congenital hypothyroidism non-goitrous type 2 (CHNG2)

Epidemiology

• most frequent cause of congenital hypothyroidism
• accounts for 85% of cases

Pathology

• thyroid dysgenesis
• the thyroid gland can be completely absent (athyreosis), ectopically located &/or severely hypoplastic
• ectopic thyroid gland is the most frequent malformation, with thyroid tissue being found most often at the base of the tongue

Genetics

• associated with defects in PAX8

More general terms

• cretinism (congenital hypothyroidism)

Database

• OMIM: https://mirror.omim.org/entry/218700