Hypothyroidism due to TSH receptor mutations
Hypothyroidism due to TSH receptor mutations
Definition
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.
Also known as CHNG1, hypothyroidism, congenital, nongoitrous, type 1, TSH resistance — per MONDO