20.500.12556/RUL-135059 Central TSH dysregulation in a patient with familial non-autoimmune autosomal dominant hyperthyroidism due to a novel thyroid-stimulating hormone receptor disease-causing variant Background and Objectives. Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare cause of childhood hyperthyroidism. It is caused by the thyroid-stimulating hormone receptor (TSHR) gene variants. So far, only around 40 families with FNAH have been reported. Patients with activating TSHR variants demonstrated the same classical signs and symptoms of hyperthyroidism as seen in patients with Graves’ disease. Since 2012, ablative therapy is recommended to avoid relapses of hyperthyroidism and its consequences. Case Presentation. We presented a young adult male patient with a novel heterozygous TSHR disease-causing variant p.Arg418Lys (c.1253G>A) in the exon 10, who presented with a mild but progressive FNAH, with a follow-up since infancy. Discussion. Constantly suppressed TSH, including during the euthyreosis in childhood and hypothyreosis after iodine ablation therapy, suggested central dysregulation of the TSH secretion. familial non-autoimmune autosomal dominant hyperthyroidism FNAH TSHR radioiodine ablation therapy central hypothyroidism true false true Angleški jezik Ni določen Članek v reviji 2022-02-18 15:39:45 2022-02-18 15:39:46 2022-09-14 04:11:26 0000-00-00 00:00:00 2021 0 0 8 str. iss. 3, art. 196 Vol. 57 2021 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616-053.2 1648-9144 10.3390/medicina57030196 53627907 RAZ_Suput_Jasna_2021.pdf RAZ_Suput_Jasna_2021.pdf 1 EDD7D73C69228C104A86A5B2524EA4BC 9213f8939618c587d0040b10cf80b78bb08cbd2103ec3833b4a0e34fe82a9d1a ddc9e591-90c8-11ec-abdb-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=153908 https://www.mdpi.com/1648-9144/57/3/196 0 a792c894-90c8-11ec-abdb-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=153907 Medicinska fakulteta 0 0 0