Hypothyroidism due to TSH receptor mutations

MONDO:0010142

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, TSH resistance, hypothyroidism, congenital, nongoitrous, type 1, congenital nongoitrous hypothyroidism 1, hypothyroidism due to unresponsiveness to thyrotropin, hypothyroidism, Nonautoimmune, hypothyroidism, congenital, due to TSH resistance, hypothyroidism, congenital, nongoitrous, 1

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