The Gene of the Ubiquitin-Specific Protease 8 Is Frequently Mutated in Adenomas Causing Cushing's Disease.
BACKGROUND
We have recently reported somatic mutations in the ubiquitin-specific protease USP8 gene in a small series of adenomas of patients with Cushing's disease.


OBJECTIVE
To determine the prevalence of USP8 mutations and the genotype-phenotype correlation in a large series of patients diagnosed with Cushing's disease.


METHODS
We performed a retrospective, multicentric, genetic analysis of 134 functioning and 11 silent corticotroph adenomas using Sanger sequencing. Biochemical and clinical features were collected and examined within the context of the mutational status of USP8, and new mutations were characterized by functional studies.


METHODS
A total of 145 patients who underwent surgery for an ACTH-producing pituitary adenoma.


METHODS
Mutational status of USP8. Biochemical and clinical features included sex, age at diagnosis, tumor size, preoperative and postoperative hormonal levels, and comorbidities.


RESULTS
We found somatic mutations in USP8 in 48 (36%) pituitary adenomas from patients with Cushing's disease but in none of 11 silent corticotropinomas. The prevalence was higher in adults than in pediatric cases (41 vs 17%) and in females than in males (43 vs 17%). Adults having USP8-mutated adenomas were diagnosed at an earlier age than those with wild-type lesions (36 vs 44 y). Mutations were primarily found in adenomas of 10 ± 7 mm and were inversely associated with the development of postoperative adrenal insufficiency. All the mutations affected the residues Ser718 or Pro720, including five new identified alterations. Mutations reduced the interaction between USP8 and 14-3-3 and enhanced USP8 activity. USP8 mutants diminished epidermal growth factor receptor ubiquitination and induced Pomc promoter activity in immortalized AtT-20 corticotropinoma cells.


CONCLUSIONS
USP8 is frequently mutated in adenomas causing Cushing's disease, especially in those from female adult patients diagnosed at a younger age.
Medizinische Klinik und Poliklinik IV (L.G.P.-R., C.N., C.M.B., F.B., M.R.), Ludwig-Maximilians-Universität München, 80336 Munich, Germany; Department of Endocrinology (M.The., C.D., G.S.), Max Planck Institute of Psychiatry, 80804 Munich, Germany; Centre for Endocrinology (F.F., M.Kor.), William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, United Kingdom; Department of Biological Sciences (K.K., A.I.A., M.Kom.), Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Midori 226-8501 Yokohama, Japan; Section on Endocrinology and Genetics (C.A.S., F.R.F.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-2425; Division of Endocrinology (L.E.W., M.R.G.), Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, 21941-913 Rio de Janeiro, Brazil; Inserm Unité 1016 (G.A., J.B.), Centre National de la Recherche Scientifique Unité Mixte de Recherche, Institut Cochin, Université Paris Descartes, 75014 Paris, France; Department of Neuropathology (R.B.), Institute of Pathology and Neuropathology, Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Neurochirurgische Klinik (M.B.), Klinikum der Universität Erlangen, Friedrich-Alexander-Universität Erlangen-Nürmberg, 91054 Erlangen, Germany; Department of Neurosurgery (J.H.), Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Faculty of Medicine (V.P.), University of Belgrade, and Clinic of Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center, University of Belgrade, 11 000 Belgrade, Serbia; Second Department of Medicine (M.Tót.), Faculty of Medicine, Semmelweis University, 1088 Budapest, Hungary; and School of Life Science and Technology (A.I.A.), Bandung Institute of Technology, 40132 Bandung, Ind
Luis G
LG
Perez-Rivas
Medizinische Klinik und Poliklinik IV (L.G.P.-R., C.N., C.M.B., F.B., M.R.), Ludwig-Maximilians-Universität München, 80336 Munich, Germany; Department of Endocrinology (M.The., C.D., G.S.), Max Planck Institute of Psychiatry, 80804 Munich, Germany; Centre for Endocrinology (F.F., M.Kor.), William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, United Kingdom; Department of Biological Sciences (K.K., A.I.A., M.Kom.), Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Midori 226-8501 Yokohama, Japan; Section on Endocrinology and Genetics (C.A.S., F.R.F.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-2425; Division of Endocrinology (L.E.W., M.R.G.), Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, 21941-913 Rio de Janeiro, Brazil; Inserm Unité 1016 (G.A., J.B.), Centre National de la Recherche Scientifique Unité Mixte de Recherche, Institut Cochin, Université Paris Descartes, 75014 Paris, France; Department of Neuropathology (R.B.), Institute of Pathology and Neuropathology, Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Neurochirurgische Klinik (M.B.), Klinikum der Universität Erlangen, Friedrich-Alexander-Universität Erlangen-Nürmberg, 91054 Erlangen, Germany; Department of Neurosurgery (J.H.), Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Faculty of Medicine (V.P.), University of Belgrade, and Clinic of Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center, University of Belgrade, 11 000 Belgrade, Serbia; Second Department of Medicine (M.Tót.), Faculty of Medicine, Semmelweis University, 1088 Budapest, Hungary; and School of Life Science and Technology (A.I.A.), Bandung Institute of Technology, 40132 Bandung, Ind
Marily
M
Theodoropoulou
