Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis. The disease is MONDO_0010139 (isolated thyroid-stimulating hormone deficiency). Also known as: CHNG4, hypothyroidism, congenital, nongoitrous 4, hypothyroidism, congenital, nongoitrous, type 4, isolated TSH deficiency, isolated thyrotropin deficiency.