Scientific Programme & Abstracts from the International Meeting in Pediatric Endocrinology (IMPE)

impe0096p160 | Thyroid | IMPE2023

Severe Craneosynostosis in Non-Autoimmune Neonatal Hyperthyroidism, Suspected TSHR Activating Mutation, A Case Report.

Contreras Andy , Pino Consuelo , García Hernan , Loureiro Carolina , Castaño Luis

Introduction: Maternal Graves' disease (GD) is the most common cause of neonatal hyperthyroidism. Which by definition is transient and self-limited. There is also an infrequent cause of non-autoimmune persistent neonatal hyperthyroidism due to activating mutations in the TRH receptor (TSHR), both familial (FNAH) and sporadic (PSNAH), or to Protein G Mutation (Macune Albright Syndrome (GNAS). Neonatal screening for thyroid disease focuses on prevention of ...