Medizinische Klinik und Poliklinik IV (L.G.P.-R., C.N., C.M.B., F.B., M.R.), Ludwig-Maximilians-Universität München, 80336 Munich, Germany; Department of Endocrinology (M.The., C.D., G.S.), Max Planck Institute of Psychiatry, 80804 Munich, Germany; Centre for Endocrinology (F.F., M.Kor.), William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, United Kingdom; Department of Biological Sciences (K.K., A.I.A., M.Kom.), Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Midori 226-8501 Yokohama, Japan; Section on Endocrinology and Genetics (C.A.S., F.R.F.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-2425; Division of Endocrinology (L.E.W., M.R.G.), Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, 21941-913 Rio de Janeiro, Brazil; Inserm Unité 1016 (G.A., J.B.), Centre National de la Recherche Scientifique Unité Mixte de Recherche, Institut Cochin, Université Paris Descartes, 75014 Paris, France; Department of Neuropathology (R.B.), Institute of Pathology and Neuropathology, Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Neurochirurgische Klinik (M.B.), Klinikum der Universität Erlangen, Friedrich-Alexander-Universität Erlangen-Nürmberg, 91054 Erlangen, Germany; Department of Neurosurgery (J.H.), Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Faculty of Medicine (V.P.), University of Belgrade, and Clinic of Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center, University of Belgrade, 11 000 Belgrade, Serbia; Second Department of Medicine (M.Tót.), Faculty of Medicine, Semmelweis University, 1088 Budapest, Hungary; and School of Life Science and Technology (A.I.A.), Bandung Institute of Technology, 40132 Bandung, Ind
Francesco
F
Ferraù
Medizinische Klinik und Poliklinik IV (L.G.P.-R., C.N., C.M.B., F.B., M.R.), Ludwig-Maximilians-Universität München, 80336 Munich, Germany; Department of Endocrinology (M.The., C.D., G.S.), Max Planck Institute of Psychiatry, 80804 Munich, Germany; Centre for Endocrinology (F.F., M.Kor.), William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, United Kingdom; Department of Biological Sciences (K.K., A.I.A., M.Kom.), Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Midori 226-8501 Yokohama, Japan; Section on Endocrinology and Genetics (C.A.S., F.R.F.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-2425; Division of Endocrinology (L.E.W., M.R.G.), Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, 21941-913 Rio de Janeiro, Brazil; Inserm Unité 1016 (G.A., J.B.), Centre National de la Recherche Scientifique Unité Mixte de Recherche, Institut Cochin, Université Paris Descartes, 75014 Paris, France; Department of Neuropathology (R.B.), Institute of Pathology and Neuropathology, Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Neurochirurgische Klinik (M.B.), Klinikum der Universität Erlangen, Friedrich-Alexander-Universität Erlangen-Nürmberg, 91054 Erlangen, Germany; Department of Neurosurgery (J.H.), Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Faculty of Medicine (V.P.), University of Belgrade, and Clinic of Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center, University of Belgrade, 11 000 Belgrade, Serbia; Second Department of Medicine (M.Tót.), Faculty of Medicine, Semmelweis University, 1088 Budapest, Hungary; and School of Life Science and Technology (A.I.A.), Bandung Institute of Technology, 40132 Bandung, Ind
Clara
C
Nusser
Medizinische Klinik und Poliklinik IV (L.G.P.-R., C.N., C.M.B., F.B., M.R.), Ludwig-Maximilians-Universität München, 80336 Munich, Germany; Department of Endocrinology (M.The., C.D., G.S.), Max Planck Institute of Psychiatry, 80804 Munich, Germany; Centre for Endocrinology (F.F., M.Kor.), William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, United Kingdom; Department of Biological Sciences (K.K., A.I.A., M.Kom.), Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Midori 226-8501 Yokohama, Japan; Section on Endocrinology and Genetics (C.A.S., F.R.F.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-2425; Division of Endocrinology (L.E.W., M.R.G.), Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, 21941-913 Rio de Janeiro, Brazil; Inserm Unité 1016 (G.A., J.B.), Centre National de la Recherche Scientifique Unité Mixte de Recherche, Institut Cochin, Université Paris Descartes, 75014 Paris, France; Department of Neuropathology (R.B.), Institute of Pathology and Neuropathology, Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Neurochirurgische Klinik (M.B.), Klinikum der Universität Erlangen, Friedrich-Alexander-Universität Erlangen-Nürmberg, 91054 Erlangen, Germany; Department of Neurosurgery (J.H.), Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Faculty of Medicine (V.P.), University of Belgrade, and Clinic of Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center, University of Belgrade, 11 000 Belgrade, Serbia; Second Department of Medicine (M.Tót.), Faculty of Medicine, Semmelweis University, 1088 Budapest, Hungary; and School of Life Science and Technology (A.I.A.), Bandung Institute of Technology, 40132 Bandung, Ind
Kohei
K
Kawaguchi
