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Gemma White Department of Diabetes and Endocrinology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK

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Anand Velusamy Department of Diabetes and Endocrinology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK

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Samantha Anandappa Department of Diabetes and Endocrinology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK

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Michael Masucci Department of Diabetes and Endocrinology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK

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Louise A Breen Department of Diabetes and Endocrinology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK

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Mamta Joshi Department of Diabetes and Endocrinology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK

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Barbara McGowan Department of Diabetes and Endocrinology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK
Faculty of Life Sciences and Medicine, King’s College London, London, UK

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Johnathan G H Hubbard Department of Endocrine Surgery, Guy’s and St Thomas’ NHS Foundation Trust, London, UK

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Rupert Obholzer Department of Ear, Nose and Throat Surgery, Guy’s and St Thomas’ NHS Foundation Trust, London, UK

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Dimitra Christodoulou Department of Radiology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK

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Audrey Jacques Department of Radiology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK

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Philip Touska Department of Radiology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK

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Fahim-Ul Hassan Department of Nuclear Medicine, Guy’s and St Thomas’ NHS Foundation Trust, London, UK

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Louise Izatt Department of Clinical Genetics, Guy’s and St Thomas’ NHS Foundation Trust, London, UK

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Paul V Carroll Department of Diabetes and Endocrinology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK
Faculty of Life Sciences and Medicine, King’s College London, London, UK

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Endocrine Society ( 13 ) and Tufton et al . ( 6 ) advocate minimising radiation by using MRI as the initial screening tool. The recommended frequency of imaging also varies, ranging from every 1 to 5 years ( 6 , 14 , 16 , 17 ). An international consensus

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Marianna Viukari Endocrinology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland

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Helena Leijon Department of Pathology, University of Helsinki and HUS Diagnostic Center, Helsinki University Hospital, Helsinki, Finland

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Tiina Vesterinen Department of Pathology, University of Helsinki and HUS Diagnostic Center, Helsinki University Hospital, Helsinki, Finland

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Sanni Söderlund Endocrinology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland

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Päivi Hämäläinen Department of Internal Medicine, Tampere University Hospital, Tampere, Finland

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Iina Yliaska Medical Research Center Oulu, Oulu University Hospital and Research Unit of Internal Medicine, University of Oulu, Oulu, Finland

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Päivi Rautiainen Joint Municipal Authority for North Karelia Social and Health Services (Siun Sote), Joensuu, Finland

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Reeta Rintamäki Department of Endocrinology and Clinical Nutrition, Kuopio University Hospital, Kuopio, Finland

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Minna Soinio Department of Endocrinology, Turku University Hospital, Turku, Finland

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Ilkka Pörsti Department of Internal Medicine, Tampere University Hospital, Tampere, Finland
Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland

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Pasi I Nevalainen Department of Internal Medicine, Tampere University Hospital, Tampere, Finland

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Niina Matikainen Endocrinology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland

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. Anatomical imaging of the adrenals Radiology reports for adrenal CT and MRI performed according to local protocols were collected. Adrenal venous sampling All AVS studies were performed in Tampere University Hospital. Stimulated AVS was routinely

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Paola Parra Ramírez Endocrinology & Nutrition Department, La Paz University Hospital, Madrid, Spain

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Patricia Martín Rojas-Marcos Endocrinology & Nutrition Department, La Paz University Hospital, Madrid, Spain

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Miguel Paja Fano Endocrinology & Nutrition Department, Hospital Universitario de Basurto, Bilbao, Spain
Medicine Department, Basque Country University, Bilbao, Spain

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Marga González Boillos Endocrinology & Nutrition Department, Hospital Universitario de Castellón, Castellón, Spain

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Eider Pascual-Corrales Endocrinology & Nutrition Department, Hospital Universitario Ramón y Cajal, Madrid, Spain
Instituto de Investigación Biomédica Ramón y Cajal (IRYCIS), Madrid, Spain

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Ana García-Cano Biochemistry Department, Hospital Universitario Ramón y Cajal, Madrid, Spain

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Jorge Gabriel Ruiz-Sanchez Endocrinology & Nutrition Department, Hospital Fundación Jiménez Díaz, Madrid, Spain

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Almudena Vicente Endocrinology & Nutrition Department, Complejo Universitario de Toledo, Toledo, Spain

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Emilia Gómez-Hoyos Endocrinology & Nutrition Department, Hospital Clínico Universitario de Valladolid, Valladolid, Spain

