Samuel Refetoff was born 11 June 1937 Ruse, Bulgaria. Later he emigrated to Belgium, where he graduated from French-speaking high school in Antwerp. Canadian qualified, American practicing endocrinologist. Dr. Samuel Refetoff is an endocrinologist in Chicago, Illinois, and received an MD degree from the University of Chicago. He received his medical degree from McGill University Faculty of Medicine and has been in practice for more than 20 years.
Samuel Refetoff’s expertise is in congenital and inherited thyroid diseases, specializes in adult and pediatric endocrinology. Endocrinologists treat disorders of the hormone-secreting glands that regulate countless body functions, which include metabolic and nutritional disorders, diabetes, thyroid ailments, pituitary diseases, menstrual and sexual problems.
Samuel Refetoff discovered the Refetoff syndrome, resistance to thyrotropin (RTSH), and the inherited defect that affects the metabolism of thyroid hormones through mutations in SECISBP2 gene.
He discovered the Refetoff Syndrome, 1967 and the elucidation of its genetic and molecular basis in 1989/92.
Thyroid hormone resistance (also resistance to thyroid hormone (RTH), and sometimes Refetoff syndrome) describes a rare syndrome in which the thyroid hormone levels are elevated but the thyroid-stimulating hormone (TSH) level is not suppressed, or not completely suppressed as would be expected.
The most common cause of the syndrome are mutations of the β (beta) form of the thyroid hormone receptor, of which over 100 different mutations have been documented. The syndrome can present with variable symptoms, even between members of the same family harboring the same mutation.
Refetoff is also a professor of medicine, pediatrics and genetics at the University of Chicago. His research work has resulted in more than over 500 publications and has been awarded with a MERIT award from the National Institutes of Health. He serves on the editorial board of five endocrinology journals.
- Chappelle M. Samuel Refetoff, MD. The Endocrine Society Oral History Collection The Clark Sawin Library. 2011
- 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]
- Refetoff Syndrome (1967) – syndrome of thyroid hormone resistance (TRH)
- Samuel Refetoff’s Lab