congenital hypothyroidism, non-goitrous, type 1
congenital hypothyroidism, non-goitrous, type 1A 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.
Caused by defects of TSHR, which encodes the protein receptor for thyrothropin and thyrostimulin.
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