Medizinische Klinik und Poliklinik IV (L.G.P.-R., C.N., C.M.B., F.B., M.R.), Ludwig-Maximilians-Universität München, 80336 Munich, Germany; Department of Endocrinology (M.The., C.D., G.S.), Max Planck Institute of Psychiatry, 80804 Munich, Germany; Centre for Endocrinology (F.F., M.Kor.), William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, United Kingdom; Department of Biological Sciences (K.K., A.I.A., M.Kom.), Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Midori 226-8501 Yokohama, Japan; Section on Endocrinology and Genetics (C.A.S., F.R.F.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-2425; Division of Endocrinology (L.E.W., M.R.G.), Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, 21941-913 Rio de Janeiro, Brazil; Inserm Unité 1016 (G.A., J.B.), Centre National de la Recherche Scientifique Unité Mixte de Recherche, Institut Cochin, Université Paris Descartes, 75014 Paris, France; Department of Neuropathology (R.B.), Institute of Pathology and Neuropathology, Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Neurochirurgische Klinik (M.B.), Klinikum der Universität Erlangen, Friedrich-Alexander-Universität Erlangen-Nürmberg, 91054 Erlangen, Germany; Department of Neurosurgery (J.H.), Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Faculty of Medicine (V.P.), University of Belgrade, and Clinic of Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center, University of Belgrade, 11 000 Belgrade, Serbia; Second Department of Medicine (M.Tót.), Faculty of Medicine, Semmelweis University, 1088 Budapest, Hungary; and School of Life Science and Technology (A.I.A.), Bandung Institute of Technology, 40132 Bandung, Ind
Constantine A
CA
Stratakis
Medizinische Klinik und Poliklinik IV (L.G.P.-R., C.N., C.M.B., F.B., M.R.), Ludwig-Maximilians-Universität München, 80336 Munich, Germany; Department of Endocrinology (M.The., C.D., G.S.), Max Planck Institute of Psychiatry, 80804 Munich, Germany; Centre for Endocrinology (F.F., M.Kor.), William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, United Kingdom; Department of Biological Sciences (K.K., A.I.A., M.Kom.), Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Midori 226-8501 Yokohama, Japan; Section on Endocrinology and Genetics (C.A.S., F.R.F.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-2425; Division of Endocrinology (L.E.W., M.R.G.), Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, 21941-913 Rio de Janeiro, Brazil; Inserm Unité 1016 (G.A., J.B.), Centre National de la Recherche Scientifique Unité Mixte de Recherche, Institut Cochin, Université Paris Descartes, 75014 Paris, France; Department of Neuropathology (R.B.), Institute of Pathology and Neuropathology, Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Neurochirurgische Klinik (M.B.), Klinikum der Universität Erlangen, Friedrich-Alexander-Universität Erlangen-Nürmberg, 91054 Erlangen, Germany; Department of Neurosurgery (J.H.), Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Faculty of Medicine (V.P.), University of Belgrade, and Clinic of Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center, University of Belgrade, 11 000 Belgrade, Serbia; Second Department of Medicine (M.Tót.), Faculty of Medicine, Semmelweis University, 1088 Budapest, Hungary; and School of Life Science and Technology (A.I.A.), Bandung Institute of Technology, 40132 Bandung, Ind
Fabio Rueda
FR
Faucz
Medizinische Klinik und Poliklinik IV (L.G.P.-R., C.N., C.M.B., F.B., M.R.), Ludwig-Maximilians-Universität München, 80336 Munich, Germany; Department of Endocrinology (M.The., C.D., G.S.), Max Planck Institute of Psychiatry, 80804 Munich, Germany; Centre for Endocrinology (F.F., M.Kor.), William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, United Kingdom; Department of Biological Sciences (K.K., A.I.A., M.Kom.), Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Midori 226-8501 Yokohama, Japan; Section on Endocrinology and Genetics (C.A.S., F.R.F.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-2425; Division of Endocrinology (L.E.W., M.R.G.), Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, 21941-913 Rio de Janeiro, Brazil; Inserm Unité 1016 (G.A., J.B.), Centre National de la Recherche Scientifique Unité Mixte de Recherche, Institut Cochin, Université Paris Descartes, 75014 Paris, France; Department of Neuropathology (R.B.), Institute of Pathology and Neuropathology, Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Neurochirurgische Klinik (M.B.), Klinikum der Universität Erlangen, Friedrich-Alexander-Universität Erlangen-Nürmberg, 91054 Erlangen, Germany; Department of Neurosurgery (J.H.), Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Faculty of Medicine (V.P.), University of Belgrade, and Clinic of Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center, University of Belgrade, 11 000 Belgrade, Serbia; Second Department of Medicine (M.Tót.), Faculty of Medicine, Semmelweis University, 1088 Budapest, Hungary; and School of Life Science and Technology (A.I.A.), Bandung Institute of Technology, 40132 Bandung, Ind
Luiz E
LE
Wildemberg
