Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha

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Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha

Synonyms: RTHa | Resistance to thyroid hormone alpha | Resistance to thyroid hormone due to a mutation in TRa

A rare primary congenital hypothyroidism characterized by a markedly reduced T4/T3 ratio normal levels of thyroid-stimulating hormone and a highly variable clinical phenotype which most commonly includes decreased metabolic rate bradycardia chronic constipation neurodevelopmental delay and delayed bone age and skeletal abnormalities. Dysmorphic craniofacial features such as macrocephaly broad face flat nose large tongue and thick lips have also been reported. Some patients may show only minimal signs and symptoms.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha?

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