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Simone Martins de Castro Hospital Materno Infantil Presidente Vargas, Newborn Screening Referral Center, Porto Alegre, RS, Brazil
Department of Analysis, Universidade Federal do Rio Grande do Sul (UFRGS), School of Pharmacy, Porto Alegre, RS, Brazil

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Paloma Wiest Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil

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Poli Mara Spritzer Division of Endocrinology, Department of Physiology, Universidade Federal do Rio Grande do Sul (UFRGS), Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil

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Cristiane Kopacek Hospital Materno Infantil Presidente Vargas, Newborn Screening Referral Center, Porto Alegre, RS, Brazil
Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil
Department of Pediatrics, Universidade Federal do Rio Grande do Sul (UFRGS), Medical School, Porto Alegre, RS, Brazil

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classical CAH ranges from 1:7500 to 1:18,000 live births ( 12 ). However, the incidence varies from state to state ( 13 , 14 , 15 , 16 ). Screening for CAH aims to identify newborns most likely to be affected by the more severe forms of the disease

Article Type:
Research Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-23-0162
Volume/Issue:
Volume 12: Issue 12
Open access
Muriel Houang Laboratoire des Explorations Fonctionnelles Endocriniennes, Hôpital Armand Trousseau, AP-HP Sorbonne Université, Paris, France

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Thao Nguyen-Khoa Centre Régional de Dépistage Néonatal-Ile de France, Hôpital Necker-Enfants Malades, AP-HP Centre Université de Paris, Paris, France

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Thibaut Eguether Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, Paris, France
Département de Métabolomique Clinique, Hôpital Saint-Antoine, AP-HP Sorbonne Université, Paris, France

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Bettina Ribault Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, Paris, France
Département de Métabolomique Clinique, Hôpital Saint-Antoine, AP-HP Sorbonne Université, Paris, France

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Séverine Brabant Laboratoire d’Explorations Fonctionnelles, Hôpital Necker-Enfants Malades, AP-HP Centre Université de Paris, Paris, France

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Michel Polak Centre Régional de Dépistage Néonatal-Ile de France, Hôpital Necker-Enfants Malades, AP-HP Centre Université de Paris, Paris, France
Université de Paris, INSERM, Institut IMAGINE, Hôpital Necker-Enfants Malades, AP-HP, Paris, France

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Irène Netchine Laboratoire des Explorations Fonctionnelles Endocriniennes, Hôpital Armand Trousseau, AP-HP Sorbonne Université, Paris, France
Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, Paris, France
Hôpital Armand Trousseau, AP-HP Sorbonne Université, Paris, France

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Antonin Lamazière Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, Paris, France
Département de Métabolomique Clinique, Hôpital Saint-Antoine, AP-HP Sorbonne Université, Paris, France

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Introduction The newborn screening program (NBS) for congenital adrenal hyperplasia (CAH) presents a number of issues in the context of the prevention of life-threatening salt wasting crises and subsequent collapse. This neonatal period is

Article Type:
Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0101
Volume/Issue:
Volume 11: Issue 6
Open access
Chunyun Fu Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Medical Science Laboratory, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Department of pathology, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Shiyu Luo Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Yingfeng Li Medical Science Laboratory, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Department of pathology, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Qifei Li Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Xuehua Hu Medical Science Laboratory, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Mengting Li Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Yue Zhang Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Jiasun Su Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Xuyun Hu Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Yun Chen Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Jin Wang Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Bobo Xie Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Jingsi Luo Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Xin Fan Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Shaoke Chen Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China

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Yiping Shen Department of Genetic Metabolism, Children’s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People’s Republic of China
Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA

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Introduction Congenital hypothyroidism (CH) is one of the most common causes of intellectual disability and growth retardation with worldwide incidence ranging from 1:2000 to 1:4000 newborns ( 1 , 2 , 3 ). Newborn screening allows for early

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0289
Volume/Issue:
Volume 6: Issue 8
Open access
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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birth due to ambiguous genitalia, some affected boys were overlooked leading to unexplained death due to presumptive SW crises in several cases ( 13 ). For this reason, nationwide 17-hydroxyprogesterone (17-OHP) newborn screening was introduced in many

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0281
Volume/Issue:
Volume 8: Issue 2
Open access
Nikolina Zdraveska University Children’s Hospital Skopje, Faculty of Medicine, Skopje, Republic of Macedonia

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Maja Zdravkovska Institute of Patophysiology and Nuclear Medicine, Faculty of Medicine, Skopje, Republic of Macedonia

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Violeta Anastasovska University Children’s Hospital Skopje, Faculty of Medicine, Skopje, Republic of Macedonia

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Elena Sukarova-Angelovska University Children’s Hospital Skopje, Faculty of Medicine, Skopje, Republic of Macedonia

