Samuel Refetoff, MD, 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). He has 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.