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Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant.
Suput Omladic, Jasna; Pajek, Maja; Groselj, Urh; Trebusak Podkrajsek, Katarina; Avbelj Stefanija, Magdalena; Zerjav Tansek, Mojca; Kotnik, Primoz; Battelino, Tadej; Smigoc Schweiger, Darja.
Afiliación
  • Suput Omladic J; Department of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Bohoriceva 20, 1000 Ljubljana, Slovenia.
  • Pajek M; Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia.
  • Groselj U; Department of Paediatric Surgery and Intensive Care, University Medical Centre Ljubljana, Bohoriceva 20, 1000 Ljubljana, Slovenia.
  • Trebusak Podkrajsek K; Department of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Bohoriceva 20, 1000 Ljubljana, Slovenia.
  • Avbelj Stefanija M; Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia.
  • Zerjav Tansek M; Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia.
  • Kotnik P; Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Vrazov trg 1, 1000 Ljubljana, Slovenia.
  • Battelino T; Department of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Bohoriceva 20, 1000 Ljubljana, Slovenia.
  • Smigoc Schweiger D; Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia.
Medicina (Kaunas) ; 57(3)2021 Feb 25.
Article en En | MEDLINE | ID: mdl-33669123
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Graves / Hipertiroidismo Límite: Humans / Male Idioma: En Revista: Medicina (Kaunas) Asunto de la revista: MEDICINA Año: 2021 Tipo del documento: Article País de afiliación: Eslovenia Pais de publicación: Suiza
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Graves / Hipertiroidismo Límite: Humans / Male Idioma: En Revista: Medicina (Kaunas) Asunto de la revista: MEDICINA Año: 2021 Tipo del documento: Article País de afiliación: Eslovenia Pais de publicación: Suiza