Congenital thyroxine binding globulin deficiency: incidence and inheritance |
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| Authors: | Malcolm B Jenkins Michael W Steffes |
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| Institution: | (1) Human Genetics Unit, Minnesota Department of Health, University of Minnesota School of Medicine, 717 S.E. Delaware Street, 55440 Minneapolis, MN, USA;(2) Department of Laboratory Medicine and Pathology, University of Minnesota School of Medicine, 717 S. E. Delaware Street, 55440 Minneapolis, MN, USA |
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| Abstract: | Summary Ninety-nine cases of thyroxine binding globulin (TBG) deficiency (90 males and 9 females) were identified among low-T4 infants after newborn hypothyroid screening. The data indicate that inherited TBG deficiency occurs in at least 1: 5,000 newborns (1:2,800 males) and that mild and more pronounced forms are found in approximately equal proportions. Genetic analysis indicates that X-linked inheritance is the usual mode with no suggestion of autosomal inheritance. |
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