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A mutation in thyroid hormone receptor beta causing "resistance to thyroid hormone" in a neonate
1Department of Pediatrics, Dr. Lütfi Kirdar Kartal Training and Research Hospital, Istanbul, Turkey. serdarcomert73@yahoo.com.tr
Minerva Pediatrica
|October 14, 2010
Summary
Resistance to thyroid hormone (RTH) is a genetic disorder affecting thyroid hormone action. A newborn diagnosed with RTH had a specific TRbeta gene mutation, highlighting the importance of genetic testing for early diagnosis.
Area of Science:
- Endocrinology
- Genetics
- Molecular Biology
Background:
- Resistance to thyroid hormone (RTH) is an inherited disorder impacting thyroid hormone sensitivity.
- Mutations in the thyroid hormone receptor beta (TRbeta) gene are the primary cause of RTH.
Observation:
- A male neonate presented with indirect hyperbilirubinemia, polycythemia, and ophthalmopathy.
- Elevated serum thyroxine (T₄) with unsuppressed thyroid-stimulating hormone (TSH) levels indicated potential RTH.
Findings:
- Genetic testing identified an A317T mutation in exon 9 of the TRb-1 gene.
- This mutation confirmed the diagnosis of RTH in the presented case.
Implications:
- Early suspicion of RTH in neonates with hyperthyroid symptoms and specific hormonal profiles is crucial.
- Genetic testing is essential for precise RTH diagnosis in infants.
- Understanding RTH mutations aids in managing thyroid hormone resistance syndromes.
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