Filter

Refine by collections

Refine by date

—
  • Print
  • Save

Search Results

You are looking at 1 - 10 of 235 items for :

Clear All
Julia Beckhaus Department of Pediatrics and Pediatric Hematology/Oncology, University Children’s Hospital, Carl von Ossietzky University, Klinikum Oldenburg AöR, Oldenburg, Germany
Division of Epidemiology and Biometry, Carl von Ossietzky University, Oldenburg, Germany

Search for other papers by Julia Beckhaus in
Google Scholar
PubMed Close
,
Svenja Boekhoff Department of Pediatrics and Pediatric Hematology/Oncology, University Children’s Hospital, Carl von Ossietzky University, Klinikum Oldenburg AöR, Oldenburg, Germany

Search for other papers by Svenja Boekhoff in
Google Scholar
PubMed Close
,
Katrin Scheinemann Pediatric Hematology-Oncology Center, Children’s Hospital of Eastern Switzerland, St. Gallen, Switzerland
Faculty of Health Sciences and Medicine, University of Lucerne, Lucerne, Switzerland
Department of Pediatrics, McMaster Children’s Hospital and McMaster University, Hamilton, Ontario, Canada

Search for other papers by Katrin Scheinemann in
Google Scholar
PubMed Close
,
Freimut H Schilling Department of Pediatrics, Division of Pediatric Hematology and Oncology, Children’s Hospital Lucerne, Lucerne, Switzerland

Search for other papers by Freimut H Schilling in
Google Scholar
PubMed Close
,
Gudrun Fleischhack Pediatrics III, University Hospital of Essen, Essen, Germany

Search for other papers by Gudrun Fleischhack in
Google Scholar
PubMed Close
,
Gerhard Binder University Children’s Hospital, Pediatric Endocrinology, University Tübingen, Tübingen, Germany

Search for other papers by Gerhard Binder in
Google Scholar
PubMed Close
,
Brigitte Bison Diagnostic and Interventional Neuroradiology, Faculty of Medicine, University of Augsburg, Augsburg, Germany

Search for other papers by Brigitte Bison in
Google Scholar
PubMed Close
,
Torsten Pietsch Institute of Neuropathology, DGNN Brain Tumor Reference Center, University of Bonn Medical Center, Bonn, Germany

Search for other papers by Torsten Pietsch in
Google Scholar
PubMed Close
,
Carsten Friedrich Department of Pediatrics and Pediatric Hematology/Oncology, University Children’s Hospital, Carl von Ossietzky University, Klinikum Oldenburg AöR, Oldenburg, Germany

Search for other papers by Carsten Friedrich in
Google Scholar
PubMed Close
, and
Hermann L Müller Department of Pediatrics and Pediatric Hematology/Oncology, University Children’s Hospital, Carl von Ossietzky University, Klinikum Oldenburg AöR, Oldenburg, Germany

Search for other papers by Hermann L Müller in
Google Scholar
PubMed Close

cases of congenital craniopharyngioma (cCP). We analyzed prenatal diagnostic findings, postnatal evaluation, and therapeutic interventions and outcome in these three cases of cCP. Patients and methods Patient cohorts and methods Between 2007

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-23-0294
Volume/Issue:
Volume 12: Issue 12
Open access
Annelies van’t Westeinde Department of Women’s and Children’s Health, Karolinska Institutet and Division of Pediatrics, Unit for Pediatric Endocrinology and Metabolic Disorders, Karolinska University Hospital, Stockholm, Sweden

Search for other papers by Annelies van’t Westeinde in
Google Scholar
PubMed Close
,
Leif Karlsson Department of Women’s and Children’s Health, Karolinska Institutet and Division of Pediatrics, Unit for Pediatric Endocrinology and Metabolic Disorders, Karolinska University Hospital, Stockholm, Sweden

Search for other papers by Leif Karlsson in
Google Scholar
PubMed Close
,
Valeria Messina Department of Women’s and Children’s Health, Karolinska Institutet and Division of Pediatrics, Unit for Pediatric Endocrinology and Metabolic Disorders, Karolinska University Hospital, Stockholm, Sweden

