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. The disease is hypothyroidism due to TSH receptor mutations (Monarch Disease Ontology identifier MONDO_0010142). Also known as: CHNG1, TSH resistance, hypothyroidism, congenital, nongoitrous, type 1.