Hauke Thomsen
Hauke Thomsen
Division of Molecular Genetic Epidemiology, German Cancer Research Centre (DKFZ), Heidelberg, Germany
Center for Primary Health Care Research, Lund University, Malmö, Sweden
GeneWerk GmbH, Heidelberg, Germany
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Center for Primary Health Care Research, Lund University, Malmö, Sweden
GeneWerk GmbH, Heidelberg, Germany
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Xinjun Li
Xinjun Li
Center for Primary Health Care Research, Lund University, Malmö, Sweden
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Kristina Sundquist
Kristina Sundquist
Center for Primary Health Care Research, Lund University, Malmö, Sweden
Departments of Family Medicine and Community Health, Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, New York, USA
Center for Community-based Healthcare Research and Education (CoHRE), Department of Functional Pathology, School of Medicine, Shimane University, Shimane, Japan
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Departments of Family Medicine and Community Health, Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, New York, USA
Center for Community-based Healthcare Research and Education (CoHRE), Department of Functional Pathology, School of Medicine, Shimane University, Shimane, Japan
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Jan Sundquist
Jan Sundquist
Center for Primary Health Care Research, Lund University, Malmö, Sweden
Departments of Family Medicine and Community Health, Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, New York, USA
Center for Community-based Healthcare Research and Education (CoHRE), Department of Functional Pathology, School of Medicine, Shimane University, Shimane, Japan
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Departments of Family Medicine and Community Health, Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, New York, USA
Center for Community-based Healthcare Research and Education (CoHRE), Department of Functional Pathology, School of Medicine, Shimane University, Shimane, Japan
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Asta Försti
Asta Försti
Division of Molecular Genetic Epidemiology, German Cancer Research Centre (DKFZ), Heidelberg, Germany
Center for Primary Health Care Research, Lund University, Malmö, Sweden
Hopp Children’s Cancer Center (KiTZ), Heidelberg, Germany
Division of Pediatric Neurooncology, German Cancer Research Centre (DKFZ), German Cancer Consortium (DKTK), Heidelberg, Germany
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Center for Primary Health Care Research, Lund University, Malmö, Sweden
Hopp Children’s Cancer Center (KiTZ), Heidelberg, Germany
Division of Pediatric Neurooncology, German Cancer Research Centre (DKFZ), German Cancer Consortium (DKTK), Heidelberg, Germany
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Kari Hemminki
Kari Hemminki
Division of Molecular Genetic Epidemiology, German Cancer Research Centre (DKFZ), Heidelberg, Germany
Center for Primary Health Care Research, Lund University, Malmö, Sweden
Division of Cancer Epidemiology, German Cancer Research Centre (DKFZ), Heidelberg, Germany
Faculty of Medicine and Biomedical Center in Pilsen, Charles University in Prague, Pilsen, Czech Republic
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Center for Primary Health Care Research, Lund University, Malmö, Sweden
Division of Cancer Epidemiology, German Cancer Research Centre (DKFZ), Heidelberg, Germany
Faculty of Medicine and Biomedical Center in Pilsen, Charles University in Prague, Pilsen, Czech Republic
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-morbidity of at least two of the following three AIDs: AD, type 1 diabetes or autoimmune thyroid disease, but it may also include other AIDs ( 4 ). AD patients may present with multiple AIDs, irrespective of APS-2; among Norwegian and Swedish patients only less
M S Elston
M S Elston
Department of Endocrinology, Waikato Hospital, Hamilton, New Zealand
Waikato Clinical Campus, University of Auckland, Hamilton, New Zealand
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Waikato Clinical Campus, University of Auckland, Hamilton, New Zealand
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V B Crawford
V B Crawford
Department of Endocrinology, Waikato Hospital, Hamilton, New Zealand
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M Swarbrick
M Swarbrick
Department of Radiology, Waikato Hospital, Hamilton, New Zealand
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M S Dray
M S Dray
Department of Pathology, Waikato Hospital, Hamilton, New Zealand
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M Head
M Head
Department of Oncology, Tauranga Hospital, Tauranga, New Zealand
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J V Conaglen
J V Conaglen
Waikato Clinical Campus, University of Auckland, Hamilton, New Zealand
