Abstract
Thyroxine-binding globulin deficiency and significant mental deficiency were found to be associated in four males of one family, all of whom had absence of serum thyroxine-binding globulin (TBG). In 18 family members studied, two additional females had a decreased thyroxine (T4) binding capacity of TBG but were not retarded. No other specific cause of the mental retardation could be elicited. The hereditary nature of TBG deficiency and the associated neurological and mental defects could suggest that the gene loci for these disorders are "near" to each other, although no evidence is available to verify this possibility. The spectrum of this disorder should now be widened to include mental retardation as one of its features.
- Received February 18, 1972.
- Accepted June 8, 1972.
- Copyright © 1972 by the American Academy of Pediatrics
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