Search for other papers by Valeria Messina in
Google Scholar
PubMed Close
,
Lena Wallensteen Department of Women’s and Children’s Health, Karolinska Institutet and Division of Pediatrics, Unit for Pediatric Endocrinology and Metabolic Disorders, Karolinska University Hospital, Stockholm, Sweden

Search for other papers by Lena Wallensteen in
Google Scholar
PubMed Close
,
Manuela Brösamle European Patient Advocacy Group for Adrenal Diseases, European Reference Network on Rare Endocrine Conditions (Endo ERN), Endo ERN Coordinating Centre, Leiden, The Netherlands

Search for other papers by Manuela Brösamle in
Google Scholar
PubMed Close
,
Giorgio Dal Maso ArfSAG (Associazione Refionale Famiglie Sindrome Adreno Genitale) c/o Unita Operativa di Pediatria, Azienda Ospedaliero Universitaria di Bologna, Policlinico S Orsala-Malpighi, Bologna, Italy

Search for other papers by Giorgio Dal Maso in
Google Scholar
PubMed Close
,
Alessandro Lazzerini Spanish Association of Congenital Adrenal Hyperplasia (CAH), Spain

Search for other papers by Alessandro Lazzerini in
Google Scholar
PubMed Close
,
Jette Kristensen ePAG & Chair of Danish Addison Patient Association, Aarhus, Denmark

Search for other papers by Jette Kristensen in
Google Scholar
PubMed Close
,
Diana Kwast Dutch Adrenal Society NVACP, Nijkerk, The Netherlands

Search for other papers by Diana Kwast in
Google Scholar
PubMed Close
,
Lea Tschaidse Department of Endocrinology, Medizinische Klinik IV, Klinikum der Universität München, Munich, Germany

Search for other papers by Lea Tschaidse in
Google Scholar
PubMed Close
,
Matthias K Auer Department of Endocrinology, Medizinische Klinik IV, Klinikum der Universität München, Munich, Germany

Search for other papers by Matthias K Auer in
Google Scholar
PubMed Close
,
Hanna F Nowotny Department of Endocrinology, Medizinische Klinik IV, Klinikum der Universität München, Munich, Germany

Search for other papers by Hanna F Nowotny in
Google Scholar
PubMed Close
,
Luca Persani Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
Department of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano IRCCS, Milan, Italy

Search for other papers by Luca Persani in
Google Scholar
PubMed Close
,
Nicole Reisch Department of Endocrinology, Medizinische Klinik IV, Klinikum der Universität München, Munich, Germany

Search for other papers by Nicole Reisch in
Google Scholar
PubMed Close
, and
Svetlana Lajic Department of Women’s and Children’s Health, Karolinska Institutet and Division of Pediatrics, Unit for Pediatric Endocrinology and Metabolic Disorders, Karolinska University Hospital, Stockholm, Sweden

Search for other papers by Svetlana Lajic in
Google Scholar
PubMed Close

Introduction Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase (21-OH) deficiency occurs in around 1:10,000–1:15,000 newborns ( 1 , 2 , 3 , 4 , 5 ). It is caused by mutations in the CYP21A2 gene coding for the 21-OH enzyme

Article Type:
Review Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-22-0400
Volume/Issue:
Volume 12: Issue 4
Open access
Carmen Sydlik Division of Pediatric Endocrinology, Center for Pediatric and Adolescent Medicine Inn-Salzach-Rott, Altoetting, Germany

Search for other papers by Carmen Sydlik in
Google Scholar
PubMed Close
,
Ilja Dubinski Division of Pediatric Endocrinology, Dr. von Hauner Children's Hospital, University Hospital Munich, LMU Munich, Munich, Germany

Search for other papers by Ilja Dubinski in
Google Scholar
PubMed Close
,
Susanne Bechtold Division of Pediatric Endocrinology, Dr. von Hauner Children's Hospital, University Hospital Munich, LMU Munich, Munich, Germany

Search for other papers by Susanne Bechtold in
Google Scholar
PubMed Close
, and
Heinrich Schmidt Division of Pediatric Endocrinology, Dr. von Hauner Children's Hospital, University Hospital Munich, LMU Munich, Munich, Germany