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Mirjana Kocova University Children’s Hospital Skopje, Faculty of Medicine, Skopje, Republic of Macedonia

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etiology of CH and determine the prevalence of transient hypothyroidism among CH children diagnosed in the newborn period after the neonatal screening. Neonatal screening for CH in the Republic of Macedonia was introduced in 2002 as a pilot project and

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0332
Volume/Issue:
Volume 7: Issue 2
Open access
Anna Liori Division of Endocrinology, Department of Internal Medicine, University of Patras, School of Health Sciences, Patras, Greece

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Damaskini Polychroni Division of Endocrinology, Department of Internal Medicine, University of Patras, School of Health Sciences, Patras, Greece

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Georgios K Markantes Division of Endocrinology, Department of Internal Medicine, University of Patras, School of Health Sciences, Patras, Greece

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Maria Stamou Division of Endocrinology, Department of Internal Medicine, University of Patras, School of Health Sciences, Patras, Greece

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Sarantis Livadas Endocrine Unit, Athens Medical Centre, Athens, Greece

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George Mastorakos Unit of Endocrinology, Diabetes Mellitus and Metabolism, Aretaieion Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece

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Neoklis Georgopoulos Division of Endocrinology, Department of Internal Medicine, University of Patras, School of Health Sciences, Patras, Greece

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newborns) has never been evaluated. To answer this question with the goal to identify the best practices to support refugee women undergoing pregnancy and delivery under such difficult conditions, we conducted a study in pregnant women who were residents of

Article Type:
Research Article
Collections:
Bone and Mineral Metabolism
DOI:
https://doi.org/10.1530/EC-21-0412
Volume/Issue:
Volume 11: Issue 1
Open access
Luca Persani Division of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

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Biagio Cangiano Division of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

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Marco Bonomi Division of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

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achieved by the single measurement of TSH. In this respect, the missed diagnosis of CeH represents the most important false-negative result of the ‘reflex TSH’ strategy that is frequently applied for the screening of thyroid function either in newborns or

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-18-0515
Volume/Issue:
Volume 8: Issue 2
Open access
Sandra R Dahl Hormone Laboratory, Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway

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Ingrid Nermoen Institute of Clinical Medicine, University of Oslo, Oslo, Norway
Division of Medicine, Akershus University Hospital, Lørenskog, Norway

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Ingeborg Brønstad National Centre for Ultrasound in Gastroenterology, Haukeland University Hospital, Bergen, Norway
Department of Clinical Medicine, University of Bergen, Bergen, Norway

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Eystein S Husebye Department of Clinical Science, University of Bergen, Bergen, Norway
K.G. Jebsen-Center for Autoimmune Diseases, University of Bergen, Bergen, Norway
Department of Medicine, Haukeland University Hospital, Bergen, Norway

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Kristian Løvås Department of Clinical Science, University of Bergen, Bergen, Norway
K.G. Jebsen-Center for Autoimmune Diseases, University of Bergen, Bergen, Norway
Department of Medicine, Haukeland University Hospital, Bergen, Norway

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Per M Thorsby Hormone Laboratory, Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway

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puberty with accelerated bone age will ensue. The prevalence of 21OHD shows large ethnic and geographic differences; the worldwide incidence is approximately 1/15,000 based on newborn screening ( 3 ). The aim of the medical treatment is to provide

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0453
Volume/Issue:
Volume 7: Issue 12
Open access
Kinnaree Sorapipatcharoen Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Thipwimol Tim-Aroon Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Pat Mahachoklertwattana Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Wasun Chantratita Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Nareenart Iemwimangsa Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Insee Sensorn Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Bhakbhoom Panthan Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Poramate Jiaranai Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Saisuda Noojarern Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Patcharin Khlairit Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Sarunyu Pongratanakul Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Chittiwat Suprasongsin Research Center, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Manassawee Korwutthikulrangsri Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Chutintorn Sriphrapradang Department of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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Preamrudee Poomthavorn Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

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either confirmatory test for positive newborn screening (NBS) or thyroid function tests for other signs and symptoms suggesting CH. Patients with transient CH secondary to maternal conditions, sick euthyroid syndrome and obvious syndromic features were

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0411
Volume/Issue:
Volume 9: Issue 11
Open access
E Kohva Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland

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P J Miettinen Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

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S Taskinen Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Department of Pediatric Surgery, Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

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M Hero Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

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A Tarkkanen Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland

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T Raivio Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland

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expectedly the most common cause of 46,XX DSD. After the implementation of the newborn screening in Finland in 2015, six new CAH patients have been diagnosed by it. We anticipate that screening leads to better diagnostic yield and conceivably better care for

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0070
Volume/Issue:
Volume 7: Issue 4
Open access