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, carcinoid tumour and teratoma) ( 4 , 5 , 6 ) and genitourinary sources including the prostate ( 7 ) as well as cloacogenic carcinoma of the anal canal ( 8 ). Prostate cancer causing CS due to ectopic ACTH or CRH production is rare with <30 published cases
Ayse Nurcan Cebeci
Ayse Nurcan Cebeci
Paediatric Endocrinology, Department of Friedrich-Alexander University Hospital, Erlangen, Germany
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Vera Schempp
Vera Schempp
Paediatric Endocrinology, University Hospital, Bonn, Germany
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Katharina Förtsch
Katharina Förtsch
Paediatric Endocrinology, University Hospital, Düsseldorf, Germany
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Bettina Gohlke
Bettina Gohlke
Paediatric Endocrinology, University Hospital, Bonn, Germany
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Michaela Marx
Michaela Marx
Paediatric Endocrinology, Department of Friedrich-Alexander University Hospital, Erlangen, Germany
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Helmuth-Guenther Dörr
Helmuth-Guenther Dörr
Paediatric Endocrinology, Department of Friedrich-Alexander University Hospital, Erlangen, Germany
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Joachim Woelfle
Joachim Woelfle
Paediatric Endocrinology, Department of Friedrich-Alexander University Hospital, Erlangen, Germany
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hyperthyroidism, such as Hashimoto’s disease with hyperthyroidism, neonatal hyperthyroidism, or hyperthyroidism due to rare conditions like McCune Albright syndrome or non-immune hyperthyroidism. Our study provides information regarding clinical features and long
Elizaveta Mamedova
Elizaveta Mamedova
Department of Neuroendocrinology and Bone Diseases, Endocrinology Research Center, Moscow, Russian Federation
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Natalya Mokrysheva
Natalya Mokrysheva
Department of Parathyroid Diseases, Endocrinology Research Center, Moscow, Russian Federation
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Evgeny Vasilyev
Evgeny Vasilyev
Department and Laboratory of Inherited Endocrine Disorders, Endocrinology Research Center, Moscow, Russian Federation
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Vasily Petrov
Vasily Petrov
Department and Laboratory of Inherited Endocrine Disorders, Endocrinology Research Center, Moscow, Russian Federation
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Ekaterina Pigarova
Ekaterina Pigarova
Department of Neuroendocrinology and Bone Diseases, Endocrinology Research Center, Moscow, Russian Federation
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Sergey Kuznetsov
Sergey Kuznetsov
Department of Surgery, Endocrinology Research Center, Moscow, Russian Federation
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Nikolay Kuznetsov
Nikolay Kuznetsov
Department of Surgery, Endocrinology Research Center, Moscow, Russian Federation
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Liudmila Rozhinskaya
Liudmila Rozhinskaya
Department of Neuroendocrinology and Bone Diseases, Endocrinology Research Center, Moscow, Russian Federation
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Galina Melnichenko
Galina Melnichenko
I.M. Sechenov First Moscow State Medical University, Moscow, Russian Federation
Institute of Clinical Endocrinology, Endocrinology Research Center, Moscow, Russian Federation
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Institute of Clinical Endocrinology, Endocrinology Research Center, Moscow, Russian Federation
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Ivan Dedov
Ivan Dedov
Endocrinology Research Center, Moscow, Russian Federation
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Anatoly Tiulpakov
Anatoly Tiulpakov
Department and Laboratory of Inherited Endocrine Disorders, Endocrinology Research Center, Moscow, Russian Federation
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typically the first manifestation of the disease, the onset is usually between ages 20 and 25 years, and it is caused by multiple parathyroid hyperplasia or adenomas ( 6 ). PHPT in HPT-JT has been observed in up to 95% of affected individuals, with the
Natalie Rogowski-Lehmann
Natalie Rogowski-Lehmann
Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany
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Aikaterini Geroula
Aikaterini Geroula
Institut für Klinische Chemie und Laboratoriumsmedizin, Universitätsklinikum Carl Gustav Carus an der TU Dresden, Dresden, Germany
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Aleksander Prejbisz
Aleksander Prejbisz
Department of Hypertension, Institute of Cardiology, Warsaw, Poland
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Henri J L M Timmers
Henri J L M Timmers
Section of Endocrinology, Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands
