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Angelica Amorim Amato Department of Pharmaceutical Sciences, University of Brasilia, Brasilia, Brazil
Department of Developmental and Cell Biology, University of California, Irvine, California, USA

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Hailey Brit Wheeler Department of Developmental and Cell Biology, University of California, Irvine, California, USA

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Bruce Blumberg Department of Developmental and Cell Biology, University of California, Irvine, California, USA
Department of Pharmaceutical Sciences, University of California, Irvine, California, USA
Department of Biomedical Engineering, University of California, Irvine, California, USA

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screening approaches for EDCs should include a wider range of cellular signaling pathways. This has been extensively reviewed elsewhere ( 52 ) and is beyond the scope of this review. Endocrine-disrupting chemicals as obesogens The term ‘obesogen’ was

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-20-0578
Volume/Issue:
Volume 10: Issue 2
Open access
Sanna Mustaniemi Public Health Promotion Unit, National Institute for Health and Welfare, Helsinki, Finland
PEDEGO Research Unit, MRC Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland

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Marja Vääräsmäki Public Health Promotion Unit, National Institute for Health and Welfare, Helsinki, Finland
PEDEGO Research Unit, MRC Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland

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Johan G Eriksson Department of General Practice and Primary Health Care, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Folkhälsan Research Centre, Helsinki, Finland

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Mika Gissler Information Services Department, National Institute for Health and Welfare, Helsinki, Finland
Division of Family Medicine, Department of Neurobiology, Care Sciences and Society, Karolinska Institute, Stockholm, Sweden

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Hannele Laivuori Medical and Clinical Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Department of Obstetrics and Gynaecology, Tampere University Hospital, Tampere, Finland
Faculty of Medicine and Life Sciences, University of Tampere, Tampere, Finland
Institute for Molecular Medicine Finland, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland

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Hilkka Ijäs Public Health Promotion Unit, National Institute for Health and Welfare, Helsinki, Finland
PEDEGO Research Unit, MRC Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland

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Aini Bloigu PEDEGO Research Unit, MRC Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland

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Eero Kajantie Public Health Promotion Unit, National Institute for Health and Welfare, Helsinki, Finland
PEDEGO Research Unit, MRC Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland
Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

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Laure Morin-Papunen PEDEGO Research Unit, MRC Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland

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singleton pregnancy ( N  = 1115) were recruited in delivery units before delivery, and the next consenting mother without GDM ( N  = 1125) giving birth in the same hospital was recruited as a control. The spouses and new-borns of both GDM and non

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0076
Volume/Issue:
Volume 7: Issue 7
Open access
J A Tamblyn Institute of Metabolism and Systems Research (IMSR), College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK
Birmingham Women’s Foundation Hospital, Edgbaston, Birmingham, UK
Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK

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C Jenkinson Birmingham Women’s Foundation Hospital, Edgbaston, Birmingham, UK

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D P Larner Birmingham Women’s Foundation Hospital, Edgbaston, Birmingham, UK

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M Hewison Institute of Metabolism and Systems Research (IMSR), College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK
Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK

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M D Kilby Institute of Metabolism and Systems Research (IMSR), College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK
Birmingham Women’s Foundation Hospital, Edgbaston, Birmingham, UK
Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK

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therapeutic implications for the management of PET. Materials and methods Ethical approval Matched serum and urine samples were purchased from the SCOPE (Screening for Pregnancy Endpoints) Ireland study (Clinical Research Ethics Committee (REC) of

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0308
Volume/Issue:
Volume 7: Issue 1
Open access
Nella Augusta Greggio Endocrinology and Adolescence Unit, Department of Woman and Child Health, University of Padova, Padova, Italy

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Elisa Rossi CINECA – Interuniversity Consortium (Health Service), Bologna, Italy

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Silvia Calabria CORE srl – Collaborative Outcome Research, Bologna, Italy

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Alice Meneghin Endocrinology and Adolescence Unit, Department of Woman and Child Health, University of Padova, Padova, Italy

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Joaquin Gutierrez de Rubalcava Endocrinology and Adolescence Unit, Department of Woman and Child Health, University of Padova, Padova, Italy

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Carlo Piccinni CORE srl – Collaborative Outcome Research, Bologna, Italy

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Antonella Pedrini CORE srl – Collaborative Outcome Research, Bologna, Italy

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during screening for congenital hypothyroidism in new-borns, or in case of symptoms that are consistent with thyroid alterations, or also in case of additional visits for chronic conditions. It should be noticed that neonatal hyperthyrotropynemia can

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0066
Volume/Issue:
Volume 6: Issue 6
Open access
T P Parikh Program in Reproductive and Adult Endocrinology, National Institute of Child Health and Human Development, National Institutes of Health (NIH), Bethesda, Maryland, USA

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B Stolze Department of Laboratory Medicine, Clinical Center, NIH, Bethesda, Maryland, USA

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Y Ozarda Department of Medical Biochemistry, Faculty of Medicine, Uludag University, Bursa, Turkey

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J Jonklaas Division of Endocrinology and Metabolism, Department of Medicine, Georgetown University, Washington, District of Columbia, USA

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K Welsh Department of Laboratory Medicine, Clinical Center, NIH, Bethesda, Maryland, USA

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L Masika Department of Laboratory Medicine and Pathology/National Health Laboratory Service Walter Sisulu University, Mthatha, South Africa

