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selective pituitary thyroid hormone resistance (PRTH); familial hyperthyroidism due to inappropriate thyrotropin secretion
variant form of thyroid hormone resistance
Pathology:
- apparently defect in T3 receptor beta gene is restricted to the pituitary
- result is loss of feedback inhibition of TSH secretion by anterior pituitary
Genetics:
- associated with defects in the T3 receptor beta gene
Clinical manifestations:
- clinical hyperthyroidism
Laboratory:
- elevated free T3 & free T4
- inappropriately normal serum TSH
Related
syndrome of thyroid hormone resistance; generalized thyroid hormone resistance; Refetoff syndrome
General
hyperthyroidism
Database Correlations
OMIM 145650
References
- GeneReviews
http://www.genetests.org/query?gene=THRB
- UniProt :accession P10828