Department of Medicine Faculty Profile

Samuel Refetoff
Section of Endocrinology, Diabetes and Metabolism
Professor of Medicine
Director, Endocrinology Laboratory
e-mail: refetoff@medicine.bsd.uchicago.edu
Referring Physician Access Line: 1-877-DOM-2730

Training:

Degree	Year	Institution	Area
BS	1959	University of Montreal	Biochemistry
MD	1963	McGill University
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
Fellowship	1968	Harvard University	Endocrinology

Academic Interests:

Dr. Samuel Refetoff specializes in adult endocrinology and pediatric thyroid diseased. 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. Together with Dr. Roy Weiss, they have one of the largest referral centers for genetic thyroid disease in the world.

Clinical Interests:

Thyroid diseases in children and adults.

Representative Publications:

Grasberger H, Refetoff S. Identification of a maturation factor for dual oxidase: evolution of an eukaryotic operon-equivalent. J. Biol. Chem, 281:18269-18272, 2006
Dumitrescu AM, Liao X-H, Best TD, Bruckmann K, Refetoff S. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am. J. Hum. Genet. 74:168-176, 2004
Grasberger H, Vaxillaire M, Pannain S, Beck JC, Mimouni-Bloch A, Vatin V, Vassart G, Froguel P, Refetoff, S. dentification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1. Hum Genet, 118:348-355, 2005
Dumitrescu AM, Liao X-H, Abdullah MSY, Lado-Abeal J, Abdul Majed F, Moeller LC, Boran G, Schomburg L, Weiss RE, Refetoff S. Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nature Genet, 37:1247-1252, 2005
Anselmo J, Cao D, Karrison T, Weiss RE, Refetoff S. Fetal loss associated with excess thyroid hormone. JAMA 292:691-695, 2004