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congenital hypothyroidism non-goitrous type 1 (CHNG1); congenital hypothyroidism due to TSH resistance
Pathology:
- non-autoimmune condition
- resistance to thyroid-stimulating hormone (TSH)
Genetics:
- associated with defects in TSHR
Clinical manifestations:
- presents variable severity depending on the completeness of the defect in TSHR
- most patients are euthyroid & asymptomatic, with a normal sized thyroid gland
- only a subset of patients develop hypothyroidism & present a hypoplastic thyroid gland
Laboratory:
- increased serum TSH
- low serum T4
General
cretinism (congenital hypothyroidism)
genetic disease of the endocrine system
Database Correlations
OMIM 275200
References
UniProt :accession P16473