Refetoff Syndrome

Description

Refetoff Syndrome: Thyroid hormone resistance is a rare syndrome in which thyroid hormone levels are elevated but the thyroid stimulating hormone (TSH) level is not suppressed (or not completely suppressed as would be expected).

History

1967 – first report of the condition appeared by Samuel Refetoff

Associated Persons

• Samuel Refetoff (1937 – )

Alternative names

• Thyroid hormone resistance (TRH)

Controversies

• Did they first describe or popularise or plagiarise?

References

• Refetoff S, DeWind LT, DeGroot LJ. Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J Clin Endocrinol Metab. 1967;27(2):279-294. [PMID 4163616] [Refetoff Syndrome]