Section of Endocrinology, Diabetes and Metabolism
Professor of Medicine
Frederick H. Rawson Professor;
Referring Physician Access Line: 1-877-DOM-2730
|BS||1959||University of Montreal||Biochemistry
|Internship||1964||Notre Dame Hospital, Montreal Canada||Pediatrics/Medicine
|Residency||1965||The Hospital of Good Samaritan||Internal Medicine
|Residency||1966||Lahey Clinic Foundation||Internal Medicine
Dr. Samuel Refetoff specializes in adult endocrinology and pediatric thyroid disease. His laboratory work focuses on identifying genetic errors that cause defects in thyroid hormone regulation, synthesis, transport and action. Dr. Refetoff has described several genetic diseases of the thyroid. He has one of the largest referral centers for genetic thyroid disease in the world.
Thyroid diseases in children and adults.
- Generation of functional thyroid from embryonic stem cells. Antonica F, Kasprzyk DF, Opitz R, Iacovino M, Liao XH, Dumitrescu AM, Refetoff S, Peremans K, Manto M, Kyba M, Costagliola S. Nature. 2012 Nov 1;491(7422):66-71.
- Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent. Grasberger H, Refetoff S. J Biol Chem. 2006 Jul 7;281(27):18269-72.
- A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S. Am J Hum Genet. 2004 Jan;74(1):168-75. Erratum in: Am J Hum Genet. 2004 Mar;74(3):598.
- Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion. Di Cosmo C, Liao XH, Dumitrescu AM, Philp NJ, Weiss RE, Refetoff S. J Clin Invest. 2010 Sep;120(9):3377-88.
- Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Dumitrescu AM, Liao XH, Abdullah MS, Lado-Abeal J, Majed FA, Moeller LC, Boran G, Schomburg L, Weiss RE, Refetoff S. Nat Genet. 2005 Nov;37(11):1247-52.