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Maria Angela D'amico Section of Human Morphology, Department of Medicine and Aging Sciences, G. d'Annunzio University of Chieti–Pescara, Via Dei Vestini 31, 66013 Chieti, Italy

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Barbara Ghinassi Section of Human Morphology, Department of Medicine and Aging Sciences, G. d'Annunzio University of Chieti–Pescara, Via Dei Vestini 31, 66013 Chieti, Italy

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Pascal Izzicupo Section of Human Morphology, Department of Medicine and Aging Sciences, G. d'Annunzio University of Chieti–Pescara, Via Dei Vestini 31, 66013 Chieti, Italy

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Lamberto Manzoli Section of Human Morphology, Department of Medicine and Aging Sciences, G. d'Annunzio University of Chieti–Pescara, Via Dei Vestini 31, 66013 Chieti, Italy

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A Di Baldassarre Section of Human Morphology, Department of Medicine and Aging Sciences, G. d'Annunzio University of Chieti–Pescara, Via Dei Vestini 31, 66013 Chieti, Italy

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phosphorylation levels are inversely proportional to extracellular calcium concentration (4) . Chromogranin A processing and derived peptides The human CgA gene is located on chromosome 14q32.12, spans 12 192 bp, and is organized in eight exons and seven

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Nathalia Liberatoscioli Menezes Andrade Unidade de Endocrinologia Genetica (LIM 25), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brasil

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Mariana Ferreira de Assis Funari Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil

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Alexsandra Christianne Malaquias Departamento de Pediatria, Faculdade de Ciencias Medicas da Santa Casa de Sao Paulo, Sao Paulo, Brasil

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Paulo Ferrez Collett-Solberg Disciplina de Endocrinologia, Departamento de Medicina Interna, Faculdade de Ciências Medicas, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, Brasil

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Nathalia L R A Gomes Serviço de Endocrinologia, Unidade de Crescimento, Santa Casa de Belo Horizonte, Belo Horizonte, Minas Gerais, Brasil

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Renata Scalco Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil
Departamento de Medicina, Faculdade de Ciencias Medicas da Santa Casa de Sao Paulo, Sao Paulo, Brasil

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Naiara Castelo Branco Dantas Unidade de Endocrinologia Genetica (LIM 25), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brasil

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Raissa C Rezende Unidade de Endocrinologia Genetica (LIM 25), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brasil

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Angelica M F P Tiburcio Serviço de Endocrinologia, Unidade de Crescimento, Santa Casa de Belo Horizonte, Belo Horizonte, Minas Gerais, Brasil

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Micheline A R Souza Serviço de Endocrinologia do Instituto de Puericultura e Pediatria Martagao Gesteira/Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brasil

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Bruna L Freire Unidade de Endocrinologia Genetica (LIM 25), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brasil
Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil

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Ana C V Krepischi Centro de Pesquisa em Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de Sao Paulo, São Paulo, Brasil

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Carlos Alberto Longui Departamento de Pediatria, Faculdade de Ciencias Medicas da Santa Casa de Sao Paulo, Sao Paulo, Brasil

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Antonio Marcondes Lerario Division of Metabolism, Endocrinology and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA

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Ivo J P Arnhold Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil

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Alexander A L Jorge Unidade de Endocrinologia Genetica (LIM 25), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brasil
Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil

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Gabriela Andrade Vasques Unidade de Endocrinologia Genetica (LIM 25), Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo (USP), Sao Paulo, Brasil
Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular (LIM42), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo (USP), Sao Paulo, Brasil

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growth impairment and are classified as having idiopathic short stature (ISS) ( 1 ). This term is widely used but this strict definition excludes children with evidence of systemic, endocrine, nutritional or chromosomal abnormalities, and those born small

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K L Gatford School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

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G K Heinemann School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

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S D Thompson School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

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J V Zhang School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

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S Buckberry School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

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J A Owens School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

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G A Dekker School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

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C T Roberts School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

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on behalf of the SCOPE Consortium School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

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decreased IGF1 action in these individuals, as absence of IGF1 signalling through IGF1R reduces postnatal growth (34) , and IGF1 deficiency predicts longevity (35) . IGF2 is located in an imprinted gene cluster on chromosome 11p15.5 ( Fig. 1 ), containing

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Rebeca Esquivel-Zuniga Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA

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Alan D Rogol Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA

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receptor, GPR54 and kisspeptin/neurokinin B/dynorphin neurons (KNDy), which integrate these signals and metabolic ones to either stimulate or inhibit GnRH release ( 30 ). Most studies show that this constellation of neuroendocrine alterations is more

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Lin Ji Department of Cell Biology & Medical Genetics, School of Medicine, Shenzhen University, Shenzhen, China

