Endocrine Abstracts

Samuel Refetoff, University of Chicago, IL, USA. Abstract

Samuel Refetoff is known for his discovery (1967) of resistance to thyroid hormone (Refetoff Syndrome) and elucidation of its genetic and molecular basis (1989/92).

Devoted to the study of inherited thyroid disorders, his laboratory was first to identify mutations in: serum TH transport proteins [TBG (1989) and albumin (1994)]; the TSH receptor producing resistance to TSH (1995); and two syndromic thyroid defects combining neuropsychological and thyroid abnormalities caused by mutations in the TTF1 (2002) and the MCT8 (2004) genes.

In 2005 his laboratory identified a defect of TH metabolism caused by mutations in the SBP2 gene, which is involved in the synthesis of selenoproteins.

A graduate of McGill University, Dr. Refetoff is professor of medicine, pediatrics and genetics at the University of Chicago.

He is author of over 470 publications and recipient of numerous national and international prizes, two NIH MERIT awards (1989/2006) and two honorary doctorate degrees.