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Suput Omladic, Jasna; Pajek, Maja; Groselj, Urh; Trebusak Podkrajsek, Katarina; Avbelj Stefanija, Magdalena; Zerjav Tansek, Mojca; Kotnik, Primoz; Battelino, Tadej; Smigoc Schweiger, Darja
Medicina, 02/2021, Letnik: 57, Številka: 3Journal Article
. Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare cause of childhood hyperthyroidism. It is caused by the thyroid-stimulating hormone receptor ( ) gene variants. So far, only around 40 families with FNAH have been reported. Patients with activating 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. . We presented a young adult male patient with a novel heterozygous 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. . 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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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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in: SICRIS
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