Medizinische Klinik und Poliklinik IV (L.G.P.-R., C.N., C.M.B., F.B., M.R.), Ludwig-Maximilians-Universität München, 80336 Munich, Germany; Department of Endocrinology (M.The., C.D., G.S.), Max Planck Institute of Psychiatry, 80804 Munich, Germany; Centre for Endocrinology (F.F., M.Kor.), William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, United Kingdom; Department of Biological Sciences (K.K., A.I.A., M.Kom.), Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Midori 226-8501 Yokohama, Japan; Section on Endocrinology and Genetics (C.A.S., F.R.F.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-2425; Division of Endocrinology (L.E.W., M.R.G.), Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, 21941-913 Rio de Janeiro, Brazil; Inserm Unité 1016 (G.A., J.B.), Centre National de la Recherche Scientifique Unité Mixte de Recherche, Institut Cochin, Université Paris Descartes, 75014 Paris, France; Department of Neuropathology (R.B.), Institute of Pathology and Neuropathology, Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Neurochirurgische Klinik (M.B.), Klinikum der Universität Erlangen, Friedrich-Alexander-Universität Erlangen-Nürmberg, 91054 Erlangen, Germany; Department of Neurosurgery (J.H.), Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Faculty of Medicine (V.P.), University of Belgrade, and Clinic of Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center, University of Belgrade, 11 000 Belgrade, Serbia; Second Department of Medicine (M.Tót.), Faculty of Medicine, Semmelweis University, 1088 Budapest, Hungary; and School of Life Science and Technology (A.I.A.), Bandung Institute of Technology, 40132 Bandung, Ind
Guillaume
G
Assié
Medizinische Klinik und Poliklinik IV (L.G.P.-R., C.N., C.M.B., F.B., M.R.), Ludwig-Maximilians-Universität München, 80336 Munich, Germany; Department of Endocrinology (M.The., C.D., G.S.), Max Planck Institute of Psychiatry, 80804 Munich, Germany; Centre for Endocrinology (F.F., M.Kor.), William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, United Kingdom; Department of Biological Sciences (K.K., A.I.A., M.Kom.), Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Midori 226-8501 Yokohama, Japan; Section on Endocrinology and Genetics (C.A.S., F.R.F.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-2425; Division of Endocrinology (L.E.W., M.R.G.), Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, 21941-913 Rio de Janeiro, Brazil; Inserm Unité 1016 (G.A., J.B.), Centre National de la Recherche Scientifique Unité Mixte de Recherche, Institut Cochin, Université Paris Descartes, 75014 Paris, France; Department of Neuropathology (R.B.), Institute of Pathology and Neuropathology, Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Neurochirurgische Klinik (M.B.), Klinikum der Universität Erlangen, Friedrich-Alexander-Universität Erlangen-Nürmberg, 91054 Erlangen, Germany; Department of Neurosurgery (J.H.), Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Faculty of Medicine (V.P.), University of Belgrade, and Clinic of Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center, University of Belgrade, 11 000 Belgrade, Serbia; Second Department of Medicine (M.Tót.), Faculty of Medicine, Semmelweis University, 1088 Budapest, Hungary; and School of Life Science and Technology (A.I.A.), Bandung Institute of Technology, 40132 Bandung, Ind
Rudi
R
Beschorner
Medizinische Klinik und Poliklinik IV (L.G.P.-R., C.N., C.M.B., F.B., M.R.), Ludwig-Maximilians-Universität München, 80336 Munich, Germany; Department of Endocrinology (M.The., C.D., G.S.), Max Planck Institute of Psychiatry, 80804 Munich, Germany; Centre for Endocrinology (F.F., M.Kor.), William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, United Kingdom; Department of Biological Sciences (K.K., A.I.A., M.Kom.), Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Midori 226-8501 Yokohama, Japan; Section on Endocrinology and Genetics (C.A.S., F.R.F.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-2425; Division of Endocrinology (L.E.W., M.R.G.), Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, 21941-913 Rio de Janeiro, Brazil; Inserm Unité 1016 (G.A., J.B.), Centre National de la Recherche Scientifique Unité Mixte de Recherche, Institut Cochin, Université Paris Descartes, 75014 Paris, France; Department of Neuropathology (R.B.), Institute of Pathology and Neuropathology, Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Neurochirurgische Klinik (M.B.), Klinikum der Universität Erlangen, Friedrich-Alexander-Universität Erlangen-Nürmberg, 91054 Erlangen, Germany; Department of Neurosurgery (J.H.), Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Faculty of Medicine (V.P.), University of Belgrade, and Clinic of Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center, University of Belgrade, 11 000 Belgrade, Serbia; Second Department of Medicine (M.Tót.), Faculty of Medicine, Semmelweis University, 1088 Budapest, Hungary; and School of Life Science and Technology (A.I.A.), Bandung Institute of Technology, 40132 Bandung, Ind
Christina
C
Dimopoulou
Medizinische Klinik und Poliklinik IV (L.G.P.-R., C.N., C.M.B., F.B., M.R.), Ludwig-Maximilians-Universität München, 80336 Munich, Germany; Department of Endocrinology (M.The., C.D., G.S.), Max Planck Institute of Psychiatry, 80804 Munich, Germany; Centre for Endocrinology (F.F., M.Kor.), William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, United Kingdom; Department of Biological Sciences (K.K., A.I.A., M.Kom.), Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Midori 226-8501 Yokohama, Japan; Section on Endocrinology and Genetics (C.A.S., F.R.F.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-2425; Division of Endocrinology (L.E.W., M.R.G.), Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, 21941-913 Rio de Janeiro, Brazil; Inserm Unité 1016 (G.A., J.B.), Centre National de la Recherche Scientifique Unité Mixte de Recherche, Institut Cochin, Université Paris Descartes, 75014 Paris, France; Department of Neuropathology (R.B.), Institute of Pathology and Neuropathology, Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Neurochirurgische Klinik (M.B.), Klinikum der Universität Erlangen, Friedrich-Alexander-Universität Erlangen-Nürmberg, 91054 Erlangen, Germany; Department of Neurosurgery (J.H.), Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Faculty of Medicine (V.P.), University of Belgrade, and Clinic of Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center, University of Belgrade, 11 000 Belgrade, Serbia; Second Department of Medicine (M.Tót.), Faculty of Medicine, Semmelweis University, 1088 Budapest, Hungary; and School of Life Science and Technology (A.I.A.), Bandung Institute of Technology, 40132 Bandung, Ind
