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Related Experiment Videos

Thyroxine-binding globulin deficiency detected by newborn screening

S Mandel1, C Hanna, B Boston

  • 1Department of Pediatrics, Oregon Health Sciences University, Portland 97201.

The Journal of Pediatrics
|February 1, 1993
PubMed
Summary

Inherited thyroxine-binding globulin (TBG) deficiency is common in Northwest boys, affecting 1 in 1700. This X-linked disorder impacts thyroid hormone levels, but free T4 remains normal in affected infants.

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Area of Science:

  • Endocrinology
  • Genetics
  • Neonatal Screening

Background:

  • Thyroxine-binding globulin (TBG) is crucial for thyroid hormone transport.
  • Inherited TBG deficiency is an X-linked disorder affecting thyroid hormone levels.
  • Neonatal screening programs identify infants with potential thyroid abnormalities.

Purpose of the Study:

  • To determine the prevalence of inherited thyroxine-binding globulin (TBG) deficiency in infants.
  • To assess the impact of TBG deficiency on thyroid hormone concentrations in newborns.

Main Methods:

  • Analysis of data from the Northwest Regional Screening Program (1975-1991).
  • Inclusion of infants with low T4 levels on filter paper tests.
  • Measurement of serum T4, T3RU, and thyrotropin levels.

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Main Results:

  • TBG deficiency identified in 1:4315 infants overall (1:2400 for boys).
  • Higher frequency observed in Oregon (1:3080), likely due to more comprehensive screening.
  • TBG-deficient boys showed altered T4 and T3RU values; free T4 levels were normal.
  • TBG deficiency is significantly more common in boys (male/female ratio 8.9:1).

Conclusions:

  • Inherited TBG deficiency is a relatively common condition in Northwest boys.
  • The disorder causes significant alterations in total T4 and T3RU but not free T4.
  • Screening programs can identify this genetic condition, which requires careful interpretation of thyroid function tests.