• Jasna Suput Omladic, Maja Pajek, Urh Groselj, Katarina Trebusak Podkrajsek, Avbelj Stefanija Magdalena M 0000-0002-0836-5114 Department of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, Univers, Mojca Zerjav Tansek, Primoz Kotnik, Tadej Battelino, and Darja Smigoc Schweiger.
• Department of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Bohoričeva 20, 1000 Ljubljana, Slovenia.
• Medicina (Kaunas). 2021 Feb 25; 57 (3).

AbstractBackground 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.

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