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Thyroxine binding globulin excess detected by neonatal screening.

Hye Young Jin1

  • 1Department of Pediatrics, Inje University Haeundae Paik Hospital, Inje University College of Medicine, Busan, Korea.

Annals of Pediatric Endocrinology & Metabolism
|July 28, 2016
PubMed
Summary

Inherited thyroxine binding globulin (TBG) excess causes high T4 and T3 levels but normal free T4. This condition, identified via neonatal screening, requires considering TBG excess in hyperthyroxinemia diagnoses.

Keywords:
HyperthyroxinemiaThyroxine-binding globulinTriiodothyronine

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Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • Inherited thyroxine binding globulin (TBG) disorder is a genetic condition affecting thyroid hormone transport.
  • TBG excess leads to elevated total thyroxine (T4) and triiodothyronine (T3) with normal free hormone levels.
  • TBG deficiency results in low total T4 and T3 with normal free hormone levels.

Purpose of the Study:

  • To report a case of inherited TBG excess identified through neonatal screening.
  • To highlight the diagnostic considerations for hyperthyroxinemia in newborns.

Main Methods:

  • Case report of a newborn with hyperthyroxinemia detected by neonatal screening.
  • Hormonal profile analysis including total T4, free T4 (fT4), total T3, free T3, thyroid stimulating hormone (TSH), and TBG levels.
  • Longitudinal monitoring of hormone levels and physical development.

Main Results:

  • The newborn presented with elevated T4 and T3 levels, normal fT4 and TSH, and significantly high TBG levels (2-3 times normal).
  • Hormonal studies consistently showed elevated total T3 and T4 with normal fT4 and free T3, alongside normal TSH.
  • The infant exhibited normal growth and development throughout the observation period.

Conclusions:

  • Inherited TBG excess should be considered in the differential diagnosis of neonatal hyperthyroxinemia.
  • Elevated total T3 levels in conjunction with normal TSH are key indicators for suspecting TBG excess.