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GTR Home > Conditions/Phenotypes > Thyroid hormone metabolism, abnormal, 2

Thyroid hormone metabolism, abnormal, 2

Summary

Abnormal thyroid hormone metabolism-2 (THMA2) is characterized by elevated serum reverse triiodothyronine (rT3) levels and rT3/T3 ratios. Some patients exhibit resistance to thyroid-stimulating hormone (TSH; see 188540) with mildly elevated TSH levels, and elevated cholesterol levels have been observed (Franca et al., 2021). For a discussion of genetic heterogeneity of abnormal thyroid hormone metabolism, see THMA1 (609698). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: 5DI, THMA2, TXDI1, DIO1
    Summary: iodothyronine deiodinase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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