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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Jenkins, M.B., Steffes, M.W. Congenital thyroxine binding globulin deficiency: incidence and inheritance. Hum Genet 77, 80–84 (1987). https://doi.org/10.1007/BF00284719
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DOI: https://doi.org/10.1007/BF00284719