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Rui Ferreira Endocrinology & Nutrition Department, Hospital Universitario de La Princesa, Madrid, Spain

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Iñigo García Sanz General & Digestive Surgery Department, Hospital Universitario de La Princesa, Madrid, Spain

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Mònica Recasens Endocrinology & Nutrition Department, Hospital Josep Trueta, Servei d’Endocrinologia, Girona, Spain

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Begoña Pla Peris Endocrinology & Nutrition Department, Hospital Universitario de Castellón, Castellón, Spain

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Rebeca Barahona San Millan Endocrinology & Nutrition Department, Hospital Josep Trueta, Servei d’Endocrinologia, Girona, Spain

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María José Picón César Endocrinology & Nutrition Department, Complejo Hospitalario Málaga (Hospital Virgen de la Victoria), IBIMA Malaga, Malaga, Spain
CIBEROBN, Madrid, Spain

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Patricia Díaz Guardiola Endocrinology & Nutrition Department, Hospital Universitario Infanta Sofía, Madrid, Spain

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Juan Jesús García González Endocrinology & Nutrition Department, Hospital Universitario Virgen de la Macarena, Sevilla, Spain

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Carolina Perdomo Endocrinology & Nutrition Department, Clínica Universidad de Navarra, Pamplona, Spain

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Laura Manjón Endocrinology & Nutrition Department, Hospital Universitario Central de Asturias, Oviedo, Spain
Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain

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Rogelio García-Centeno Endocrinology & Nutrition Department, Hospital General Universitario Gregorio Marañón, Madrid, Spain

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Juan Carlos Percovich Endocrinology & Nutrition Department, Hospital General Universitario Gregorio Marañón, Madrid, Spain

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Ángel Rebollo Román Endocrinology & Nutrition Department, Hospital Reina Sofía, Córdoba, Spain

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Paola Gracia Gimeno Endocrinology & Nutrition Department, Hospital Royo Villanova, Zaragoza, Spain

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Cristina Robles Lázaro Endocrinology & Nutrition Department, Hospital Universitario de Salamanca, Salamanca, Spain

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Manuel Morales Biochemistry and Molecular Genetics Department-CDB, Hospital Clinic, IDIBAPS, CIBERehd, Barcelona, Spain

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Felicia Hanzu Endocrinology & Nutrition Department, Hospital Clinic, Barcelona, Spain

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Marta Araujo-Castro Endocrinology & Nutrition Department, Hospital Universitario Ramón y Cajal, Madrid, Spain
Instituto de Investigación Biomédica Ramón y Cajal (IRYCIS), Madrid, Spain
University of Alcalá, Madrid, Spain

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, suppressed renin, pathological PAC/renin ratio and hypertension did not submit to dynamic tests. Radiological evaluation, adrenal venous sampling, and surgical outcomes CT and/or MRI were performed at diagnosis in all patients included in the study

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Kuang Hung Department of Medical Imaging, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan

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Bo-Ching Lee Department of Medical Imaging, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan

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Po-Ting Chen Department of Medical Imaging, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan

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Kao-Lang Liu Department of Medical Imaging, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan

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Chin-Chen Chang Department of Medical Imaging, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
Department and Graduate Institute of Forensic Medicine, National Taiwan University College of Medicine, Taipei, Taiwan

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Vin-Cent Wu Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan

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Yen-Hung Lin Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan

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studies (computed tomography (CT) or magnetic resonance imaging (MRI)). Adrenalectomy has consequently been established as the treatment of choice for unilateral disease. Recently, there has been a growing focus on a special group with cortisol co

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Marta Araujo-Castro Department of Endocrinology & Nutrition, Hospital Universitario Ramón y Cajal & Instituto de Investigación Biomédica Ramón y Cajal (IRYCIS), Madrid, Spain
University of Alcalá, Madrid, Spain

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Miguel Paja Fano Department of Endocrinology & Nutrition, OSI Bilbao-Basurto, Hospital Universitario de Basurton & Basque Country University, Medicine Department, Bilbao, Spain

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Begoña Pla Peris Department of Endocrinology & Nutrition, Hospital Universitario de Castellón, Castellón, Spain

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Marga González Boillos Department of Endocrinology & Nutrition, Hospital Universitario de Castellón, Castellón, Spain

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Eider Pascual-Corrales Department of Endocrinology & Nutrition, Hospital Universitario Ramón y Cajal & Instituto de Investigación Biomédica Ramón y Cajal (IRYCIS), Madrid, Spain

