Samuel Refetoff

Bulgarian-born endocrinologist and academic From Wikipedia, the free encyclopedia

Samuel Refetoff (born 11 June 1937) is a Bulgarian-born endocrinologist and academic. He is the Frederick H. Rawson Professor in Medicine at the University of Chicago, where he directs the Endocrinology Laboratories.[1] He is best known for describing Thyroid hormone resistance, a condition now also referred to as "Refetoff Syndrome".[2]

Born (1937-06-11) June 11, 1937 (age 88)
OccupationsEndocrinologist, academic
KnownforDiscovery of Thyroid hormone resistance ("Refetoff Syndrome")
AwardsPaul Starr Award (1991), Sidney H. Ingbar Distinguished Lectureship (1996), John B. Stanbury Medal (2005), Fred Conrad Koch Medal (2012)
Quick facts Born, Occupations ...
Samuel Refetoff
Born (1937-06-11) June 11, 1937 (age 88)
OccupationsEndocrinologist, academic
Known forDiscovery of Thyroid hormone resistance ("Refetoff Syndrome")
AwardsPaul Starr Award (1991), Sidney H. Ingbar Distinguished Lectureship (1996), John B. Stanbury Medal (2005), Fred Conrad Koch Medal (2012)
Academic background
Alma materUniversity of Montreal, McGill University
Academic work
InstitutionsUniversity of Chicago
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Early life and education

Refetoff was born in Ruse, Bulgaria and grew up in Belgium and Canada. He graduated from the Lycée in Antwerp in 1955, earned a B.Sc. (Honours) in Biochemistry from the University of Montreal in 1959, and obtained his M.D., C.M. from McGill University in 1963.[3]

Following an internship at Hôpital Notre-Dame (1964–1965), he trained in internal medicine at Good Samaritan Hospital, Los Angeles (1964–1965) and at Lahey Clinic, Massachusetts (1965–1966). He completed an endocrinology fellowship at Harvard Medical School and Peter Bent Brigham Hospital from 1966 to 1968.[4]

Career

Refetoff joined the University of Chicago faculty in 1969. He served as director of the Thyroid Function Laboratory (1973–1994) and has been director of the Endocrinology Laboratories since 1994. He has also held professorships in medicine, pediatrics, and genetics.[5] From 1978 to 1983 and 1999 to 2004, he directed the Endocrinology Training Program. In 2011, he was a Fulbright senior specialist at the Medical University of Sofia.[6]

Research

Refetoff's work has focused on genetic disorders affecting thyroid hormone synthesis, transport, and action. He co-identified the syndrome of generalized resistance to thyroid hormone in 1967.[7] His group has described mutations in:

  • Thyroxine-binding globulin causing inherited TBG deficiency
  • Albumin causing familial dysalbuminemic hyperthyroxinemia
  • NKX2-1 gene affecting thyroid, brain, and lung development
  • MCT8 (SLC16A2) associated with Allan–Herndon–Dudley syndrome
  • SECISBP2 affecting selenoprotein synthesis and thyroid hormone metabolism.[8]

Awards and honours

References

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