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Felix Megerle
Felix Megerle
Medizinische Klinik und Poliklinik I des Universitätsklinikums Würzburg, Würzburg, Germany
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Mercedes Robledo
Mercedes Robledo
Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Madrid, Spain
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Martin Fassnacht
Martin Fassnacht
Medizinische Klinik und Poliklinik I des Universitätsklinikums Würzburg, Würzburg, Germany
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Stephanie M J Fliedner
Stephanie M J Fliedner
First Department of Medicine, University Medical Center Schleswig-Holstein, Lübeck, Germany
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Martin Reincke
Martin Reincke
Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany
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Anthony Stell
Anthony Stell
Department of Computing and Information, University of Melbourne, Melbourne Australia
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Andrzej Januszewicz
Andrzej Januszewicz
Department of Hypertension, Institute of Cardiology, Warsaw, Poland
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Jacques W M Lenders
Jacques W M Lenders
Section of Endocrinology, Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands
Medizinische Klinik III, Universitätsklinikum Carl Gustav Carus an der Technische Universität Dresden, Dresden, Germany
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Medizinische Klinik III, Universitätsklinikum Carl Gustav Carus an der Technische Universität Dresden, Dresden, Germany
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Graeme Eisenhofer
Graeme Eisenhofer
Institut für Klinische Chemie und Laboratoriumsmedizin, Universitätsklinikum Carl Gustav Carus an der TU Dresden, Dresden, Germany
Medizinische Klinik III, Universitätsklinikum Carl Gustav Carus an der Technische Universität Dresden, Dresden, Germany
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Medizinische Klinik III, Universitätsklinikum Carl Gustav Carus an der Technische Universität Dresden, Dresden, Germany
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Felix Beuschlein
Felix Beuschlein
Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany
Klinik für Endokrinologie, Diabetologie und Klinische Ernährung, Universitätsspital Zürich, Zürich, Switzerland
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Klinik für Endokrinologie, Diabetologie und Klinische Ernährung, Universitätsspital Zürich, Zürich, Switzerland
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diagnosed by imaging and concomitant syndromic presentation, positive family history or metastatic disease. # Clinical context Reason for inclusion as putatively incidental 1 Family history or syndromic presentation First
Rimesh Pal
Rimesh Pal
Department of Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India
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Sanjay Kumar Bhadada
Sanjay Kumar Bhadada
Department of Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India
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Awesh Singhare
Awesh Singhare
Department of Endocrinology, P D Hinduja Hospital and Medical Research Centre, Mumbai, India
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Anil Bhansali
Anil Bhansali
Department of Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India
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Sadishkumar Kamalanathan
Sadishkumar Kamalanathan
Department of Endocrinology, Jawaharlal Institute of Post Graduate Medical Education and Research, Pondicherry, India
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Manoj Chadha
Manoj Chadha
Department of Endocrinology, P D Hinduja Hospital and Medical Research Centre, Mumbai, India
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Phulrenu Chauhan
Phulrenu Chauhan
Department of Endocrinology, P D Hinduja Hospital and Medical Research Centre, Mumbai, India
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Ashwani Sood
Ashwani Sood
Department of Nuclear Medicine, Post Graduate Institute of Medical Education and Research, Chandigarh, India
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Vandana Dhiman
Vandana Dhiman
Department of Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India
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Dinesh Chandra Sharma
Dinesh Chandra Sharma
Division of Endocrinology, Rabindranath Tagore Medical College, Udaipur, India
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Uma Nahar Saikia
Uma Nahar Saikia
Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India
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Debajyoti Chatterjee
Debajyoti Chatterjee
Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India
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Vikas Agashe
Vikas Agashe