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Ana María García-Cano Department of Biochemistry, Hospital Universitario Ramón y Cajal, Madrid, Spain

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Paola Parra Ramírez Department of Endocrinology & Nutrition, Hospital Universitario La Paz Madrid, Spain

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Patricia Martín Rojas-Marcos Department of Endocrinology & Nutrition, Hospital Universitario La Paz Madrid, Spain

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Jorge Gabriel Ruiz-Sanchez Department of Endocrinology & Nutrition, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain

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Almudena Vicente Department of Endocrinology & Nutrition, Hospital Universitario de Toledo, Toledo, Spain

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Emilia Gómez-Hoyos Department of Endocrinology & Nutrition, Hospital Universitario de Valladolid, Valladolid, Spain

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Rui Ferreira Department of Endocrinology & Nutrition, Hospital Universitario Rey Juan Carlos, Madrid, Spain

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Iñigo García Sanz Department of General & Digestive Surgery, Hospital Universitario de La Princesa, Madrid, Spain

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Mónica Recasens Department of Endocrinology & Nutrition, Institut Català de la Salut Girona, Girona, Spain

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Rebeca Barahona San Millan Department of Endocrinology & Nutrition, Institut Català de la Salut Girona, Girona, Spain

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María José Picón César Department of Endocrinology & Nutrition, Hospital Universitario Virgen de la Victoria de Málaga, IBIMA Malaga, Spain CIBEROBN, Madrid, Spain

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Patricia Díaz Guardiola Department of Endocrinology & Nutrition, Hospital Universitario Infanta Sofía, Madrid, Spain

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Carolina Perdomo Department of Endocrinology & Nutrition, Clínica Universidad de Navarra, Pamplona, Spain

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Laura Manjón Department of Endocrinology & Nutrition, Hospital Universitario Central de Asturias & Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain

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Rogelio García-Centeno Department of Endocrinology & Nutrition, Hospital Universitario Gregorio Marañón, Madrid, Spain

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Juan Carlos Percovich Department of Endocrinology & Nutrition, Hospital Universitario Gregorio Marañón, Madrid, Spain

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Ángel Rebollo Román Department of Endocrinology & Nutrition, Hospital Reina Sofía, Córdoba, Spain

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Paola Gracia Gimeno Department of Endocrinology & Nutrition, Hospital Rollo Villanova, Zaragoza, Spain

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Cristina Robles Lázaro Department of Endocrinology & Nutrition, Complejo Universitario de Salamanca, Salamanca, Spain

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Manuel Morales Biochemistry and Molecular Genetics Department-CDB, Hospital Clinic, IDIBAPS, CIBERehd, Barcelona, Spain

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María Calatayud Department of Endocrinology & Nutrition, Hospital Doce de Octubre, Madrid, Spain

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Simone Andree Furio Collao Department of Endocrinology & Nutrition, Hospital Doce de Octubre, Madrid, Spain

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Diego Meneses Department of Endocrinology & Nutrition, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain

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Miguel Antonio Sampedro Nuñez Department of Endocrinology & Nutrition, Hospital Universitario La Princesa, Madrid, Spain

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Verónica Escudero Quesada Department of Nephrology, Hospital Universitario Doctor Peser, Valencia, Spain

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Elena Mena Ribas Department of Endocrinology & Nutrition, Hospital Universitario Son Espases, Islas Baleares, Spain

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Alicia Sanmartín Sánchez Department of Endocrinology & Nutrition, Hospital Universitario Son Espases, Islas Baleares, Spain

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Cesar Gonzalvo Diaz Department of Endocrinology & Nutrition, Hospital Universitario De Albacete, Albacete, Spain

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Cristina Lamas Department of Endocrinology & Nutrition, Hospital Universitario De Albacete, Albacete, Spain

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Raquel Guerrero-Vázquez Department of Endocrinology & Nutrition, Hospital Virgen de la Macarena, Sevilla, Spain

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María del Castillo Tous Department of Endocrinology & Nutrition, Hospital Virgen de la Macarena, Sevilla, Spain

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Joaquín Serrano Department of Endocrinology & Nutrition, Hospital General Universitario de Alicante, Alicante, Spain

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Theodora Michalopoulou Department of Endocrinology and Nutrition, Joan XXIII University Hospital, Tarragona, Spain

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Eva María Moya Mateo Internal Medicine, Hospital Infanta Leonor de Vallecas, Madrid, Spain

