Abstract
Resistance to thyroid hormones (RTH), an inherited syndrome of reduced tissue sensitivity to thyroid hormones is a well known although rare disorder and has not been reported in Iran so far.
Most of the reports concerning the genetic characteristics of the disorder belong to western countries and there are limited reports on thyroid hormone gene study on patients with RTH in Middle East region. Since 1986 we follow the first five patients belonging to a single family with RTH in Iran and reported their clinical pictures and also the effects of short- term treatment with graded dose of T3 on pituitary and peripheral tissue markers. Here we report the result of the gene study on this family.
DNA was extracted from peripheral white blood cells of the family in Tehran, Iran and transported to the Thyroid Study Unit at the University of Chicago. Sequencing of the TR beta gene disclosed a point mutation in ligand binding domain with substitution of Aspartic Acid instead of Glycine at position 345. Same mutation has been reported previously in limited number of patients with similar manifestations.
Conclusion:
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1, Glycine to Aspartic Acid substitution is associated with a rather sever form of RTH presenting with big goiter and neurologic manifestations,
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2, paucity of the reports on RTH in Asian and African countries are due to the lack of attention to this syndrome and we propose that the diagnosis of RTH should be kept in mind in differential diagnosis of patients who are presumed to be thyrotoxic.
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Mirsaeidghazi, A., Refetoff, S. 1105 Thyroid Hormone Resistance in An Iranian Family Presenting with Goiter and Neurologic Abnormalities: Report of the Mutation. Pediatr Res 68 (Suppl 1), 548 (2010). https://doi.org/10.1203/00006450-201011001-01105
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DOI: https://doi.org/10.1203/00006450-201011001-01105