Conditions / Endocrine

congenital nongoitrous hypothyroidism 1

info · Endocrine · ICD-10: E03.1

A congenital hypothyroidism that has_material_basis_in mutation in the TSHR gene on chromosome 14q31.

Signs and symptoms

  • Elevated circulating thyroid-stimulating hormone concentration
  • Thyroid hypoplasia
  • Hypothyroidism
  • Goiter

Also known as: CHNG1; TSH resistance