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Felicia Hanzu Department of Endocrinology & Nutrition, Hospital Clinic, IDIPAS, Barcelona, Spain

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/mL) ( n =  83) 15.0 ± 10.97 20.2 ± 10.55 0.03 DHEAS (µg/dL) ( n =  48) 147.9 ± 294.23 126.4 ± 211.89 0.771 Maximum tumor size (mm) 24.4 ± 14.01 17.3 ± 6.84 <0.001 Unilateral lesion >2 cm in CT/MRI 37.3% ( n =  19) 17

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Debra M Gordon University of the Witwatersrand (WITS) Donald Gordon Medical Centre, Parktown, Johannesburg, South Africa

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Pablo Beckers Department of Human Genetics, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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Emilie Castermans Department of Human Genetics, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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Sebastian J C M M Neggers Department of Endocrinology, Erasmus University Medical Center, Rotterdam, The Netherlands

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Liliya Rostomyan Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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Vincent Bours Department of Human Genetics, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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Patrick Petrossians Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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Vinciane Dideberg Department of Human Genetics, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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Albert Beckers Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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Adrian F Daly Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Liège Université, Liège, Belgium

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.Asp113Metfs*21 change at the protein level. Figure 3 Panel A shows CT of patient P05 with bilateral carotid body paraganglioma due to a pathogenic germline SDHD variant (c.337_340delGACT; p.Asp113fs). Panel B shows a coronal MRI at diagnosis of a

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Fidéline Bonnet-Serrano Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Hormonology Department, Cochin Hospital, Paris, France

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Maxime Barat Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Radiology Department, Cochin Hospital, Paris, France

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Anna Vaczlavik Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Reference Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Paris, France

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Anne Jouinot Inserm U1016-CNRS UMR8104, Paris, France

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Lucas Bouys Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Reference Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Paris, France

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Christelle Laguillier-Morizot Université Paris Cité, Paris, France
Hormonology Department, Cochin Hospital, Paris, France
INSERM, Physiopathologie et Pharmacotoxicologie Placentaire Humaine : Microbiote Pré & Post natal, Paris, France

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Corinne Zientek Hormonology Department, Cochin Hospital, Paris, France

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Catherine Simonneau Hormonology Department, Cochin Hospital, Paris, France

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Etienne Larger Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Diabetology Department, Cochin Hospital, Paris, France

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Laurence Guignat Reference Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Paris, France

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Lionel Groussin Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Reference Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Paris, France

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Guillaume Assié Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Reference Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Paris, France

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Jean Guibourdenche Université Paris Cité, Paris, France
Hormonology Department, Cochin Hospital, Paris, France
INSERM, Physiopathologie et Pharmacotoxicologie Placentaire Humaine : Microbiote Pré & Post natal, Paris, France

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Ioannis Nicolis Université Paris Cité, Paris, France
UR 7537 BioSTM, Paris, France

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Jérôme Bertherat Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Reference Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Paris, France

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, 3D Slicer as an image computing platform for the quantitative imaging network . Magnetic Resonance Imaging 2012 30 1323 – 1341 . ( https://doi.org/10.1016/j.mri.2012.05.001 ) 22 Benjamini Y Hochberg Y . Controlling the false discovery rate

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Sofia Maria Lider Burciulescu University of Medicine and Pharmacy Carol Davila Bucharest, Bucharest, Romania
National Institute of Endocrinology CI Parhon, Bucharest, Romania

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Monica Livia Gheorghiu University of Medicine and Pharmacy Carol Davila Bucharest, Bucharest, Romania
National Institute of Endocrinology CI Parhon, Bucharest, Romania

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Andrei Muresan National Institute of Endocrinology CI Parhon, Bucharest, Romania

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Iuliana Gherlan University of Medicine and Pharmacy Carol Davila Bucharest, Bucharest, Romania
National Institute of Endocrinology CI Parhon, Bucharest, Romania

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Attila Patocs Department of Laboratory Medicine and Molecular Genetics, Clinical Genetics and Endocrinology Laboratory, Semmelweis University National Institute of Oncology, Budapest, Hungary

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Corin Badiu University of Medicine and Pharmacy Carol Davila Bucharest, Bucharest, Romania
National Institute of Endocrinology CI Parhon, Bucharest, Romania

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metastatic disease were CT scans and MRIs. The presence of AI was defined as low morning (08:00–09.00 h) cortisol level (<3 µg/dL) and insufficient cortisol response to a stimulation (Synachten) test at a maximum 1 month post surgery and the need of gluco