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M Hill Program in Reproductive and Adult Endocrinology, National Institute of Child Health and Human Development, National Institutes of Health (NIH), Bethesda, Maryland, USA

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A DeCherney Program in Reproductive and Adult Endocrinology, National Institute of Child Health and Human Development, National Institutes of Health (NIH), Bethesda, Maryland, USA

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S J Soldin Department of Laboratory Medicine, Clinical Center, NIH, Bethesda, Maryland, USA
Division of Endocrinology and Metabolism, Department of Medicine, Georgetown University, Washington, District of Columbia, USA

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. Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia . Journal of Clinical Endocrinology and Metabolism 2004 89 3687 – 3693 . ( https://doi.org/10.1210/jc.2003

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0417
Volume/Issue:
Volume 7: Issue 12
Open access
Paul-Martin Holterhus Department of Pediatrics I, Pediatric Endocrinology and Diabetology, University Hospital of Schleswig-Holstein, UKSH, Campus Kiel and Christian Albrechts University, CAU, Kiel, Germany

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Alexandra Kulle Department of Pediatrics I, Pediatric Endocrinology and Diabetology, University Hospital of Schleswig-Holstein, UKSH, Campus Kiel and Christian Albrechts University, CAU, Kiel, Germany

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Anne-Marie Till Department of Pediatrics, Pediatric Hematology and Oncology, University Hospital of Schleswig-Holstein, UKSH, Campus Lübeck, Germany

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Caroline Stille Department of Pediatrics, Pediatric Hematology and Oncology, University Hospital of Schleswig-Holstein, UKSH, Campus Lübeck, Germany

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Tabea Lamprecht Department of Pediatrics I, Pediatric Endocrinology and Diabetology, University Hospital of Schleswig-Holstein, UKSH, Campus Kiel and Christian Albrechts University, CAU, Kiel, Germany

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Simon Vieth Department of Pediatrics I, Pediatric Hematology and Oncology, University Hospital of Schleswig-Holstein, UKSH, Campus Kiel and Christian-Albrechts-University, CAU, Kiel, Germany

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Melchior Lauten Department of Pediatrics, Pediatric Hematology and Oncology, University Hospital of Schleswig-Holstein, UKSH, Campus Lübeck, Germany

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://doi.org/10.1111/j.1365-2265.2006.02740.x ) 11 Peter M Janzen N Sander S Korsch E Riepe FG & Sander J . A case of 11beta-hydroxylase deficiency detected in a newborn screening program by second-tier LC-MS/MS . Hormone Research 2008 69 253

Article Type:
Research Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-23-0002
Volume/Issue:
Volume 12: Issue 10
Open access
Robert Rapaport Division of Pediatric Endocrinology & Diabetes, Mount Sinai Kravis Children’s Hospital and Icahn School of Medicine at Mount Sinai, New York, New York, USA

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Jan M Wit Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands

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Martin O Savage Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine & Dentistry, London, UK

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length >−2 SDS), absence of abnormal physical features and normal general screening investigations, normal body proportions and absence of major dysmorphic features ( 38 ). The components of ISS were critically appraised in two reviews by Wit et al

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-20-0585
Volume/Issue:
Volume 10: Issue 3
Open access
Bilal B Mughal CNRS/UMR7221, Muséum National d’Histoire Naturelle, Sorbonne Universités, Paris, France

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Jean-Baptiste Fini CNRS/UMR7221, Muséum National d’Histoire Naturelle, Sorbonne Universités, Paris, France

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Barbara A Demeneix CNRS/UMR7221, Muséum National d’Histoire Naturelle, Sorbonne Universités, Paris, France

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. Environmental Science and Technology 2006 40 3463 – 3473 . ( https://doi.org/10.1021/es052580b ) 10.1021/es052580b 401 Spliethoff HM Tao L Shaver SM Aldous KM Pass KA Kannan K Eadon GA . Use of newborn screening program blood spots for exposure

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-18-0029
Volume/Issue:
Volume 7: Issue 4
Open access
André Marques-Pinto Serviço de Endocrinologia, Departamento de Endocrinologia, Faculdade de Medicina da Universidade do Porto, Al. Prof. Hernâni Monteiro, 4200-319 Porto, Portugal

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Davide Carvalho Serviço de Endocrinologia, Departamento de Endocrinologia, Faculdade de Medicina da Universidade do Porto, Al. Prof. Hernâni Monteiro, 4200-319 Porto, Portugal
Serviço de Endocrinologia, Departamento de Endocrinologia, Faculdade de Medicina da Universidade do Porto, Al. Prof. Hernâni Monteiro, 4200-319 Porto, Portugal

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high levels of these substances (90, 91) . For these reasons, women of childbearing age, specifically those who are pregnant/breastfeeding, constitute a population of utmost importance regarding ED exposure. Likewise, newborns and children deserve

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-13-0036
Volume/Issue:
Volume 2: Issue 3
Open access
Luigi Laino Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Silvia Majore Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Nicoletta Preziosi Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Barbara Grammatico Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Carmelilia De Bernardo Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Salvatore Scommegna Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Anna Maria Rapone Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Giacinto Marrocco Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Irene Bottillo Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

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Paola Grammatico
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/conversions analysis Investigation for large deletions/conversions affecting the CYP21A2 gene was conduced as described by Lee et al . (10) . Multiplex ligation-dependent probe amplification (MLPA) analysis Screening for single and multi-exonic deletions

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-14-0085
Volume/Issue:
Volume 3: Issue 4
Open access