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Familial Dysalbuminemic Hypertriiodothyroninemia: A New, Dominantly Inherited Albumin Defect¹

Department of Medicine, Rajavithi Hospital (T.S., S.N., S.K.), Department of Pediatrics, Siriraj Hospital, Mahidol University (K.A., S.L.), Bangkok, Thailand; Department of Medicine (N.H.S., S.R.) and Pediatric (S.R.) and the J. P. Kennedy Jr. Mental Retardation Research Center (S.R.), The University of Chicago, Chicago, Illinois 60637

Address correspondence and requests for reprints to: Thongkum Sunthornthepvarakul, M.D., Rajavithi Hospital, Bangkok 10400, Thailand. E-mail: thongkum{at}health.moph.go.th

We report the abnormal albumin in members of a Thai family that presented with high serum total T₃ but not T₄ when measured by radioimmunoassay. In contrast, total T₃ values were very low when measured by ELISA and chemiluminescence. The subjects have no goiter, and clinically euthyroid. Their serum free T₄, free T₃, and TSH were normal. Spiking of T₃ to affected serum showed good recovery by radioimmunoassay, but very poor recovery by ELISA and by chemiluminescence. The immunoprecipitation with labeled T₃ bound to albumin showed high percent precipitation in affected serum. T₃-binding studies showed that the association constant of serum albumin in affected subjects was 1.5 x 10⁶ M^-1 or 40-fold that of unaffected relatives of 3.9 x 10⁴ M^-1. In contrast, the K_a of HSA for T₄ in an affected subject was only 1.5-fold that of a normal. Albumin complementary DNA from leukocytes of affected member was amplified and sequenced. We found the second nucleotide of normal codon 66 (CTT), a thymine, was substituted by a cytosine (CCT), resulting in the replacement of the normal leucine by proline. This is the first report of variant albumin causing familial dysalbuminemic hypertriiodothyroninemia.

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