Michael
M
Buchfelder
Medizinische Klinik und Poliklinik IV (L.G.P.-R., C.N., C.M.B., F.B., M.R.), Ludwig-Maximilians-Universität München, 80336 Munich, Germany; Department of Endocrinology (M.The., C.D., G.S.), Max Planck Institute of Psychiatry, 80804 Munich, Germany; Centre for Endocrinology (F.F., M.Kor.), William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, United Kingdom; Department of Biological Sciences (K.K., A.I.A., M.Kom.), Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Midori 226-8501 Yokohama, Japan; Section on Endocrinology and Genetics (C.A.S., F.R.F.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-2425; Division of Endocrinology (L.E.W., M.R.G.), Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, 21941-913 Rio de Janeiro, Brazil; Inserm Unité 1016 (G.A., J.B.), Centre National de la Recherche Scientifique Unité Mixte de Recherche, Institut Cochin, Université Paris Descartes, 75014 Paris, France; Department of Neuropathology (R.B.), Institute of Pathology and Neuropathology, Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Neurochirurgische Klinik (M.B.), Klinikum der Universität Erlangen, Friedrich-Alexander-Universität Erlangen-Nürmberg, 91054 Erlangen, Germany; Department of Neurosurgery (J.H.), Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Faculty of Medicine (V.P.), University of Belgrade, and Clinic of Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center, University of Belgrade, 11 000 Belgrade, Serbia; Second Department of Medicine (M.Tót.), Faculty of Medicine, Semmelweis University, 1088 Budapest, Hungary; and School of Life Science and Technology (A.I.A.), Bandung Institute of Technology, 40132 Bandung, Ind
Vera
V
Popovic
Medizinische Klinik und Poliklinik IV (L.G.P.-R., C.N., C.M.B., F.B., M.R.), Ludwig-Maximilians-Universität München, 80336 Munich, Germany; Department of Endocrinology (M.The., C.D., G.S.), Max Planck Institute of Psychiatry, 80804 Munich, Germany; Centre for Endocrinology (F.F., M.Kor.), William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, United Kingdom; Department of Biological Sciences (K.K., A.I.A., M.Kom.), Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Midori 226-8501 Yokohama, Japan; Section on Endocrinology and Genetics (C.A.S., F.R.F.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-2425; Division of Endocrinology (L.E.W., M.R.G.), Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, 21941-913 Rio de Janeiro, Brazil; Inserm Unité 1016 (G.A., J.B.), Centre National de la Recherche Scientifique Unité Mixte de Recherche, Institut Cochin, Université Paris Descartes, 75014 Paris, France; Department of Neuropathology (R.B.), Institute of Pathology and Neuropathology, Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Neurochirurgische Klinik (M.B.), Klinikum der Universität Erlangen, Friedrich-Alexander-Universität Erlangen-Nürmberg, 91054 Erlangen, Germany; Department of Neurosurgery (J.H.), Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Faculty of Medicine (V.P.), University of Belgrade, and Clinic of Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center, University of Belgrade, 11 000 Belgrade, Serbia; Second Department of Medicine (M.Tót.), Faculty of Medicine, Semmelweis University, 1088 Budapest, Hungary; and School of Life Science and Technology (A.I.A.), Bandung Institute of Technology, 40132 Bandung, Ind
Christina M
CM
Berr
Medizinische Klinik und Poliklinik IV (L.G.P.-R., C.N., C.M.B., F.B., M.R.), Ludwig-Maximilians-Universität München, 80336 Munich, Germany; Department of Endocrinology (M.The., C.D., G.S.), Max Planck Institute of Psychiatry, 80804 Munich, Germany; Centre for Endocrinology (F.F., M.Kor.), William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, United Kingdom; Department of Biological Sciences (K.K., A.I.A., M.Kom.), Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Midori 226-8501 Yokohama, Japan; Section on Endocrinology and Genetics (C.A.S., F.R.F.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-2425; Division of Endocrinology (L.E.W., M.R.G.), Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, 21941-913 Rio de Janeiro, Brazil; Inserm Unité 1016 (G.A., J.B.), Centre National de la Recherche Scientifique Unité Mixte de Recherche, Institut Cochin, Université Paris Descartes, 75014 Paris, France; Department of Neuropathology (R.B.), Institute of Pathology and Neuropathology, Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Neurochirurgische Klinik (M.B.), Klinikum der Universität Erlangen, Friedrich-Alexander-Universität Erlangen-Nürmberg, 91054 Erlangen, Germany; Department of Neurosurgery (J.H.), Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Faculty of Medicine (V.P.), University of Belgrade, and Clinic of Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center, University of Belgrade, 11 000 Belgrade, Serbia; Second Department of Medicine (M.Tót.), Faculty of Medicine, Semmelweis University, 1088 Budapest, Hungary; and School of Life Science and Technology (A.I.A.), Bandung Institute of Technology, 40132 Bandung, Ind
