Blar i Bergen Open Research Archive på forfatter "Husebye, Eystein Sverre"

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    • Feminizing adrenal tumor identified by plasma steroid profiling 

      Vogt, Elinor Margrethe Chelsom; Hammerling, Katrin; Sorbye, Halfdan; Heie, Anette; Sulen, André; Ueland, Grethe Åstrøm; Husebye, Eystein Sverre; Methlie, Paal (Journal article; Peer reviewed, 2021)
      Feminizing estrogen-secreting adrenocortical carcinomas (ACCs) are exceedingly rare and carry a poor prognosis. The most common presenting trait is gynecomastia, but enlarged breasts are also a frequent clinical finding ...

    • Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia 

      Brønstad, Ingeborg; Breivik, Lars Ertesvåg; Methlie, Paal; Wolff, Anette Susanne Bøe; Bratland, Eirik; Nermoen, Ingrid; Løvås, Kristian; Husebye, Eystein Sverre (Peer reviewed; Journal article, 2014)
      In about 95% of cases, congenital adrenal hyperplasia (CAH) is caused by mutations in CYP21A2 gene encoding steroid 21-hydroxylase (21OH). Recently, we have reported four novel CYP21A2 variants in the Norwegian population ...

    • Genome-wide copy number variation (CNV) in patients with autoimmune Addison’s disease 

      Brønstad, Ingeborg; Wolff, Anette S. B.; Løvås, Kristian; Knappskog, Per; Husebye, Eystein Sverre (Peer reviewed; Journal article, 2011-08-18)
      Background: Addison’s disease (AD) is caused by an autoimmune destruction of the adrenal cortex. The pathogenesis is multi-factorial, involving genetic components and hitherto unknown environmental factors. The aim of the ...

    • GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility 

      Eriksson, Daniel; Røyrvik, Ellen Christine; Aranda-Guillen, Maribel; Berger, Amund Holte; Landegren, Nils; Artaza, Haydee; Hallgren, Åsa; Grytaas, Marianne; Strøm, Sara; Bratland, Eirik; Botusan, Ileana; Oftedal, Bergithe Eikeland; Breivik, Lars Ertesvåg; Vaudel, Marc; Helgeland, Øyvind; Falorni, Alberto; Jørgensen, Anders Palmstrøm; Hulting, Anna-Lena; Svartberg, Johan; Ekwall, Olov; Fougner, Kristian J; Wahlberg, Jeanette; Nedrebø, Bjørn Gunnar; Dahlqvist, Per; Study group, Norwegian Addison Registry; Study Group, Swedish Addison Registry; Knappskog, Per Morten; Wolff, Anette Susanne Bøe; Bensing, Sophie; Johansson, Stefan; Kämpe, Olof; Husebye, Eystein Sverre (Journal article; Peer reviewed, 2021)
      Autoimmune Addison’s disease (AAD) is characterized by the autoimmune destruction of the adrenal cortex. Low prevalence and complex inheritance have long hindered successful genetic studies. We here report the first ...

    • Hypomagnesemia and functional hypoparathyroidism due to novel mutations in the Mg-channel TRPM6 

      Astor, Marianne; Løvås, Kristian; Wolff, Anette Susanne Bøe; Nedrebø, Bjørn Gunnar; Bratland, Eirik; Steen-Johnsen, Jon; Husebye, Eystein Sverre (Peer reviewed; Journal article, 2015)
      Primary hypomagnesemia with secondary hypocalcemia (HSH) is an autosomal recessive disorder characterized by neuromuscular symptoms in infancy due to extremely low levels of serum magnesium and moderate to severe hypocalcemia. ...

    • A longitudinal follow-up of autoimmune polyendocrine syndrome type 1 

      Bruserud, Øyvind; Oftedal, Bergithe Eikeland; Landegren, Nils; Erichsen, Martina Moter; Bratland, Eirik; Lima, Kari; Jørgensen, Anders Palmstrøm; Myhre, Anne Grethe; Svartberg, Johan; Fougner, Kristian J; Bakke, Åsne; Nedrebø, Bjørn Gunnar; Mella, Bjarne; Breivik, Lars Ertesvåg; Viken, Marte K; Knappskog, Per; Cuida Marthinussen, Ileana Mihaela; Løvås, Kristian; Kämpe, Olle; Wolff, Anette Susanne Bøe; Husebye, Eystein Sverre (Peer reviewed; Journal article, 2016-08)
      Context: Autoimmune polyendocrine syndrome type 1 (APS1) is a childhood-onset monogenic disease defined by the presence of two of the three major components: hypoparathyroidism, primary adrenocortical insufficiency, and ...

