congenital hypothyroidism non-goitrous type 1 (CHNG1); congenital hypothyroidism due to TSH resistance
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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