congenital hypothyroidism, non-goitrous, type 6
congenital hypothyroidism, non-goitrous, type 6An extremely rare disease (OMIM:614450) characterised by growth retardation, developmental retardation, skeletal dysplasia, borderline low thyroxine levels and high triiodothyronine levels. The condition is remarkable for differential sensitivity to thyroid hormone: responsiveness is retained in the hypothalamic pituitary axis and liver, while skeletal, gastrointestinal and myocardial tissues show resistance to the hormone.
Caused by defects of THRA, which encodes high-affinity nuclear hormone receptor for triiodothyronine.
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