Conditions / Endocrine
congenital nongoitrous hypothyroidism 2
info · Endocrine · ICD-10: E03.1
A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13.
Signs and symptoms
- Elevated circulating thyroid-stimulating hormone concentration
- Hypothyroidism
- Decreased circulating T4 concentration
- Thyroid hypoplasia
- Lethargy
- Elevated circulating thyroglobulin concentration
- Hypothermia
- Stridor
- Hypotonia
- Abdominal distention
Also known as: CHNG2; congenital hypothyroidism due to thyroid dysgenesis or hypoplasia