PEDIATRICS Vol. 44 No. 4 October 1969, pp. 518-525
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PARTIAL THYROXINE-BINDING GLOBULIN DEFICIENCY IN A FAMILY

Ralph E. Moloshok M.D.1, Lillian Y. F. Hsu M.D.1, Ulysses S. Seal Ph.D.1, and Kurt Hirschhorn M.D.1

1 Department of Pediatrics, Mount Sinai School of Medicine, New York, and Metabolic Research Laboratory, Veteran Administration Hospital, Minneapolis, Minnesota

Deficiency of thyroxine-binding globulin (TBC) has been previously described in several families, and the mode of inheritance in most families has been interpreted as X-linked. The hemizvgous affected males have an absence of TBC, while the heterozygous females have wide range of TBC values (low to normal). A family recently studied by us presents a different form of TBG deficiency. The proband, who was born with ambiguous external genitalia and raised as a female, was found to have a testis on one side and a streak gonad on the other side. Her chromosome constitution showed a mosaicism of XYY/XY/XO. After a low PBI level was obtained, she was found to have reduced but not absent TBG activity. Similar reduction of TBC was found in her brother, who also had congenital hypothyroidism, and her normal male first cousin. The observation of the reduction of TBG levels rather than a total absence in the hemizygous affected individuals in this family suggests a variant of TBG deficiency, although it still appears to be due to an X-linked gene and is most likely due to an allele of the same gene.

Submitted on March 10, 1969
Accepted on April 24, 1969