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Huan-Tong Wu Beijing Engineering Research Center of Food Environment and Health, College of Life & Environmental Sciences, Minzu University of China, Beijing, China

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Xiao-Yan Qin Beijing Engineering Research Center of Food Environment and Health, College of Life & Environmental Sciences, Minzu University of China, Beijing, China

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Rongfeng Lan Department of Cell Biology & Medical Genetics, School of Medicine, Shenzhen University, Shenzhen, China

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bovine, human, mouse and rat, showing more than 90% similarity among these species ( 9 , 16 , 17 , 18 ). Moreover, anglerfish CPE shares approximately 80% protein sequence homology with mammalian CPE ( 19 ). Cpe gene is localized on chromosome 4q32

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Emmi Naskali Department of Dermatology, Allergology and Venereology, University of Helsinki, and Helsinki University Central Hospital, Helsinki, Finland

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Katja Dettmer Institute of Functional Genomics, University of Regensburg, Regensburg, Germany

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Peter J Oefner Institute of Functional Genomics, University of Regensburg, Regensburg, Germany

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Pedro A B Pereira Institute of Biotechnology, DNA Sequencing and Genomics Laboratory, University of Helsinki, Helsinki, Finland

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Kai Krohn Clinical Research Institute HUCH Ltd, Biomedicum Helsinki 1, Helsinki, Finland

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Petri Auvinen Institute of Biotechnology, DNA Sequencing and Genomics Laboratory, University of Helsinki, Helsinki, Finland

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Annamari Ranki Department of Dermatology, Allergology and Venereology, University of Helsinki, and Helsinki University Central Hospital, Helsinki, Finland

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Nicolas Kluger Department of Dermatology, Allergology and Venereology, University of Helsinki, and Helsinki University Central Hospital, Helsinki, Finland

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( Autoimmune Regulator ) gene located on chromosome 21 (21q22.3) ( 1 , 2 , 3 , 4 ). The disease predisposes to chronic mucocutaneous candidiasis and various autoimmune disorders that impair quality of life ( 1 ). AIRE is normally expressed in thymus, where

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Angela Köninger Department of Gynecology and Obstetrics, University of Duisburg-Essen, Essen, Germany

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Antonella Iannaccone Department of Gynecology and Obstetrics, University of Duisburg-Essen, Essen, Germany

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Ensar Hajder Department of Gynecology and Obstetrics, University of Duisburg-Essen, Essen, Germany

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Mirjam Frank Institute for Medical Informatics, Biometry and Epidemiology (IMIBE), University of Duisburg-Essen, Essen, Germany

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Boerge Schmidt Institute for Medical Informatics, Biometry and Epidemiology (IMIBE), University of Duisburg-Essen, Essen, Germany

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Ekkehard Schleussner Department of Obstetrics, Jena University Hospital, Jena, Germany

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Rainer Kimmig Department of Gynecology and Obstetrics, University of Duisburg-Essen, Essen, Germany

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Alexandra Gellhaus Department of Gynecology and Obstetrics, University of Duisburg-Essen, Essen, Germany

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Hans Dieplinger Division of Genetic Epidemiology, Medical University of Innsbruck, Innsbruck, Austria

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trimester of pregnancy in patients with GDM ( 20 ). The afamin gene is a member of the albumin gene family localized on chromosome 4 ( 21 ). Afamin has been postulated to bind vitamin E in extravascular fluids ( 22 ). Vitamin E is an important antioxidant

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Stefan Riedl Division of Pediatric Pulmology, Allergology and Endocrinology, Department of Pediatrics, Medical University of Vienna, Vienna, Austria
Department of Pediatrics, St. Anna Kinderspital, Medical University of Vienna, Vienna, Austria

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Friedrich-Wilhelm Röhl Department of Biometrics, Otto von Guericke Universität Magdeburg, Magdeburg, Germany

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Walter Bonfig Department of Pediatrics, Klinikum Wels-Grieskirchen, Wels, Austria

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Jürgen Brämswig Department of Pediatrics, Pediatric Endocrinology, Westfälische Wilhelmsuniversität Münster, Münster, Germany

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Annette Richter-Unruh Department of Pediatrics, Pediatric Endocrinology, Westfälische Wilhelmsuniversität Münster, Münster, Germany

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Susanne Fricke-Otto Department of Pediatrics, Pediatric Endocrinology, Helios Klinikum Krefeld, Krefeld, Germany

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Markus Bettendorf Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Ruprecht-Karls-Universität Heidelberg, Heidelberg, Germany

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Felix Riepe Pediatric Endocrinology, Kronshagen, Kiel, Germany

