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Mireille N M van Poppel
Mireille N M van Poppel
Institute of Human Movement Sciences, Sport and Health, University of Graz, Graz, Austria
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Christopher J Nolan
Christopher J Nolan
Department of Endocrinology at The Canberra Hospital and the Australian National University School of Medicine and Psychology, Canberra, ACT, Australia
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Gernot Desoye
Gernot Desoye
Department of Obstetrics and Gynaecology, Medical University of Graz, Graz, Austria
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identified, including in GATA6 , PDX1 , and PTF1A ( 1 , 2 , 3 ). In cases of complete PA, insulin, a major fetal growth regulator, and C-peptide concentrations are usually below the limit of detection in cord blood. The importance of insulin and other
Sommayya Aftab
Sommayya Aftab
Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK
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Diliara Gubaeva
Diliara Gubaeva
Department of Paediatric Endocrinology, Endocrinology Research Centre, Moscow, Russia
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Jayne A L Houghton
Jayne A L Houghton
The Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK
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Antonia Dastamani
Antonia Dastamani
Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK
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Ellada Sotiridou
Ellada Sotiridou
Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK
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Clare Gilbert
Clare Gilbert
Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK
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Sarah E Flanagan
Sarah E Flanagan
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK
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Anatoly Tiulpakov
Anatoly Tiulpakov
Department of Paediatric Endocrinology, Endocrinology Research Centre, Moscow, Russia
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Maria Melikyan
Maria Melikyan
Department of Paediatric Endocrinology, Endocrinology Research Centre, Moscow, Russia
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Pratik Shah
Pratik Shah
Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK
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Introduction Hyperinsulinism/hyperammonemia (HI/HA) syndrome is the second most common cause of congenital hyperinsulinism (CHI) after ABCC8/KCNJ11 mutations. It is caused due to an activating mutation in the GLUD1 gene, which is located
Danielle Christine Maria van der Kaay
Danielle Christine Maria van der Kaay
Erasmus University Medical Center, Department of Pediatrics, Subdivision of Endocrinology, Rotterdam, Netherlands
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Anne Rochtus
Anne Rochtus
Department of Pediatric Endocrinology, University Hospitals Leuven, Leuven, Belgium
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Gerhard Binder
Gerhard Binder
University Children’s Hospital, Pediatric Endocrinology, University of Tübingen, Tübingen, Germany
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Ingo Kurth
Ingo Kurth
Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany
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Dirk Prawitt
Dirk Prawitt
Center for Paediatrics and Adolescent Medicine, University Medical Center, Mainz, Germany
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Irène Netchine
Irène Netchine
Sorbonne Université, Centre de Recherche Saint-Antoine, INSERM, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France
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Gudmundur Johannsson
Gudmundur Johannsson
Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
Department of Endocrinology at Sahlgrenska University Hospital, Gothenburg, Sweden
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Department of Endocrinology at Sahlgrenska University Hospital, Gothenburg, Sweden
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Anita C S Hokken-Koelega
Anita C S Hokken-Koelega
Erasmus University Medical Center, Department of Pediatrics, Subdivision of Endocrinology, Rotterdam, Netherlands
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Miriam Elbracht
Miriam Elbracht
Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany
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Thomas Eggermann
Thomas Eggermann
Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany
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growth plate matrix production and growth plate chondrogenesis. It has a high degree of heritability based on common variants in genes implicated in different growth-associated pathways ( 1 ). Growth disorders can be the result of non-genetic secondary
Rebeca Esquivel-Zuniga
Rebeca Esquivel-Zuniga
Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA
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Alan D Rogol
Alan D Rogol
Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA
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subsequent production of sex steroids, non-steroidal factors and gametes ( 1 , 2 ). Although the HPG axis awakens in late childhood, the external signs of pubertal maturation: early breast development (Tanner stage II) and an increase in testicular volume