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Annelies van’t Westeinde Department of Women’s and Children’s Health, Karolinska Institutet and Division of Pediatrics, Unit for Pediatric Endocrinology and Metabolic Disorders, Karolinska University Hospital, Stockholm, Sweden

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Leif Karlsson Department of Women’s and Children’s Health, Karolinska Institutet and Division of Pediatrics, Unit for Pediatric Endocrinology and Metabolic Disorders, Karolinska University Hospital, Stockholm, Sweden

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Valeria Messina Department of Women’s and Children’s Health, Karolinska Institutet and Division of Pediatrics, Unit for Pediatric Endocrinology and Metabolic Disorders, Karolinska University Hospital, Stockholm, Sweden

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Lena Wallensteen Department of Women’s and Children’s Health, Karolinska Institutet and Division of Pediatrics, Unit for Pediatric Endocrinology and Metabolic Disorders, Karolinska University Hospital, Stockholm, Sweden

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Manuela Brösamle European Patient Advocacy Group for Adrenal Diseases, European Reference Network on Rare Endocrine Conditions (Endo ERN), Endo ERN Coordinating Centre, Leiden, The Netherlands

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Giorgio Dal Maso ArfSAG (Associazione Refionale Famiglie Sindrome Adreno Genitale) c/o Unita Operativa di Pediatria, Azienda Ospedaliero Universitaria di Bologna, Policlinico S Orsala-Malpighi, Bologna, Italy

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Alessandro Lazzerini Spanish Association of Congenital Adrenal Hyperplasia (CAH), Spain

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Jette Kristensen ePAG & Chair of Danish Addison Patient Association, Aarhus, Denmark

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Diana Kwast Dutch Adrenal Society NVACP, Nijkerk, The Netherlands

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Lea Tschaidse Department of Endocrinology, Medizinische Klinik IV, Klinikum der Universität München, Munich, Germany

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Matthias K Auer Department of Endocrinology, Medizinische Klinik IV, Klinikum der Universität München, Munich, Germany

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Hanna F Nowotny Department of Endocrinology, Medizinische Klinik IV, Klinikum der Universität München, Munich, Germany

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Luca Persani Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
Department of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy

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Nicole Reisch Department of Endocrinology, Medizinische Klinik IV, Klinikum der Universität München, Munich, Germany

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Svetlana Lajic Department of Women’s and Children’s Health, Karolinska Institutet and Division of Pediatrics, Unit for Pediatric Endocrinology and Metabolic Disorders, Karolinska University Hospital, Stockholm, Sweden

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, which is therefore important to monitor ( 95 ). Effects of prenatal DEX treatment on the child Supplementary Table 1 summarizes the outcomes in terms of cognitive functioning, behaviour, MRI and metabolic findings in DEX-treated subjects

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Avinaash Maharaj Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK

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Ruth Kwong Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK

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Jack Williams Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK

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Christopher Smith Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK

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Helen Storr Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK

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Ruth Krone Birmingham Children’s Hospital, Birmingham, UK

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Debora Braslavsky Centro de Investigaciones Endocrinológicas ‘Dr. Cesar Bergadá’ (CEDIE) – CONICET – FEI – División de Endocrinología, Hospital de Niños ‘Ricardo Gutiérrez’, Buenos Aires, Argentina

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Maria Clemente Paediatric Endocrinology, Growth and Development Research Unit, Vall d’Hebron Research Institute (VHIR), Hospital Vall d’Hebron, CIBERER, Instituto de Salud Carlos III, Barcelona, Spain

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Nanik Ram Department of Endocrinology, The Aga Khan University Hospital, Karachi, Pakistan

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Indraneel Banerjee Department of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester, UK

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Semra Çetinkaya Health Sciences University, Dr. Sami Ulus Obstetrics and Gynaecology, Children’s Health and Disease Education and Research Hospital, Ankara, Turkey

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Federica Buonocore Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK

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Tülay Güran Department of Paediatric Endocrinology and Diabetes, Marmara University, School of Medicine, Istanbul, Turkey

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John C Achermann Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, UK

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Louise Metherell Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK

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Rathi Prasad Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, London, UK

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Weaver N Alhasan K Gumus E Sullivan BR Zenker M Hildebrandt F Saba JD . MRI spectrum of brain involvement in sphingosine-1-phosphate lyase insufficiency syndrome . American Journal of Neuroradiology 2020 41 1943 – 1948 . ( https

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