Miklós
M
Tóth
Medizinische Klinik und Poliklinik IV (L.G.P.-R., C.N., C.M.B., F.B., M.R.), Ludwig-Maximilians-Universität München, 80336 Munich, Germany; Department of Endocrinology (M.The., C.D., G.S.), Max Planck Institute of Psychiatry, 80804 Munich, Germany; Centre for Endocrinology (F.F., M.Kor.), William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, United Kingdom; Department of Biological Sciences (K.K., A.I.A., M.Kom.), Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Midori 226-8501 Yokohama, Japan; Section on Endocrinology and Genetics (C.A.S., F.R.F.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-2425; Division of Endocrinology (L.E.W., M.R.G.), Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, 21941-913 Rio de Janeiro, Brazil; Inserm Unité 1016 (G.A., J.B.), Centre National de la Recherche Scientifique Unité Mixte de Recherche, Institut Cochin, Université Paris Descartes, 75014 Paris, France; Department of Neuropathology (R.B.), Institute of Pathology and Neuropathology, Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Neurochirurgische Klinik (M.B.), Klinikum der Universität Erlangen, Friedrich-Alexander-Universität Erlangen-Nürmberg, 91054 Erlangen, Germany; Department of Neurosurgery (J.H.), Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Faculty of Medicine (V.P.), University of Belgrade, and Clinic of Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center, University of Belgrade, 11 000 Belgrade, Serbia; Second Department of Medicine (M.Tót.), Faculty of Medicine, Semmelweis University, 1088 Budapest, Hungary; and School of Life Science and Technology (A.I.A.), Bandung Institute of Technology, 40132 Bandung, Ind
Arif Ibrahim
AI
Ardisasmita
Medizinische Klinik und Poliklinik IV (L.G.P.-R., C.N., C.M.B., F.B., M.R.), Ludwig-Maximilians-Universität München, 80336 Munich, Germany; Department of Endocrinology (M.The., C.D., G.S.), Max Planck Institute of Psychiatry, 80804 Munich, Germany; Centre for Endocrinology (F.F., M.Kor.), William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, United Kingdom; Department of Biological Sciences (K.K., A.I.A., M.Kom.), Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Midori 226-8501 Yokohama, Japan; Section on Endocrinology and Genetics (C.A.S., F.R.F.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-2425; Division of Endocrinology (L.E.W., M.R.G.), Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, 21941-913 Rio de Janeiro, Brazil; Inserm Unité 1016 (G.A., J.B.), Centre National de la Recherche Scientifique Unité Mixte de Recherche, Institut Cochin, Université Paris Descartes, 75014 Paris, France; Department of Neuropathology (R.B.), Institute of Pathology and Neuropathology, Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Neurochirurgische Klinik (M.B.), Klinikum der Universität Erlangen, Friedrich-Alexander-Universität Erlangen-Nürmberg, 91054 Erlangen, Germany; Department of Neurosurgery (J.H.), Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Faculty of Medicine (V.P.), University of Belgrade, and Clinic of Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center, University of Belgrade, 11 000 Belgrade, Serbia; Second Department of Medicine (M.Tót.), Faculty of Medicine, Semmelweis University, 1088 Budapest, Hungary; and School of Life Science and Technology (A.I.A.), Bandung Institute of Technology, 40132 Bandung, Ind
Jürgen
J
Honegger
Medizinische Klinik und Poliklinik IV (L.G.P.-R., C.N., C.M.B., F.B., M.R.), Ludwig-Maximilians-Universität München, 80336 Munich, Germany; Department of Endocrinology (M.The., C.D., G.S.), Max Planck Institute of Psychiatry, 80804 Munich, Germany; Centre for Endocrinology (F.F., M.Kor.), William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, United Kingdom; Department of Biological Sciences (K.K., A.I.A., M.Kom.), Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Midori 226-8501 Yokohama, Japan; Section on Endocrinology and Genetics (C.A.S., F.R.F.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-2425; Division of Endocrinology (L.E.W., M.R.G.), Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, 21941-913 Rio de Janeiro, Brazil; Inserm Unité 1016 (G.A., J.B.), Centre National de la Recherche Scientifique Unité Mixte de Recherche, Institut Cochin, Université Paris Descartes, 75014 Paris, France; Department of Neuropathology (R.B.), Institute of Pathology and Neuropathology, Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Neurochirurgische Klinik (M.B.), Klinikum der Universität Erlangen, Friedrich-Alexander-Universität Erlangen-Nürmberg, 91054 Erlangen, Germany; Department of Neurosurgery (J.H.), Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Faculty of Medicine (V.P.), University of Belgrade, and Clinic of Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center, University of Belgrade, 11 000 Belgrade, Serbia; Second Department of Medicine (M.Tót.), Faculty of Medicine, Semmelweis University, 1088 Budapest, Hungary; and School of Life Science and Technology (A.I.A.), Bandung Institute of Technology, 40132 Bandung, Ind
Jerôme
J
Bertherat
