Conditions / Endocrine
congenital nongoitrous hypothyroidism 8
info · Endocrine
A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has_material_basis_in heterozygous or hemizygous mutation in the TBL1X gene on chromosome Xp22.3-p22.2.
Signs and symptoms
- Hypercholesterolemia
- Inappropriately normal thyroid-stimulating hormone level
- Secondary amenorrhea
- Macrocephaly
- Constipation
- Attention deficit hyperactivity disorder
- Central hypothyroidism
- Diminished ability to concentrate
- Decreased circulating free T4 concentration
Also known as: CHNG8