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Related Experiment Videos

Persistent infantile hypothyroidism attributable to thyroxine-binding globulin deficiency.

A L Carrel1, D B Allen

  • 1University of Wisconsin Children's Hospital, 600 Highland, Avenue, Madison, WI 53792, USA. alcarrel@facstaff.wisc.edu

Pediatrics
|August 3, 1999
PubMed
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Thyroid-binding globulin (TBG) deficiency can cause hypothyroidism, as seen in a unique infant case. Hormone replacement therapy normalized thyroid levels, highlighting the importance of monitoring TBG deficiency.

Area of Science:

  • Endocrinology
  • Pediatrics
  • Genetics

Background:

  • Newborn screening is crucial for identifying congenital disorders.
  • Thyroid-binding globulin (TBG) deficiency is a rare genetic condition affecting thyroid hormone transport.
  • Congenital hypothyroidism necessitates timely diagnosis and management to prevent developmental issues.

Observation:

  • An infant presented with elevated thyroid-stimulating hormone (TSH) and low free thyroxine (fT4) post-newborn screening.
  • This indicated persistent congenital hypothyroidism.
  • The infant was diagnosed with thyroid-binding globulin (TBG) deficiency.

Findings:

  • Thyroxine (T4) supplementation normalized fT4 and TSH levels in the first five years.
  • Discontinuation of T4 therapy led to recurrent hyperthyrotropinemic hypothyroidism.

Related Experiment Videos

  • This case is the first reported instance of hypothyroidism directly linked to TBG deficiency.

    • Implications:

    • TBG deficiency, though rare, can manifest as hypothyroidism requiring lifelong hormone management.
    • This case underscores the need for careful monitoring in individuals with TBG deficiency.
    • Early diagnosis and intervention are vital for managing thyroid disorders in infants.