congenital hypothyroidism, non-goitrous, type 1

(redirected from CHNG1)

congenital hypothyroidism, non-goitrous, type 1

A non-autoimmune condition (OMIM:275200) characterised by resistance to TSH, leading to increased plasma TSH and reduced thyroid hormone. CHNG1 presents with a range of severity: most patients are euthyroid and asymptomatic, with a thyroid gland of normal size, while a subset of patients develop hypothyroidism and have a hypoplastic thyroid gland.

Molecular pathology
Caused by defects of TSHR, which encodes the protein receptor for thyrothropin and thyrostimulin.