Case of a Young Girl with Resistance to Thyroid Hormone
Author Information
Author(s): Karina T Canadas, Scott A Rivkees, Robert Udelsman, Christopher K Breuer
Primary Institution: Yale Pediatric Thyroid Center, Yale-New Haven Children's Hospital
Hypothesis
A novel mutation in the thyroid β receptor gene causes resistance to thyroid hormone in a four-year-old girl.
Conclusion
The case highlights a novel mutation leading to severe symptoms of thyroid hormone resistance, successfully treated with total thyroidectomy.
Supporting Evidence
- The patient exhibited extreme signs and symptoms of resistance to thyroid hormone at an early age.
- Following total thyroidectomy, upper airway compression was relieved and symptoms of hyperthyroidism improved.
- The genetic analysis revealed a novel mutation, E445X, in the thyroid receptor-β gene.
Takeaway
A four-year-old girl had a rare condition where her body didn't respond to thyroid hormone due to a new gene mutation, and surgery helped her feel better.
Methodology
The patient underwent genetic analysis, ultrasonography, and total thyroidectomy, followed by postoperative management with triiodothyronine therapy.
Limitations
The study is based on a single case report, limiting generalizability.
Participant Demographics
A four-year-old female with no family history of resistance to thyroid hormone.
Digital Object Identifier (DOI)
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