Department of Orthopaedics, P D Hinduja Hospital and Medical Research Centre, Mumbai, India
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Introduction Tumor-induced osteomalacia (TIO), also known as oncogenic osteomalacia, is a rare paraneoplastic syndrome characterized by persistent hypophosphatemia. The basic pathophysiology of underlying hypophosphatemia is increased renal
Dimitra Argyro Vassiliadi
Dimitra Argyro Vassiliadi
Department of Endocrinology Diabetes and Metabolism, National Expertise Center for Rare Endocrine Diseases, Evangelismos Hospital, Athens, Greece
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Ioannis Ilias
Ioannis Ilias
Department of Endocrinology Diabetes and Metabolism, Elena Venizelou Hospital, Elena Venizelou Square, Athens, Greece
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Maria Pratikaki
Maria Pratikaki
1st Department of Critical Care & Pulmonary Services, Medical School National & Kapodistrian, Evangelismos Hospital, University of Athens, Athens, Greece
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Edison Jahaj
Edison Jahaj
1st Department of Critical Care & Pulmonary Services, Medical School National & Kapodistrian, Evangelismos Hospital, University of Athens, Athens, Greece
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Alice G Vassiliou
Alice G Vassiliou
1st Department of Critical Care, GP Livanos & M Simou Laboratories, Medical School National & Kapodistrian, Evangelismos Hospital, University of Athens, Athens, Greece
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Maria Detsika
Maria Detsika
1st Department of Critical Care, GP Livanos & M Simou Laboratories, Medical School National & Kapodistrian, Evangelismos Hospital, University of Athens, Athens, Greece
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Kleio Ampelakiotou
Kleio Ampelakiotou
Department of Immunology and Histocompatibility Evangelismos Hospital, Athens, Greece
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Marina Koulenti
Marina Koulenti
Department of Endocrinology Diabetes and Metabolism, National Expertise Center for Rare Endocrine Diseases, Evangelismos Hospital, Athens, Greece
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Konstantinos N Manolopoulos
Konstantinos N Manolopoulos
Department of Endocrinology Diabetes and Metabolism, National Expertise Center for Rare Endocrine Diseases, Evangelismos Hospital, Athens, Greece
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Stamatis Tsipilis
Stamatis Tsipilis
1st Department of Critical Care & Pulmonary Services, Medical School National & Kapodistrian, Evangelismos Hospital, University of Athens, Athens, Greece
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Evdokia Gavrielatou
Evdokia Gavrielatou
1st Department of Critical Care & Pulmonary Services, Medical School National & Kapodistrian, Evangelismos Hospital, University of Athens, Athens, Greece
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Aristidis Diamantopoulos
Aristidis Diamantopoulos
Department of Endocrinology Diabetes and Metabolism, National Expertise Center for Rare Endocrine Diseases, Evangelismos Hospital, Athens, Greece
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Alexandros Zacharis
Alexandros Zacharis
1st Department of Critical Care & Pulmonary Services, Medical School National & Kapodistrian, Evangelismos Hospital, University of Athens, Athens, Greece
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Nicolaos Athanasiou
Nicolaos Athanasiou
1st Department of Critical Care & Pulmonary Services, Medical School National & Kapodistrian, Evangelismos Hospital, University of Athens, Athens, Greece
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Stylianos Orfanos
Stylianos Orfanos
2nd Department of Critical Care Medical School National & Kapodistrian University of Athens Attikon University Hospital, Athens-Haidari, Greece
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Anastasia Kotanidou
Anastasia Kotanidou
1st Department of Critical Care & Pulmonary Services, Medical School National & Kapodistrian, Evangelismos Hospital, University of Athens, Athens, Greece
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Stylianos Tsagarakis
Stylianos Tsagarakis
Department of Endocrinology Diabetes and Metabolism, National Expertise Center for Rare Endocrine Diseases, Evangelismos Hospital, Athens, Greece
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Ioanna Dimopoulou
Ioanna Dimopoulou
1st Department of Critical Care & Pulmonary Services, Medical School National & Kapodistrian, Evangelismos Hospital, University of Athens, Athens, Greece
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Introduction With the emergence of the COVID-19 pandemic, caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), it was soon realized that the disease affects not only the respiratory system but also multiple organs and
Felix Reschke
Felix Reschke
