Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations.

CONCLUSIONS: We report the first cases of thyroid hypoplasia at diagnosis during 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 thyroids of normal or small size, and they broaden the clinical spectrum of described phenotypes. PMID: 29790453 [PubMed - as supplied by publisher]
Source: Thyroid : official journal of the American Thyroid Association - Category: Endocrinology Tags: Thyroid Source Type: research