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Samuel Refetoff, MD

Professor Emeritus of Medicine and Pediatrics

Director, Endocrinology Laboratory

Dr. Samuel Refetoff specializes in adult and pediatric endocrinology, with expertise in congenital and inherited thyroid diseases.

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, including resistance to thyroid hormone (Refetoff’s syndrome). Together with Dr. Roy Weiss they have one of the largest referral centers for genetic thyroid disease in the world.

His research work is supported by a MERIT award from the National Institutes of Health, which has resulted in more than 480 publications. He serves on the editorial board of five endocrinology journals.

Practice Location

Duchossois Center for Advanced Medicine
5758 S. Maryland Avenue
Chicago, IL 60637

Year Started Practice


Medical School

McGill University


Notre Dame Hospital, Montreal, Canada


Good Samaritan Hospital, Los Angeles
Lahey Clinic, Boston


Peter Bent Brigham Hospital, Boston


American Society for Clinical Investigation
American Society of Human Genetics
American Thyroid Association
Association of American Physicians
Belgian Royal Academy of Medicine
Bulgarian Academy of Sciences and Arts
Canadian Medical Association
European Thyroid Association
Lawson Wilkins Pediatric Endocrine Society
Royal College of Physicians of Ireland
The Endocrine Society

Languages Spoken



Office Phone

(773) 702-6939

Office Fax

(773) 702-6940

Office Postal Address

Samuel Refetoff, MD
The University of Chicago Medicine
5841 S. Maryland Avenue, MC 3090
Chicago, IL 60637

Physician Photo

Clinical Interests

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Read More About Dr. Refetoff

Learn more about Dr. Refetoff's research on excess thyroid hormones and its effect on the fetus.

Selected Publications

View a partial list of Dr. Refetoff's publications through the National Library of Medicine's PubMed online database.