Auf Der Bult Children’s Hospital, Centre for Paediatric Endocrinology, Diabetology, and Clinical Research, Hannover, Germany
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Torben Biester
Torben Biester
Auf Der Bult Children’s Hospital, Centre for Paediatric Endocrinology, Diabetology, and Clinical Research, Hannover, Germany
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Thekla von dem Berge
Thekla von dem Berge
Auf Der Bult Children’s Hospital, Centre for Paediatric Endocrinology, Diabetology, and Clinical Research, Hannover, Germany
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Dagmar Jamiolkowski
Dagmar Jamiolkowski
Auf Der Bult Children’s Hospital, Department of Paediatric Dermatology, Hannover, Germany
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Laura Hasse
Laura Hasse
Auf Der Bult Children’s Hospital, Department of Paediatric Dermatology, Hannover, Germany
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Francesca Dassie
Francesca Dassie
Padua University Hospital, Clinica Medica 3, Department of Medicine (DIMED), Padova, Veneto, Italy
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Pietro Maffei
Pietro Maffei
Padua University Hospital, Clinica Medica 3, Department of Medicine (DIMED), Padova, Veneto, Italy
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Katharina Klee
Katharina Klee
Auf Der Bult Children’s Hospital, Centre for Paediatric Endocrinology, Diabetology, and Clinical Research, Hannover, Germany
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Olga Kordonouri
Olga Kordonouri
Auf Der Bult Children’s Hospital, Centre for Paediatric Endocrinology, Diabetology, and Clinical Research, Hannover, Germany
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Hagen Ott
Hagen Ott
Auf Der Bult Children’s Hospital, Department of Paediatric Dermatology, Hannover, Germany
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Thomas Danne
Thomas Danne
Auf Der Bult Children’s Hospital, Centre for Paediatric Endocrinology, Diabetology, and Clinical Research, Hannover, Germany
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patients, metabolic disorders and sensorineural hearing loss. In addition, several organ systems, such as the heart or kidney, can be affected. Alström syndrome is a very rare disease. About 270 cases have been described in the literature so far (2017
Mette H Viuff
Mette H Viuff
Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
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Claus H Gravholt
Claus H Gravholt
Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark
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Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark
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Turner syndrome (TS) is a condition with a missing X chromosome (45,X) or parts thereof or with a mosaic setup (45,X/46,XX or other variants). It is a rare disease. New international guidelines describe an appropriate setup for optimal clinical
Susan M Webb
Susan M Webb
IIB-Sant Pau, Research Center for Pituitary Diseases, Barcelona, Spain
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, Unidad 747), ISCIII, Spain
Department of Endocrinology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
Department of Medicine, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain
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Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, Unidad 747), ISCIII, Spain
Department of Endocrinology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
Department of Medicine, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain
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Jette Kristensen
Jette Kristensen
ePAG & Chair of Danish Addison Patient Association, Aarhus, Denmark
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Anna Nordenström
Anna Nordenström
Pediatric Endocrinology, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden
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Diana Vitali
Diana Vitali
ePAG & Chair SOD ITALIA - Italian Patients Organization for Septo Optic Dysplasia and other Neuroendocrine Conditions, Rome, Italy
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Vincent Amodru
Vincent Amodru
Aix-Marseille Université, Institut National de la Santé et de la Recherche Médicale (INSERM), U1251, Marseille Medical Genetics, Institut MarMaRa, Marseille, France
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Lenja Katharina Wiehe
Lenja Katharina Wiehe
EURORDIS - Rare Diseases Europe, Paris, France
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Matt Bolz-Johnson
Matt Bolz-Johnson
EURORDIS - Rare Diseases Europe, Paris, France
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their implementation in 2017 is to tackle the current hurdles of complex or rare diseases and to connect collective experience and expertise across Europe, facilitating the knowledge to travel instead of the patient. Collecting data on PJ from different