Search for other papers by Heinrich Schmidt in
Google Scholar
PubMed Close

functions and the overall development of the child, the most optimal adjustment of therapy in children with congenital hypothyroidism (cH) seems to be even more important than in adults. There are only a few studies to date that have investigated fT3 levels

Article Type:
Research Article
Collections:
Thyroid
DOI:
https://doi.org/10.1530/EC-22-0032
Volume/Issue:
Volume 11: Issue 7
Open access
Rachel D C A Diniz
Search for other papers by Rachel D C A Diniz in
Google Scholar
PubMed Close
,
Renata M Souza
Search for other papers by Renata M Souza in
Google Scholar
PubMed Close
,
Roberto Salvatori Division of Endocrinology, Division of Endocrinology, Division of Hepatology, Division of Radiology, Diabetes and Metabolism, Federal University of Sergipe, Aracaju, Brazil

Search for other papers by Roberto Salvatori in
Google Scholar
PubMed Close
,
Alex Franca Division of Endocrinology, Division of Endocrinology, Division of Hepatology, Division of Radiology, Diabetes and Metabolism, Federal University of Sergipe, Aracaju, Brazil

Search for other papers by Alex Franca in
Google Scholar
PubMed Close
,
Elenilde Gomes-Santos
Search for other papers by Elenilde Gomes-Santos in
Google Scholar
PubMed Close
,
Thiago O Ferrão Division of Endocrinology, Division of Endocrinology, Division of Hepatology, Division of Radiology, Diabetes and Metabolism, Federal University of Sergipe, Aracaju, Brazil

Search for other papers by Thiago O Ferrão in
Google Scholar
PubMed Close
,
Carla R P Oliveira
Search for other papers by Carla R P Oliveira in
Google Scholar
PubMed Close
,
João A M Santana
Search for other papers by João A M Santana in
Google Scholar
PubMed Close
,
Francisco A Pereira
Search for other papers by Francisco A Pereira in
Google Scholar
PubMed Close
,
Rita A A Barbosa
Search for other papers by Rita A A Barbosa in
Google Scholar
PubMed Close
,
Anita H O Souza
Search for other papers by Anita H O Souza in
Google Scholar
PubMed Close
,
Rossana M C Pereira
Search for other papers by Rossana M C Pereira in
Google Scholar
PubMed Close
,
Alécia A Oliveira-Santos
Search for other papers by Alécia A Oliveira-Santos in
Google Scholar
PubMed Close
,
Allysson M P Silva
Search for other papers by Allysson M P Silva in
Google Scholar
PubMed Close
,
Francisco J Santana-Júnior
Search for other papers by Francisco J Santana-Júnior in
Google Scholar
PubMed Close
,
Eugênia H O Valença
Search for other papers by Eugênia H O Valença in
Google Scholar
PubMed Close
,
Viviane C Campos
Search for other papers by Viviane C Campos in
Google Scholar
PubMed Close
, and
Manuel H Aguiar-Oliveira
Search for other papers by Manuel H Aguiar-Oliveira in
Google Scholar
PubMed Close

-binding proteins, mainly IGFBP3. Low serum levels of GH or IGF1 and IGF1/IGFBP3 ratio (reflecting low IGF1 bioavailability) have been hypothesized to contribute to NAFLD in AOGHD (13, 14) . However, congenital (vs acquired) isolated GH deficiency (IGHD

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-14-0078
Volume/Issue:
Volume 3: Issue 3
Open access
Marilena Nakaguma Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

Search for other papers by Marilena Nakaguma in
Google Scholar
PubMed Close
,
Fernanda A Correa Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

Search for other papers by Fernanda A Correa in
Google Scholar
PubMed Close
,
Lucas S Santana Unidade de Endocrinologia Genética, Laboratório de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

Search for other papers by Lucas S Santana in
Google Scholar
PubMed Close
,
Anna F F Benedetti Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

Search for other papers by Anna F F Benedetti in
Google Scholar
PubMed Close
,
Ricardo V Perez Serviço de Endocrinologia, Hospital do Servidor Público Estadual de São Paulo, Instituto de Assistência Médica ao Servidor Público Estadual (HSPE-IAMSPE), São Paulo, Brasil

