An A627V-activating mutation in the thyroid-stimulating hormone receptor gene in familial non-autoimmune hyperthyroidism

• Main Authors: Jung Hyun Shin (Author), Go Hun Seo (Author), Seung Hwan Oh (Author), Woo Yeong Chung (Author), Hye Young Kim (Author), Young Mi Kim (Author), Mi Hye Bae (Author), Kyung Hee Park (Author), Min Jung Kwak (Author)
• Format: Book
• Published: Korean Society of Pediatric Endocrinology, 2020-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Nonautoimmune hyperthyroidism is a very rare cause of congenital hyperthyroidism that is usually caused by an activating mutation in the thyroid-stimulating hormone receptor (TSHR) gene. In this report, we describe a case of non-autoimmune hyperthyroidism in a patient with TSHR mutation. Our patient...