Congenital thyroxine binding globulin deficiency: incidence and inheritance
β Scribed by Malcolm B. Jenkins; Michael W. Steffes
- Book ID
- 104704606
- Publisher
- Springer
- Year
- 1987
- Tongue
- English
- Weight
- 491 KB
- Volume
- 77
- Category
- Article
- ISSN
- 0340-6717
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β¦ Synopsis
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.
π SIMILAR VOLUMES
Free T4 calculation was performed based on the equation of the law of mass action between T4 and TBG assessed by routine radioimmunoassay. To examine the validity of this calculation, sera from normal subjects, from hypo- and hyperthyroid patients, from subjects with hereditary deficiency or increas
The variant thyroxine-binding globulin in a family from Montreal (TBG-M) has a reduced affinity for thyroxine, shows a slight cathodal shift on isoelectric focusing, and has an increased susceptibility to inactivation by heat and acid. We present the molecular basis for TBG-M, deduced by sequencing