Medizinische Klinik und Poliklinik IV (L.G.P.-R., C.N., C.M.B., F.B., M.R.), Ludwig-Maximilians-Universität München, 80336 Munich, Germany; Department of Endocrinology (M.The., C.D., G.S.), Max Planck Institute of Psychiatry, 80804 Munich, Germany; Centre for Endocrinology (F.F., M.Kor.), William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, United Kingdom; Department of Biological Sciences (K.K., A.I.A., M.Kom.), Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Midori 226-8501 Yokohama, Japan; Section on Endocrinology and Genetics (C.A.S., F.R.F.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-2425; Division of Endocrinology (L.E.W., M.R.G.), Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, 21941-913 Rio de Janeiro, Brazil; Inserm Unité 1016 (G.A., J.B.), Centre National de la Recherche Scientifique Unité Mixte de Recherche, Institut Cochin, Université Paris Descartes, 75014 Paris, France; Department of Neuropathology (R.B.), Institute of Pathology and Neuropathology, Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Neurochirurgische Klinik (M.B.), Klinikum der Universität Erlangen, Friedrich-Alexander-Universität Erlangen-Nürmberg, 91054 Erlangen, Germany; Department of Neurosurgery (J.H.), Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Faculty of Medicine (V.P.), University of Belgrade, and Clinic of Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center, University of Belgrade, 11 000 Belgrade, Serbia; Second Department of Medicine (M.Tót.), Faculty of Medicine, Semmelweis University, 1088 Budapest, Hungary; and School of Life Science and Technology (A.I.A.), Bandung Institute of Technology, 40132 Bandung, Ind
Monica R
MR
Gadelha
Medizinische Klinik und Poliklinik IV (L.G.P.-R., C.N., C.M.B., F.B., M.R.), Ludwig-Maximilians-Universität München, 80336 Munich, Germany; Department of Endocrinology (M.The., C.D., G.S.), Max Planck Institute of Psychiatry, 80804 Munich, Germany; Centre for Endocrinology (F.F., M.Kor.), William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, United Kingdom; Department of Biological Sciences (K.K., A.I.A., M.Kom.), Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Midori 226-8501 Yokohama, Japan; Section on Endocrinology and Genetics (C.A.S., F.R.F.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-2425; Division of Endocrinology (L.E.W., M.R.G.), Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, 21941-913 Rio de Janeiro, Brazil; Inserm Unité 1016 (G.A., J.B.), Centre National de la Recherche Scientifique Unité Mixte de Recherche, Institut Cochin, Université Paris Descartes, 75014 Paris, France; Department of Neuropathology (R.B.), Institute of Pathology and Neuropathology, Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Neurochirurgische Klinik (M.B.), Klinikum der Universität Erlangen, Friedrich-Alexander-Universität Erlangen-Nürmberg, 91054 Erlangen, Germany; Department of Neurosurgery (J.H.), Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Faculty of Medicine (V.P.), University of Belgrade, and Clinic of Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center, University of Belgrade, 11 000 Belgrade, Serbia; Second Department of Medicine (M.Tót.), Faculty of Medicine, Semmelweis University, 1088 Budapest, Hungary; and School of Life Science and Technology (A.I.A.), Bandung Institute of Technology, 40132 Bandung, Ind
Felix
F
Beuschlein
Medizinische Klinik und Poliklinik IV (L.G.P.-R., C.N., C.M.B., F.B., M.R.), Ludwig-Maximilians-Universität München, 80336 Munich, Germany; Department of Endocrinology (M.The., C.D., G.S.), Max Planck Institute of Psychiatry, 80804 Munich, Germany; Centre for Endocrinology (F.F., M.Kor.), William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, United Kingdom; Department of Biological Sciences (K.K., A.I.A., M.Kom.), Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Midori 226-8501 Yokohama, Japan; Section on Endocrinology and Genetics (C.A.S., F.R.F.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-2425; Division of Endocrinology (L.E.W., M.R.G.), Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, 21941-913 Rio de Janeiro, Brazil; Inserm Unité 1016 (G.A., J.B.), Centre National de la Recherche Scientifique Unité Mixte de Recherche, Institut Cochin, Université Paris Descartes, 75014 Paris, France; Department of Neuropathology (R.B.), Institute of Pathology and Neuropathology, Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Neurochirurgische Klinik (M.B.), Klinikum der Universität Erlangen, Friedrich-Alexander-Universität Erlangen-Nürmberg, 91054 Erlangen, Germany; Department of Neurosurgery (J.H.), Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Faculty of Medicine (V.P.), University of Belgrade, and Clinic of Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center, University of Belgrade, 11 000 Belgrade, Serbia; Second Department of Medicine (M.Tót.), Faculty of Medicine, Semmelweis University, 1088 Budapest, Hungary; and School of Life Science and Technology (A.I.A.), Bandung Institute of Technology, 40132 Bandung, Ind
Günter
G
Stalla
