Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations

Abstract

The first cases are reported of thyroid hypoplasia at diagnosis during the neonatal period in patients with CH and TPO mutations. These cases highlight the importance of screening for TPO mutations not only in goitrous CH, but also in normal or small-size thyroids, and they broaden the clinical spectrum of described phenotypes.