Search for other papers by Ricardo V Perez in
Google Scholar
PubMed Close
,
Martha K P Huayllas Hospital de Transplantes Euryclides de Jesus Zerbini, São Paulo, Brasil

Search for other papers by Martha K P Huayllas in
Google Scholar
PubMed Close
,
Mirta B Miras Hospital de Niños Santísima Trinidad, Cordoba, Argentina

Search for other papers by Mirta B Miras in
Google Scholar
PubMed Close
,
Mariana F A Funari Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

Search for other papers by Mariana F A Funari in
Google Scholar
PubMed Close
,
Antonio M Lerario Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

Search for other papers by Antonio M Lerario in
Google Scholar
PubMed Close
,
Berenice B Mendonca Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

Search for other papers by Berenice B Mendonca in
Google Scholar
PubMed Close
,
Luciani R S Carvalho Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

Search for other papers by Luciani R S Carvalho in
Google Scholar
PubMed Close
,
Alexander A L Jorge Unidade de Endocrinologia Genética, Laboratório de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

Search for other papers by Alexander A L Jorge in
Google Scholar
PubMed Close
, and
Ivo J P Arnhold Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

Search for other papers by Ivo J P Arnhold in
Google Scholar
PubMed Close

Introduction Congenital hypopituitarism (CH) is a rare disorder (incidence of 1:3500–10,000 births) defined by the deficiency of one or more pituitary hormones ( 1 , 2 ). Clinical presentation varies, ranging from isolated growth hormone

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0085
Volume/Issue:
Volume 8: Issue 5
Open access
Anne Bachelot Department of Endocrinology and Reproductive Medicine and Centre de Référence des Maladies Endocriniennes Rares de la croissance et Centre des Pathologies gynécologiques Rares, AP-HP, IE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France
UPMC Univ, Paris, France

Search for other papers by Anne Bachelot in
Google Scholar
PubMed Close
,
Magaly Vialon Department of Endocrinology and Reproductive Medicine and Centre de Référence des Maladies Endocriniennes Rares de la croissance et Centre des Pathologies gynécologiques Rares, AP-HP, IE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France

Search for other papers by Magaly Vialon in
Google Scholar
PubMed Close
,
Amandine Baptiste AP-HP, Clinical Research Unit Paris Descartes Necker Cochin, Paris, France

Search for other papers by Amandine Baptiste in
Google Scholar
PubMed Close
,
Isabelle Tejedor Department of Endocrinology and Reproductive Medicine and Centre de Référence des Maladies Endocriniennes Rares de la croissance et Centre des Pathologies gynécologiques Rares, AP-HP, IE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France

Search for other papers by Isabelle Tejedor in
Google Scholar
PubMed Close
,
Caroline Elie AP-HP, Clinical Research Unit Paris Descartes Necker Cochin, Paris, France

Search for other papers by Caroline Elie in
Google Scholar
PubMed Close
,
Michel Polak Department of Pediatric Endocrinology, Gynecology and Diabetology, Centre de Référence des Maladies Endocriniennes Rares de la Croissance et Centre des pathologies gynécologiques Rares, Hôpital Universitaire Necker Enfants malades, Paris, France
Université Paris Descartes, Paris, France

Search for other papers by Michel Polak in
Google Scholar
PubMed Close
,
Philippe Touraine Department of Endocrinology and Reproductive Medicine and Centre de Référence des Maladies Endocriniennes Rares de la croissance et Centre des Pathologies gynécologiques Rares, AP-HP, IE3M, Hôpital Pitié-Salpêtrière, ICAN, Paris, France
UPMC Univ, Paris, France

Search for other papers by Philippe Touraine in
Google Scholar
PubMed Close
, and
the CRMERC study group
Search for other papers by the CRMERC study group in
Google Scholar
PubMed Close

’ ( 1 ). Congenital adrenal hyperplasia (CAH) is a lifelong condition. CAH is classified according to symptoms, age of presentation and genetics and is usually divided into two forms: the classic or severe form and the non-classic form ( 2 ). Pediatric