    • The natural history of 21-hydroxylase autoantibodies in autoimmune Addison’s disease 

      Wolff, Anette Susanne Bøe; Breivik, Lars Ertesvåg; Hufthammer, Karl Ove; Grytaas, Marianne; Bratland, Eirik; Husebye, Eystein Sverre; Oftedal, Bergithe Eikeland (Journal article; Peer reviewed, 2021)
      Background: The most common cause of primary adrenal failure (Addison’s disease) in the Western world is autoimmunity characterized by autoantibodies against the steroidogenic enzyme 21-hydroxylase (CYP21A2, 21OH). Detection ...

    • Novel inflammatory biomarkers in thyroid eye disease 

      Ueland, Hans Olav; Ueland, Grethe Åstrøm; Løvås, Kristian; Breivik, Lars Ertesvåg; Thrane, Alexander Stanley; Stokland, Ann-Elin Meling; Rødahl, Eyvind; Husebye, Eystein Sverre (Journal article; Peer reviewed, 2022)
      Purpose: The aim of this study is to identify biochemical inflammatory markers predicting the presence or risk of developing thyroid eye disease (TED) in patients with Graves' disease (GD). Methods: Patients with GD ...

    • Oral microbiota in autoimmune polyendocrine syndrome type 1 

      Bruserud, Øyvind; Siddiqui, Huma; Marthinussen, Michaela Cuida; Chen, Tsute; Jonsson, Roland; Oftedal, Bergithe Eikeland; Olsen, Ingar; Husebye, Eystein Sverre; Wolff, Anette Bøe (Peer reviewed; Journal article, 2018)
      Background: Autoimmune polyendocrine syndrome type-1 (APS-1) is a rare, childhood onset disease caused by mutations in the Autoimmune Regulator gene. The phenotypic expression is highly variable and includes disease ...

    • Peripheral blood cells from patients with autoimmune Addison's disease poorly respond to interferons in vitro, despite elevated serum levels of interferon-inducible chemokines 

      Edvardsen, Kine Susann Waade; Bjånesøy, Trine Elholm; Hellesen, Alexander; Breivik, Lars Ertesvåg; Bakke, Marit; Husebye, Eystein Sverre; Bratland, Eirik (Peer reviewed; Journal article, 2015-05-15)
      Autoimmune Addison's disease (AAD) is a disorder caused by an immunological attack on the adrenal cortex. The interferon (IFN)-inducible chemokine CXCL10 is elevated in serum of AAD patients, suggesting a peripheral IFN ...

    • Plasma-Metanephrines in Patients with Autoimmune Addison’s Disease with and without Residual Adrenocortical Function 

      Åkerman, Anna-Karin; Sævik, Åse Bjorvatn; Thorsby, Per Medbøe; Methlie, Paal; Quinkler, Marcus; Jørgensen, Anders Palmstrøm; Höybye, Charlotte; Debowska, Aleksandra; Nedrebø, Bjørn Gunnar; Dahle, Anne Lise; Carlsen, Siri; Tomkowicz, Aneta; Sollid, Stina Therese; Nermoen, Ingrid; Grønning, Kaja; Dahlqvist, Per; Grimnes, Guri; Skov, Jakob; Finnes, Trine Elisabeth; Wahlberg, Jeanette; Holte, Synnøve Emblem; Simunkova, Katerina; Kämpe, Olle; Husebye, Eystein Sverre; Øksnes, Marianne; Bensing, Sophie (Journal article; Peer reviewed, 2023-05-22)
      Purpose: Residual adrenocortical function, RAF, has recently been demonstrated in one-third of patients with autoimmune Addison’s disease (AAD). Here, we set out to explore any influence of RAF on the levels of plasma ...

