Neonatal Dyshormonogenetic Goiter with Hypothyroidism Associated with Novel Mutations in Thyroglobulin and SLC26A4 Gene

• Main Authors: Valeria Calcaterra (Author), Rossella Lamberti (Author), Claudia Viggiano (Author), Sara Gatto (Author), Luigina Spaccini (Author), Gianluca Lista (Author), Gianvincenzo Zuccotti (Author)
• Format: Book
• Published: MDPI AG, 2021-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Congenital goiter is an uncommon cause of neck swelling and it can be associated with hypothyroidism. We discuss a case of primary hypothyroidism with goiter presenting at birth. Ultrasound showed the enlargement of the gland and thyroid function tests detected marked hypothyroidism. Genetic analysi...