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

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

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...

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Bibliographic Details
Main Authors: Valeria Calcaterra, Rossella Lamberti, Claudia Viggiano, Sara Gatto, Luigina Spaccini, Gianluca Lista, Gianvincenzo Zuccotti
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:Pediatric Reports
Subjects:
congenital goiter
primary congenital hypothyroidism
thyroid dyshormonogenesis
newborn
Online Access:https://www.mdpi.com/2036-7503/13/2/29

Internet

https://www.mdpi.com/2036-7503/13/2/29

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