Central TSH dysregulation in a patient with familial non-autoimmune autosomal dominant hyperthyroidism due to a novel thyroid-stimulating hormone receptor disease-causing variant

Šuput Omladič, Jasna (avtor), Pajek, Maja (avtor), Grošelj, Urh (avtor), Trebušak Podkrajšek, Katarina (avtor), Avbelj Stefanija, Magdalena (avtor), Žerjav-Tanšek, Mojca (avtor), Kotnik, Primož (avtor), Battelino, Tadej (avtor), Šmigoc Schweiger, Darja (avtor)

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.

• Jezik: Angleški jezik
• Ključne besede: familial non-autoimmune autosomal dominant hyperthyroidism, FNAH, TSHR, radioiodine ablation therapy, central hypothyroidism
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.01 - Izvirni znanstveni članek
• Organizacija: MF - Medicinska fakulteta
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Leto izida: 2021
• Št. strani: 8 str.
• Številčenje: Vol. 57, iss. 3, art. 196
• PID: 20.500.12556/RUL-135059
• UDK: 616-053.2
• ISSN pri članku: 1648-9144
• DOI: 10.3390/medicina57030196
• COBISS.SI-ID: 53627907
• Datum objave v RUL: 18.02.2022

Gradivo je del revije

• Naslov: Medicina
• Založnik: MDPI
• ISSN: 1648-9144
• COBISS.SI-ID: 6754623

Licence

• Licenca: CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by/4.0/deed.sl
• Opis: To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.
• Začetek licenciranja: 01.03.2021

Projekti

• Financer: ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
• Številka projekta: P3-0343
• Naslov: Etiologija, zgodnje odkrivanje in zdravljenje bolezni pri otrocih in mladostnikih