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Hypothyroidism due to TSH receptor mutations

rare

Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.

Identifiers
MONDO:0010142 OMIM:275200Orphanet:90673
Causal genes
TSHR
Part of
Hypothyroidism, congenital, nongoitrous
Also known as
CHNG1 · hypothyroidism, congenital, nongoitrous, 1 · hypothyroidism, congenital, nongoitrous, type 1 · TSH resistance

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