Resistance to thyroid hormone in a Turkish child with A317T mutation in the thyroid hormone receptor-beta gene
Resistance to thyroid hormone (RTH) syndrome is a rare disorder usually inherited as an autosomal dominant trait. The combination of elevated serum levels of free thyroid hormones with elevated thyroid-stimulating hormone (TSH) suggest differential diagnoses of RTH, thyroxine-binding globulin...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2008-12-01
|
| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/2493 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Summary: | Resistance to thyroid hormone (RTH) syndrome is a rare disorder usually inherited as an autosomal dominant trait. The combination of elevated serum levels of free thyroid hormones with elevated thyroid-stimulating hormone (TSH) suggest differential diagnoses of RTH, thyroxine-binding globulin abnormalities, familial dysalbuminemic hyperthyroxinemia and TSH-secreting pituitary tumors. We report a patient with RTH in a Turkish family. The diagnosis was confirmed by the identification of a known disease-causing mutation in the thyroid hormone receptor-beta (THRbeta) gene, but is the first published in the Turkish population. Genetic analysis of the mother and the patient yielded a mutation in the THRbeta gene, A317T, due to a base pair substitution of an adenine for a guanine.
|
|---|---|
| ISSN: | 0041-4301 2791-6421 |