovered in several families and, although a linkage to a locus located on chromosome 15 was identified, the precise genetic cause eluded further investigation.[20]

Personal life

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Refetoff's father, a banker, contributed to the establishment of the University of Ruse. His first wife, Gunvor Thomsen, was Danish. Following her death in 1978 at the age of 42, he raised their three children with Heather Bendall from Hampshire, England, whom he married in 1980.[21]

Awards and honors

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  • 1989 – Doctor Honoris Causa, Free University of Brussels, Belgium
  • 1989–1999 – MERIT Award, National Institutes of Health (USA)
  • 1990 – Doctor Honoris Causa, University of Cagliari, Italy
  • 1991 – Paul Starr Award and Lectureship, The American Thyroid Association
  • 1996 – Sidney H. Ingbar Distinguished Lectureship Award, The American Thyroid Association[22]
  • 1999 – The Shizume Lecture Prize, Japan Thyroid Association
  • 2001 – Elected Corresponding Member, Belgian Royal Academy of Medicine
  • 2004 – Honorary Fellow, Royal College of Physicians of Ireland[23]
  • 2005 – Thyroid Pathophysiology Award Medal, The American Thyroid Association
  • 2006–2016 – MERIT Award, National Institutes of Health (USA)
  • 2011 – The Rosalind Pitt-Rivers Medal and Lectureship, The British Thyroid Association
  • 2012 – Fred Conrad Koch Medal, Endocrine Society[24]
  • 2013 – Honorary Member, European Thyroid Association[25]
  • 2014 – Doctor Honoris Causa, University of Ruse, Bulgaria[26]
  • 2018 – Honorary Member, Bulgarian Thyroid and Parathyroid Association
  • 2019 – The Lissitzky Medal, European Thyroid Association[27]

References

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  1. ^ a b "SAMUEL REFETOFF, MD Interview conducted by Michael Chappelle" (PDF). endocrine.org. Retrieved 2025-04-23.
  2. ^ "Refetoff Syndrome". Life in the Fast Lane. 9 April 2019. Retrieved 2025-04-23.
  3. ^ Refetoff, S (1989). "Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta". New England Journal of Medicine. 321 (20): 1291–1295. doi:10.1056/NEJM198911163212003. PMC 298414. PMID 2510172.
  4. ^ Sunthornthepvarakul, T (1995). "Resistance to Thyrotropin Caused by Mutations in the Thyrotropin-Receptor Gene". New England Journal of Medicine. 332 (1): 155–160. doi:10.1056/NEJM199501193320305. PMID 7990860.
  5. ^ Dumitrescu, A.M. (2005). "Mutations in SECISBP2 result in abnormal thyroid hormone metabolism". Nature Genetics. 37 (11): 1247–1252. doi:10.1038/ng1654. PMID 16200072.
  6. ^ "Samuel Refetoff–Google Scholar". Google Scholar. Retrieved 2025-04-23.
  7. ^ "The Pitt-Rivers and George Murray lectures". British Thyroid Association. Retrieved 2025-04-23.
  8. ^ "John B. Stanbury Thyroid Pathophysiology Medal". American Thyroid Association. Retrieved 2025-04-23.
  9. ^ "Past Laureate Award Recipients". Endocrine Society. 28 September 2022. Retrieved 2025-04-23.
  10. ^ "Samuel Refetoff". Life in the Fast Lane (LITFL). 11 April 2019. Retrieved 2025-04-23.
  11. ^ "Samuel Refetoff" (PDF). Scientific Atlas. Retrieved 2025-04-23.
  12. ^ "Final Nominations for Bulgarian Fulbright Grantees in AY 2012-2013" (PDF). Bulgarian-American Fulbright Commission. Retrieved 2025-04-23.
  13. ^ Refetoff, S.; DeWind, L.T.; DeGroot, L.J. (1967). "Familial Syndrome Combining Deaf-Mutism, Stippled Epiphyses, Goiter and Abnormally High PBI: Possible Target Organ Refractoriness to Thyroid Hormone". Journal of Clinical Endocrinology and Metabolism. 27 (2): 279–294. doi:10.1210/jcem-27-2-279. PMID 4163616. Retrieved 2025-04-23.
  14. ^ Yang, F.; Su, K.P.; Shulman, G.I.; Refetoff, S. (1989). "A mutation causing reduced biological activity and stability of thyroxine-binding globulin probably as a result of abnormal glycosylation of the molecule". Journal of Clinical Endocrinology & Metabolism. 68 (6): 1135–1140. doi:10.1210/mend-3-3-575. PMID 2501669.
  15. ^ Sunthornthepvarakul, T.; Refetoff, S. (1994). "An identical missense mutation in the albumin gene results in familial dysalbuminemic hyperthyroxinemia in 8 unrelated families". Journal of Clinical Endocrinology & Metabolism. 79 (2): 595–598. doi:10.1006/bbrc.1994.1998. PMID 8048949.
  16. ^ Bochukova, E.; Garin, I.; Ferraz-de-Souza, B.; Refetoff, S. (2012). "The Endocrine Society 2012 Laureate Awards". Endocrine Reviews. 38 (3): 179–181. doi:10.1210/mend.26.8.zmg1468. PMC 5416988.
  17. ^ Dumitrescu, A.M.; Refetoff, S. (2007). "A Novel Syndrome Combining Thyroid and Neurological Abnormalities Is Associated with Mutations in a Monocarboxylate Transporter Gene". American Journal of Human Genetics. 80 (3): 483–494. doi:10.1086/512491. PMC 1821097. PMID 17273977.
  18. ^ Dumitrescu, A.M.; Liao, X.H.; Abdulmessih, N.; Refetoff, S. (2005). "Mutations in SECISBP2 result in abnormal thyroid hormone metabolism". Nature Genetics. 37 (11): 1247–1252. doi:10.1038/ng1658. PMC 2156108. PMID 16200071.
  19. ^ Sunthornthepvarakul, T.; Heinrichs, C.; Refetoff, S. (1995). "Resistance to thyrotropin caused by mutations in the thyrotropin receptor gene". New England Journal of Medicine. 332 (3): 157–162. doi:10.1056/NEJM199501193320303. PMID 7990856.
  20. ^ Abu-Khudir, R.; Refetoff, S. (2024). "STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179". Nature Genetics. 56 (5): 877–888. doi:10.1038/s41588-024-01717-7. PMC 11472772. PMID 38714869.
  21. ^ Ross, D.S. (2024). "A Conversation with Samuel Refetoff, MD: How Treating One Family Stimulated a Lifelong Series of Major Discoveries in Thyroid Physiology and Disease". Thyroid. 34 (3): 223–226. doi:10.1089/thy.2024.0246. PMID 39163036.
  22. ^ "Sidney H. Ingbar Distinguished Lectureship Award". American Thyroid Association. Retrieved 2025-04-23.
  23. ^ "Accolades go to faculty, clinical staff in biological sciences". UChicago News. Retrieved 2025-04-23.
  24. ^ "Fred Conrad Koch Lifetime Achievement Award". Endocrine Society. Retrieved 2025-04-23.
  25. ^ "Honorary Members – European Thyroid Association". European Thyroid Association. Retrieved 2025-04-23.
  26. ^ "World-renowned scholar Samuel Refetoff nominated for the Nobel Prize also in Bulgaria". Bulgarian National Radio. Retrieved 2025-04-23.
  27. ^ "ETA prize winners 2019". European Thyroid Association. Retrieved 2025-04-23.
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