title: Thyroid function in Rubinstein-Taybi syndrome.
abstract: Rubinstein-Taybi syndrome (RTS) is a genetic syndrome characterized by broad thumbs and halluces, growth retardation, mental retardation, and craniofacial abnormalities. This condition recently was found to be caused by mutations in the gene encoding cAMP response element-binding protein (CREB)-binding protein. As CREB-binding protein has been shown to be a critical coactivator for thyroid hormone receptors, it is plausible that RTS would be characterized by thyroid hormone resistance. In fact, features of RTS, such as mental retardation and short stature, are consistent with thyroid hormone deficiency or resistance. To assess the function of the thyroid axis in RTS, free T4 and TSH were measured in 12 subjects with this syndrome. The free T4 level was normal in all 12 (mean +/- SD, 0.97 +/- 0.20 ng/dL; normal range, 0.73-1.79), as was the TSH level (2.24 +/- 0.87 microU/mL; normal range, 0.3-6.5). Thus, overt thyroid hormone resistance does not appear to be a typical feature of RTS.
authors.affiliation: Division of Endocrinology and Metabolism, University of Michigan Medical Center, Ann Arbor 48109-0678, USA.
authors.forename: D P
authors.initials: DP
authors.lastname: Olson
authors.forename: R J
authors.initials: RJ
authors.lastname: Koenig
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D012016:Reference Values; D012415:Rubinstein-Taybi Syndrome / Q000097:blood / Q000503:physiopathology*; D013961:Thyroid Gland / Q000503:physiopathology*; D013972:Thyrotropin / Q000097:blood; D013974:Thyroxine / Q000097:blood
chemical_list: D013972:Thyrotropin; D013974:Thyroxine