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Gernot Kriegshäuser Institute of Clinical Chemistry and Laboratory Medicine, General Hospital Steyr, Steyr, Austria

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Eckhard Schönau Department of Pediatrics, Pediatric Endocrinology, Universität zu Köln, Cologne, Germany

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Gertrud Even Department of Pediatrics, Pediatric Endocrinology, Universität zu Köln, Cologne, Germany

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Berthold Hauffa Department of Pediatric Endocrinology, University of Duisburg-Essen, Essen, Germany

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Helmuth-Günther Dörr Department of Pediatrics, Pediatric Endocrinology, Friedrich Alexander Universität Erlangen, Erlangen, Germany

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Reinhard W Holl Institute of Epidemiology and Medical Biometry (ZIBMT), University of Ulm, Ulm, Germany

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Klaus Mohnike Department of Pediatrics, Pediatric Endocrinology, Otto von Guericke Universität Magdeburg, Magdeburg, Germany

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the AQUAPE CAH Study Group
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lies on chromosome 6p in close proximity to its pseudogene ( CYP21A2P ), which is 96–98% homologous. Up to 75% of CAH mutations arise from the pseudogene by meiotic non-disjunction. Deletions (del) and CYP21A2/CYP21A2P chimeric genes account for the

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Letícia Ribeiro Oliveira Interdisciplinary Group for Studies of Sex Determination and Differentiation (GIEDDS), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil
Department of Pediatrics, Federal University of Uberlandia (UFU), Uberlandia, Minas Gerais, Brazil

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Carlos Alberto Longui Pediatric Endocrinology Unit, School of Medical Sciences, Irmandade da Santa Casa de Misericordia de Sao Paulo, Sao Paulo, Brazil

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Guilherme Guaragna-Filho Interdisciplinary Group for Studies of Sex Determination and Differentiation (GIEDDS), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil
Department of Pediatrics, Federal University of Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil

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José Luiz Costa School of Pharmaceutical Sciences, UNICAMP, Campinas, Sao Paulo, Brazil
Poison Control Center, FCM, UNICAMP, Campinas, Sao Paulo, Brazil

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Rafael Lanaro Poison Control Center, FCM, UNICAMP, Campinas, Sao Paulo, Brazil

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David Antônio Silva Laboratory of Physiology, Division of Clinical Pathology, Clinical Hospital, UNICAMP, Campinas, Sao Paulo, Brazil

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Maria Izabel Chiamolera Fleury Group, Sao Paulo, Brazil

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Maricilda Palandi de Mello Interdisciplinary Group for Studies of Sex Determination and Differentiation (GIEDDS), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil
Laboratory of Human Molecular Genetics, Center for Molecular Biology and Genetics Engineering (CBMEG), UNICAMP, Campinas, Sao Paulo, Brazil

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André Moreno Morcillo Department of Pediatrics, FCM, UNICAMP, Campinas, Sao Paulo, Brazil

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Andrea Trevas Maciel-Guerra Interdisciplinary Group for Studies of Sex Determination and Differentiation (GIEDDS), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil
Department of Medical Genetics and Genomic Medicine, FCM, UNICAMP, Campinas, Sao Paulo, Brazil

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Gil Guerra-Junior Interdisciplinary Group for Studies of Sex Determination and Differentiation (GIEDDS), School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil
Department of Pediatrics, FCM, UNICAMP, Campinas, Sao Paulo, Brazil

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with DSD ( 2 ). One of the most important challenge is the measurement of testosterone concentration ( 9 , 10 ), especially in the investigation of 46,XY DSD cases. DSD are congenital conditions in which chromosomal, gonadal or anatomical sex is

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Ashley K Clift Department of Surgery and Cancer, Imperial College London, London, UK

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Oskar Kornasiewicz Department of Surgery and Cancer, Imperial College London, London, UK
Department of Surgery, Warsaw Medical University, Warsaw, Poland

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Panagiotis Drymousis Department of Surgery and Cancer, Imperial College London, London, UK

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Omar Faiz Department of Surgery, St Mark’s Hospital, London, UK

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Harpreet S Wasan Department of Surgery and Cancer, Imperial College London, London, UK

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James M Kinross Department of Surgery and Cancer, Imperial College London, London, UK

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Thomas Cecil Peritoneal Malignancy Unit, Basingstoke and North Hampshire Hospital, Basingstoke, UK

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Andrea Frilling Department of Surgery and Cancer, Imperial College London, London, UK

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with expression of chromogranin A and B, synaptophysin, and allelic loss of chromosomes 11q, 16q and 18q has been observed in GCC, similar to NEN arising from the jejunum/ileum ( 7 ). However, their proliferation index as measured by Ki67 is often much

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