congenital nongoitrous hypothyroidism 4

A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13.

Signs and symptoms

• Decreased circulating T4 concentration
• Decreased thyroid-stimulating hormone level
• Hypothyroidism
• Wide anterior fontanel
• Depressed nasal bridge
• Hoarse cry
• Macroglossia
• Hypotonia
• Severe intellectual disability
• Umbilical hernia

Also known as: CHNG4; isolated thyrotropin deficiency