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Congenital Hyperinsulinism pp 49–59Cite as

Syndromic Causes of Congenital Hyperinsulinism

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Part of the book series: Contemporary Endocrinology ((COE))

Abstract

Understanding the genetic etiology of hyperinsulinism has been a focus of investigation for a number of years; in addition to specific genes identified related to mechanisms within the pancreatic beta cell, several genetic syndromes have been linked to hyperinsulinism. These include Beckwith-Wiedemann syndrome, Sotos syndrome, Kabuki syndrome, and Turner syndrome. All of these syndromes have been noted to occur with subtle presentations with hyperinsulinism being a clue toward diagnosis of the syndrome, and given there are additional medical management recommendations for patients with these syndromes, it is important to consider possible syndromic etiology as part of the evaluation for patients with hyperinsulinism.

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Author information

Authors and Affiliations

  1. Division of Human Genetics, Center for Childhood Cancer Research, Department of Pediatrics, The Children’s Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA

    Jennifer M. Kalish

  2. Reference Centre for Inherited Metabolic Diseases, Necker-Enfants Malades Hospital, Paris Descartes University, APHP, Paris, France

    Jean-Baptiste Arnoux

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  1. Jennifer M. Kalish
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Correspondence to Jennifer M. Kalish .

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Editors and Affiliations

  1. Division of Endocrinology and Diabetes, Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania and The Children’s Hospital of Philadelphia, Philadelphia, PA, USA

    Diva D. De León-Crutchlow

  2. Division of Endocrinology and Diabetes, Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania and The Children’s Hospital of Philadelphia, Philadelphia, PA, USA

    Charles A. Stanley

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Kalish, J.M., Arnoux, JB. (2019). Syndromic Causes of Congenital Hyperinsulinism. In: De León-Crutchlow, D., Stanley, C. (eds) Congenital Hyperinsulinism. Contemporary Endocrinology. Humana Press, Cham. https://doi.org/10.1007/978-3-030-02961-6_4

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  • DOI: https://doi.org/10.1007/978-3-030-02961-6_4

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