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0094
Volume/Issue:
Volume 6: Issue 7
Open access
Nikolina Zdraveska University Children’s Hospital Skopje, Faculty of Medicine, Skopje, Republic of Macedonia

Search for other papers by Nikolina Zdraveska in
Google Scholar
PubMed Close
,
Maja Zdravkovska Institute of Patophysiology and Nuclear Medicine, Faculty of Medicine, Skopje, Republic of Macedonia

Search for other papers by Maja Zdravkovska in
Google Scholar
PubMed Close
,
Violeta Anastasovska University Children’s Hospital Skopje, Faculty of Medicine, Skopje, Republic of Macedonia

Search for other papers by Violeta Anastasovska in
Google Scholar
PubMed Close
,
Elena Sukarova-Angelovska University Children’s Hospital Skopje, Faculty of Medicine, Skopje, Republic of Macedonia

Search for other papers by Elena Sukarova-Angelovska in
Google Scholar
PubMed Close
, and
Mirjana Kocova University Children’s Hospital Skopje, Faculty of Medicine, Skopje, Republic of Macedonia

Search for other papers by Mirjana Kocova in
Google Scholar
PubMed Close

Introduction Thyroid hormones play important role in the processes of neuronal migration and differentiation, myelination and synaptogenesis and are essential for proper neurodevelopment ( 1 ). Congenital hypothyroidism (CH) is generally

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0332
Volume/Issue:
Volume 7: Issue 2
Open access
Kinnaree Sorapipatcharoen Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

Search for other papers by Kinnaree Sorapipatcharoen in
Google Scholar
PubMed Close
,
Thipwimol Tim-Aroon Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

Search for other papers by Thipwimol Tim-Aroon in
Google Scholar
PubMed Close
,
Pat Mahachoklertwattana Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

Search for other papers by Pat Mahachoklertwattana in
Google Scholar
PubMed Close
,
Wasun Chantratita Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

Search for other papers by Wasun Chantratita in
Google Scholar
PubMed Close
,
Nareenart Iemwimangsa Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

Search for other papers by Nareenart Iemwimangsa in
Google Scholar
PubMed Close
,
Insee Sensorn Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

Search for other papers by Insee Sensorn in
Google Scholar
PubMed Close
,
Bhakbhoom Panthan Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

Search for other papers by Bhakbhoom Panthan in
Google Scholar
PubMed Close
,
Poramate Jiaranai Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

Search for other papers by Poramate Jiaranai in
Google Scholar
PubMed Close
,
Saisuda Noojarern Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

Search for other papers by Saisuda Noojarern in
Google Scholar
PubMed Close
,
Patcharin Khlairit Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

Search for other papers by Patcharin Khlairit in
Google Scholar
PubMed Close
,
Sarunyu Pongratanakul Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

Search for other papers by Sarunyu Pongratanakul in
Google Scholar
PubMed Close
,
Chittiwat Suprasongsin Research Center, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

Search for other papers by Chittiwat Suprasongsin in
Google Scholar
PubMed Close
,
Manassawee Korwutthikulrangsri Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

Search for other papers by Manassawee Korwutthikulrangsri in
Google Scholar
PubMed Close
,
Chutintorn Sriphrapradang Department of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

Search for other papers by Chutintorn Sriphrapradang in
Google Scholar
PubMed Close
, and
Preamrudee Poomthavorn Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

Search for other papers by Preamrudee Poomthavorn in
Google Scholar
PubMed Close

Introduction Congenital primary hypothyroidism (CH) is classified into thyroid dysgenesis (TD) and thyroid dyshormonogenesis (TDH) ( 1 ). TDH has increasingly been reported while the incidence of TD has remained stable ( 2 , 3 ). Genetic

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-20-0411
Volume/Issue:
Volume 9: Issue 11
Open access
Zi-Di Xu Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

Search for other papers by Zi-Di Xu in
Google Scholar
PubMed Close
,
Wei Zhang Department of Children Health Care, Xiamen Maternal and Child Health Hospital, Xiamen, China

Search for other papers by Wei Zhang in
Google Scholar
PubMed Close
,
Min Liu Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