Medizinische Klinik und Poliklinik IV (L.G.P.-R., C.N., C.M.B., F.B., M.R.), Ludwig-Maximilians-Universität München, 80336 Munich, Germany; Department of Endocrinology (M.The., C.D., G.S.), Max Planck Institute of Psychiatry, 80804 Munich, Germany; Centre for Endocrinology (F.F., M.Kor.), William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, United Kingdom; Department of Biological Sciences (K.K., A.I.A., M.Kom.), Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Midori 226-8501 Yokohama, Japan; Section on Endocrinology and Genetics (C.A.S., F.R.F.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-2425; Division of Endocrinology (L.E.W., M.R.G.), Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, 21941-913 Rio de Janeiro, Brazil; Inserm Unité 1016 (G.A., J.B.), Centre National de la Recherche Scientifique Unité Mixte de Recherche, Institut Cochin, Université Paris Descartes, 75014 Paris, France; Department of Neuropathology (R.B.), Institute of Pathology and Neuropathology, Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Neurochirurgische Klinik (M.B.), Klinikum der Universität Erlangen, Friedrich-Alexander-Universität Erlangen-Nürmberg, 91054 Erlangen, Germany; Department of Neurosurgery (J.H.), Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Faculty of Medicine (V.P.), University of Belgrade, and Clinic of Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center, University of Belgrade, 11 000 Belgrade, Serbia; Second Department of Medicine (M.Tót.), Faculty of Medicine, Semmelweis University, 1088 Budapest, Hungary; and School of Life Science and Technology (A.I.A.), Bandung Institute of Technology, 40132 Bandung, Ind
Masayuki
M
Komada
Medizinische Klinik und Poliklinik IV (L.G.P.-R., C.N., C.M.B., F.B., M.R.), Ludwig-Maximilians-Universität München, 80336 Munich, Germany; Department of Endocrinology (M.The., C.D., G.S.), Max Planck Institute of Psychiatry, 80804 Munich, Germany; Centre for Endocrinology (F.F., M.Kor.), William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, United Kingdom; Department of Biological Sciences (K.K., A.I.A., M.Kom.), Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Midori 226-8501 Yokohama, Japan; Section on Endocrinology and Genetics (C.A.S., F.R.F.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-2425; Division of Endocrinology (L.E.W., M.R.G.), Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, 21941-913 Rio de Janeiro, Brazil; Inserm Unité 1016 (G.A., J.B.), Centre National de la Recherche Scientifique Unité Mixte de Recherche, Institut Cochin, Université Paris Descartes, 75014 Paris, France; Department of Neuropathology (R.B.), Institute of Pathology and Neuropathology, Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Neurochirurgische Klinik (M.B.), Klinikum der Universität Erlangen, Friedrich-Alexander-Universität Erlangen-Nürmberg, 91054 Erlangen, Germany; Department of Neurosurgery (J.H.), Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Faculty of Medicine (V.P.), University of Belgrade, and Clinic of Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center, University of Belgrade, 11 000 Belgrade, Serbia; Second Department of Medicine (M.Tót.), Faculty of Medicine, Semmelweis University, 1088 Budapest, Hungary; and School of Life Science and Technology (A.I.A.), Bandung Institute of Technology, 40132 Bandung, Ind
Márta
M
Korbonits
Medizinische Klinik und Poliklinik IV (L.G.P.-R., C.N., C.M.B., F.B., M.R.), Ludwig-Maximilians-Universität München, 80336 Munich, Germany; Department of Endocrinology (M.The., C.D., G.S.), Max Planck Institute of Psychiatry, 80804 Munich, Germany; Centre for Endocrinology (F.F., M.Kor.), William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, United Kingdom; Department of Biological Sciences (K.K., A.I.A., M.Kom.), Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Midori 226-8501 Yokohama, Japan; Section on Endocrinology and Genetics (C.A.S., F.R.F.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-2425; Division of Endocrinology (L.E.W., M.R.G.), Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, 21941-913 Rio de Janeiro, Brazil; Inserm Unité 1016 (G.A., J.B.), Centre National de la Recherche Scientifique Unité Mixte de Recherche, Institut Cochin, Université Paris Descartes, 75014 Paris, France; Department of Neuropathology (R.B.), Institute of Pathology and Neuropathology, Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Neurochirurgische Klinik (M.B.), Klinikum der Universität Erlangen, Friedrich-Alexander-Universität Erlangen-Nürmberg, 91054 Erlangen, Germany; Department of Neurosurgery (J.H.), Eberhard Karls University Tübingen, 72076 Tübingen, Germany; Faculty of Medicine (V.P.), University of Belgrade, and Clinic of Endocrinology, Diabetes and Metabolic Diseases, University Clinical Center, University of Belgrade, 11 000 Belgrade, Serbia; Second Department of Medicine (M.Tót.), Faculty of Medicine, Semmelweis University, 1088 Budapest, Hungary; and School of Life Science and Technology (A.I.A.), Bandung Institute of Technology, 40132 Bandung, Ind
Martin
M
Reincke
D049913:ACTH-Secreting Pituitary Adenoma / Q000453:epidemiology / Q000235:genetics*; D000236:Adenoma / Q000453:epidemiology / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000818:Animals; D019556:COS Cells; D002648:Child; D002522:Chlorocebus aethiops; D004252:DNA Mutational Analysis; D010450:Endopeptidases / Q000235:genetics*; D056827:Endosomal Sorting Complexes Required for Transport / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D006367:HeLa Cells; D006801:Humans; D008297:Male; D051379:Mice; D008875:Middle Aged; D009154:Mutation; D047748:Pituitary ACTH Hypersecretion / Q000453:epidemiology / Q000235:genetics*; D012189:Retrospective Studies; D014407:Tumor Cells, Cultured; D043222:Ubiquitin Thiolesterase / Q000235:genetics*; D055815:Young Adult
D056827:Endosomal Sorting Complexes Required for Transport; D010450:Endopeptidases; C541534:USP8 protein, human; D043222:Ubiquitin Thiolesterase