Ann Pediatr Endocrinol Metab.  2024 Feb;29(1):67-69. 10.6065/apem.2346056.028.

Resistance to thyroid hormone and nonfunctioning pituitary microadenoma in a 13-year-old boy with THRB mutation

Affiliations
  • 1Department of Pediatrics, Sungae General Hospital, Seoul, Korea
  • 2Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
  • 3GC Genome, Yongin, Korea


Figure

  • Fig. 1. Chromatogram of the heterozygous mutation, c.1021C>G, (pLeu341Val), in the THRB gene of the proband, his mother, and elder sister. This mutation was not detected in the father or brother.

  • Fig. 2. Serial changes in clinical symptoms with thyroid hormone and medication use. TSH, thyroid stimulating hormone; fT4, free T4.


Reference

References

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