Central TSH dysregulation in a patient with familial non-autoimmune autosomal dominant hyperthyroidism due to a novel thyroid-stimulating hormone receptor disease-causing variant
ID Šuput Omladič, Jasna (Author), ID Pajek, Maja (Author), ID Grošelj, Urh (Author), ID Trebušak Podkrajšek, Katarina (Author), ID Avbelj Stefanija, Magdalena (Author), ID Žerjav-Tanšek, Mojca (Author), ID Kotnik, Primož (Author), ID Battelino, Tadej (Author), ID Šmigoc Schweiger, Darja (Author)

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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.

Keywords:familial non-autoimmune autosomal dominant hyperthyroidism, FNAH, TSHR, radioiodine ablation therapy, central hypothyroidism
Work type:Article
Typology:1.01 - Original Scientific Article
Organization:MF - Faculty of Medicine
Publication status:Published
Publication version:Version of Record
Number of pages:8 str.
Numbering:Vol. 57, iss. 3, art. 196
PID:20.500.12556/RUL-135059 This link opens in a new window
ISSN on article:1648-9144
DOI:10.3390/medicina57030196 This link opens in a new window
COBISS.SI-ID:53627907 This link opens in a new window
Publication date in RUL:18.02.2022
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COBISS.SI-ID:6754623 This link opens in a new window


License:CC BY 4.0, Creative Commons Attribution 4.0 International
Description:This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.
Licensing start date:01.03.2021


Funder:ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
Project number:P3-0343
Name:Etiologija, zgodnje odkrivanje in zdravljenje bolezni pri otrocih in mladostnikih

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