congenital nongoitrous hypothyroidism 9

info · Endocrine

A congenital hypothyroidism characterized by a small thyroid gland with low free T4 levels and inappropriately normal levels of thyroid-stimulating hormone that has_material_basis_in hemizygous mutation in the IRS4 gene on chromosome Xq22.3.

Signs and symptoms

Thyroid hypoplasia
Short stature
Inappropriately normal thyroid-stimulating hormone level
Decreased circulating free T4 concentration
Central hypothyroidism

Also known as: CHNG9