congenital nongoitrous hypothyroidism 3

A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in heterozygous mutation in a thyroid-specific TTTG(4) intergenic noncoding short tandem repeat (STR) on chromosome 15q25.1.

Signs and symptoms

• Elevated circulating thyroglobulin concentration
• Hypothyroidism
• Elevated circulating thyroid-stimulating hormone concentration
• Multinodular goiter

Also known as: CHNG3