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Case Report

Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant

1
Department of Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, University Medical Centre Ljubljana, Bohoričeva 20, 1000 Ljubljana, Slovenia
2
Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia
3
Department of Paediatric Surgery and Intensive Care, University Medical Centre Ljubljana, Bohoričeva 20, 1000 Ljubljana, Slovenia
4
Clinical Institute for Special Laboratory Diagnostics, University Children’s Hospital, University Medical Centre Ljubljana, Vrazov trg 1, 1000 Ljubljana, Slovenia
*
Author to whom correspondence should be addressed.
Academic Editor: Spyridoula Maraka
Received: 30 December 2020 / Revised: 17 February 2021 / Accepted: 18 February 2021 / Published: 25 February 2021
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. View Full-Text
Keywords: familial non-autoimmune autosomal dominant hyperthyroidism; FNAH; TSHR; radioiodine ablation therapy; central hypothyroidism familial non-autoimmune autosomal dominant hyperthyroidism; FNAH; TSHR; radioiodine ablation therapy; central hypothyroidism
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MDPI and ACS Style

Suput Omladic, J.; Pajek, M.; Groselj, U.; Trebusak Podkrajsek, K.; Avbelj Stefanija, M.; Zerjav Tansek, M.; Kotnik, P.; Battelino, T.; Smigoc Schweiger, D. Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant. Medicina 2021, 57, 196. https://0-doi-org.brum.beds.ac.uk/10.3390/medicina57030196

AMA Style

Suput Omladic J, Pajek M, Groselj U, Trebusak Podkrajsek K, Avbelj Stefanija M, Zerjav Tansek M, Kotnik P, Battelino T, Smigoc Schweiger D. Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant. Medicina. 2021; 57(3):196. https://0-doi-org.brum.beds.ac.uk/10.3390/medicina57030196

Chicago/Turabian Style

Suput Omladic, Jasna, Maja Pajek, Urh Groselj, Katarina Trebusak Podkrajsek, Magdalena Avbelj Stefanija, Mojca Zerjav Tansek, Primoz Kotnik, Tadej Battelino, and Darja Smigoc Schweiger. 2021. "Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant" Medicina 57, no. 3: 196. https://0-doi-org.brum.beds.ac.uk/10.3390/medicina57030196

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