hrp0098fc12.1 | Thyroid | ESPE2024

Use of targeted Next-Generation Sequencing panel in patients with non-autoimmune hypothyroidism: the experience of an Italian Pediatric Endocrinology Center

Bortolamedi Elisa , Di Natale Valeria , Ortolano Rita , Montanari Giulia , Menabò Soara , Baronio Federico , Cassio Alessandra

Non-autoimmune hypothyroidism is characterized by high serum TSH level, normal or low thyroid hormones, absence of autoantibodies and normal or hypoplasic in situ thyroid gland. It is known that heterozygous mutations in the TSH receptor gene (TSHR) are associated with partial TSH resistance which clinically ranges from isolated hyperthyrotropinemia to non-autoimmune hypothyroidism. Despite this, an absence of mutations in the TSHR gene has been repo...