    • A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies 

      Aranda-Guillén, Maribel; Røyrvik, Ellen Christine; Fletcher-Sandersjöö, Sara; Artaza Alvarez, Haydee Maribel; Botusan, Ileana Ruxandra; Grytaas, Marianne Aardal; Hallgren, Åsa; Breivik, Lars Ertesvåg; Pettersson, Maria; Jørgensen, Anders Palmstrøm; Lindstrand, Anna; Vogt, Elinor Margrethe; Husebye, Eystein Sverre; Kämpe, Olle; Wolff, Anette Susanne Bøe; Bensing, Sophie; Johansson, Stefan; Eriksson, Daniel (Journal article; Peer reviewed, 2023)
      Background Autoimmune Addison's disease (AAD) is the most common cause of primary adrenal insufficiency (PAI). Despite its exceptionally high heritability, tools to estimate disease susceptibility in individual patients ...

    • Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1 

      Bastard, Paul; Orlova, Elizaveta; Sozaeva, Leila S.; Lévy, Romain; James, Alyssa; Schmitt, Monica M; Ochoa, Sebastian; Kareva, Maria; Rodina, Yulia; Gervais, Adrian; Le Voyer, Tom; Rosain, Jérémie; Philippot, Quentin; Neehus, Anna-Lena; Shaw, Elana; Migaud, Mélanie; Bizien, Lucy; Ekwall, Olov; Berg, Stefan; Beccuti, Guglielmo; Ghizzoni, Lucia; Thiriez, Gerard; Pavot, Arthur; Goujard, Cecile; Fremond, Marie-Louise; Carter, Edwin; Rothenbuhler, Anya; Linglart, Agnès; Mignot, Brigite; Comte, Aurelie; Cheikh, Nathalie; Hermine, Olivier; Breivik, Lars Ertesvåg; Husebye, Eystein Sverre; Humbert, Sebastien; Rohrlich, Pierre; Coaquette, Alain; Vuoto, Fanny; Faure, Karine; Mahlaoui, Nizar; Kotnik, Primoz; Battelino, Tadej; Podkrajšek, Katarina Trebušak; Kisand, Kai; Ferre, Elise M.N.; DiMaggio, Thomas; Rosen, Lindsey B.; Burbelo, Peter D.; McIntyre, Martin; Casanova, Jean-Laurent; Lionakis, Michail (Journal article; Peer reviewed, 2021)
      Patients with biallelic loss-of-function variants of AIRE suffer from autoimmune polyendocrine syndrome type-1 (APS-1) and produce a broad range of autoantibodies (auto-Abs), including circulating auto-Abs neutralizing ...

    • Pregnancy Outcome in Women With APECED (APS-1): A Multicenter Study on 43 Females With 83 Pregnancies 

      Laakso, Saila; Hopolainen, Elina; Betterle, Corrado; Saari, Viivi; Vogt, Elinor Margrethe Chelsom; Schmitt, Monica M; Winer, Karen K.; Kareva, Maria A.; Sabbadin, Chiara; Husebye, Eystein Sverre; Orlova, Elizaveta; Lionakis, Michail; Makitie, Outi (Journal article; Peer reviewed, 2022)
      Context Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED; also known as autoimmune polyendocrine syndrome type 1) has a severe, unpredictable course. Autoimmunity and disease components may affect ...

    • Premature menopause and autoimmune primary ovarian insufficiency in two international multi-center cohorts 

      Vogt, Elinor Margrethe Chelsom; Real, Francisco Gomez; Husebye, Eystein Sverre; Björnsdottir, Sigridur; Benediktsdottir, Bryndis; Bertelsen, Randi Jacobsen; Demoly, Pascal; Franklin, Karl Anders; Gallastegui, Leire Sainz de Aja; González, Francisco Javier Callejas; Heinrich, Joachim; Holm, Mathias; Jögi, Nils Oskar; Leynaert, Benedicte; Lindberg, Eva; Malinovschi, Andrei; Martínez-Moratalla, Jesús; Mayoral, Raúl Godoy; Oudin, Anna; Pereira-Vega, Antonio; Semjen, Chantal Raherison; Schlünssen, Vivi; Triebner, Kai Philipp; Øksnes, Marianne (Journal article; Peer reviewed, 2022)
      Objective: To investigate markers of premature menopause (<40 years) and specifically the prevalence of autoimmune primary ovarian insufficiency (POI) in European women. Design: Postmenopausal women were categorized ...

    • Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe 

      Nowotny, Hanna; Neumann, Uta; Tardy-Guidollet, Veronique; Faisal Ahmed, Ahmed; Baronio, Federico; Battelino, Tadej; Bertherat, Jerome; Blankenstein, Oliver; Bonomi, Marco; Bouvattier, Claire; De la Perrière, Aude Brac; Brucker, Sara; Cappa, Marco; Chanson, Philippe; Van der Grinten, Hedi L. Claahsen; Colao, Annamaria; Cools, Martine; Davies, Justin H.; Dorr, Helmut-Gunther; Fenske, Wiebke K.; Ghigo, Ezio; Giordano, Roberta; Gravholt, Claus H.; Huebner, Angela; Husebye, Eystein Sverre; Igbokwe, Rebecca; Juul, Anders; Kiefer, Florian W.; Leger, Juliane; Menassa, Rita; Meyer, Gesine; Neocleous, Vassos; Phylactou, Leonidas A.; Rohayem, Julia; Russo, Gianni; Scaroni, Carla; Touraine, Philippe; Unger, Nicole; Vojtkova, Jarmila; Yeste, Diego; Lajic, Svetlana; Reisch, Nicole (Journal article; Peer reviewed, 2022)
      Objective: To assess the current medical practice in Europe regarding prenatal dexamethasone (Pdex) treatment of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Design and methods: A questionnaire ...

    • Prevalence, Risk Factors, and Clinical and Biochemical Characteristics of Alemtuzumab-Induced Graves Disease 

      Ueland, Grethe Åstrøm; Ueland, Hans Olav; Stokland, Ann-Elin Meling; Bhan, Alok; Schønberg, Anne; Sollid, Stina Therese; Morgas, Dina Edvarda; Holmøy, Trygve; Lima, Kari; Methlie, Paal; Løvås, Kristian; Torkildsen, Øivind; Husebye, Eystein Sverre (Journal article; Peer reviewed, 2024)
      Objective Atypical Graves disease (GD) is a common complication in multiple sclerosis (MS) patients treated with alemtuzumab. We present epidemiological, clinical, and biochemical characteristics of alemtuzumab-induced ...

    • Primary adrenal lymphoma as a cause of adrenal insufficiency, a report of two cases 

      Grønning, Kaja; Sharma, Archana; Mastroianni, Maria Adele; Karlsson, Bo Daniel; Husebye, Eystein Sverre; Løvås, Kristian; Nermoen, Ingrid (Journal article; Peer reviewed, 2020-03)
      Primary adrenal lymphoma (PAL) is a rare cause of adrenal insufficiency. More than 90% is of B-cell origin. The condition is bilateral in up to 75% of cases, with adrenal insufficiency in two of three patients. We report ...

    • Primary ovarian insufficiency in women with Addison's disease 

      Vogt, Elinor Margrethe Chelsom; Breivik, Lars Ertesvåg; Røyrvik, Ellen Christine; Grytaas, Marianne; Husebye, Eystein Sverre; Øksnes, Marianne (Journal article; Peer reviewed, 2021)
      Context: Primary ovarian insufficiency (POI) is defined by menopause before 40 years of age. POI prevalence is higher among women with autoimmune Addison’s disease (AAD) than in the general population, but their clinical ...

    • Quality of Life in European Patients with Addison’s Disease: Validity of the Disease-Specific Questionnaire AddiQoL 

      Øksnes, Marianne; Bensing, Sophie; Hulting, Anna-Lena; Kämpe, Olle; Hackemann, Annika; Meyer, Gesine; Badenhoop, Klaus; Betterle, Corrado; Parolo, Anna; Giordano, Roberta; Falorni, Alberto; Papierska, Lucyna; Jeske, Wojciech; Kasperlik-Zaluska, Anna A.; Chatterjee, V. Krishna K.; Husebye, Eystein Sverre; Løvås, Kristian (Peer reviewed; Journal article, 2012-02)
      Context: Patients with Addison’s disease (AD) self-report impairment in specific dimensions on well-being questionnaires. An AD-specific quality-of-life questionnaire (AddiQoL) was developed to aid evaluation of patients. ...