Search for other papers by Min Liu in
Google Scholar
PubMed Close
,
Huan-Min Wang Department of Surgical Oncology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

Search for other papers by Huan-Min Wang in
Google Scholar
PubMed Close
,
Pei-Pei Hui Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

Search for other papers by Pei-Pei Hui in
Google Scholar
PubMed Close
,
Xue-Jun Liang Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

Search for other papers by Xue-Jun Liang in
Google Scholar
PubMed Close
,
Jie Yan Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

Search for other papers by Jie Yan in
Google Scholar
PubMed Close
,
Yu-Jun Wu Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

Search for other papers by Yu-Jun Wu in
Google Scholar
PubMed Close
,
Yan-Mei Sang Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

Search for other papers by Yan-Mei Sang in
Google Scholar
PubMed Close
,
Cheng Zhu Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

Search for other papers by Cheng Zhu in
Google Scholar
PubMed Close
, and
Gui-Chen Ni Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

Search for other papers by Gui-Chen Ni in
Google Scholar
PubMed Close

Congenital hyperinsulinism (CHI) is a kind of genetically heterogeneous disease, in which intractable, persistent hypoglycemia is induced by excessive insulin secretion and increased serum insulin concentration ( 1 ). To date, 14 genes ( ABCC8

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0240
Volume/Issue:
Volume 7: Issue 12
Open access
Dafydd Aled Rees Cardiff University, Cardiff, United Kingdom

Search for other papers by Dafydd Aled Rees in
Google Scholar
PubMed Close
,
Deborah P Merke National Institutes of Health Clinical Center and the Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, USA

Search for other papers by Deborah P Merke in
Google Scholar
PubMed Close
,
Wiebke Arlt MRC LMS, London, United Kingdom

Search for other papers by Wiebke Arlt in
Google Scholar
PubMed Close
,
Aude Brac De La Perriere Hospices Civils de Lyon - GHE - Endocrinologie, Bron, France

Search for other papers by Aude Brac De La Perriere in
Google Scholar
PubMed Close
,
Angelica Linden Hirschberg Karolinska Institute, Solna, Sweden

Search for other papers by Angelica Linden Hirschberg in
Google Scholar
PubMed Close
,
Anders Juul Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark, and Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

Search for other papers by Anders Juul in
Google Scholar
PubMed Close
,
John Newell-Price The University of Sheffield, Sheffield, United Kingdom

Search for other papers by John Newell-Price in
Google Scholar
PubMed Close
,
Alessandro Prete University of Birmingham, Birmingham, United Kingdom

Search for other papers by Alessandro Prete in
Google Scholar
PubMed Close
,
Nicole Reisch Endokrinologie, Nephrologie und weitere Sektionen - Medizinische Klinik und Poliklinik IV - Campus Innenstadt, München, Germany

Search for other papers by Nicole Reisch in
Google Scholar
PubMed Close
,
Nike M Stikkelbroeck Radboud University Nijmegen, Nijmegen, Netherlands

Search for other papers by Nike M Stikkelbroeck in
Google Scholar
PubMed Close
,
Philippe A Touraine University Hospitals Pitié Salpêtrière - Charles Foix, Paris, France

Search for other papers by Philippe A Touraine in
Google Scholar
PubMed Close
,
Alex Lewis Neurocrine Biosciences Inc, London, United Kingdom

Search for other papers by Alex Lewis in
Google Scholar
PubMed Close
,
John Porter Neurocrine Biosciences Inc, London, United Kingdom

Search for other papers by John Porter in
Google Scholar
PubMed Close
,
Helen Coope Neurocrine Biosciences Inc, London, United Kingdom

Search for other papers by Helen Coope in
Google Scholar
PubMed Close
, and
Richard J Ross The University of Sheffield, Sheffield, United Kingdom

Search for other papers by Richard J Ross in
Google Scholar
PubMed Close

Introduction The control of congenital adrenal hyperplasia (CAH) is suboptimal on standard hydrocortisone replacement therapy because it does not control the overnight rise in adrenocorticotropic hormone (ACTH) that drives the production of

Article Type:
Research Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-24-0150
Volume/Issue:
Volume 13: Issue 8
Open access