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Syndromic Causes of Congenital Hyperinsulinism

  • Jennifer M. KalishEmail author
  • Jean-Baptiste Arnoux
Chapter
Part of the Contemporary Endocrinology book series (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.

Keywords

Beckwith-Wiedemann syndrome Sotos syndrome Kabuki syndrome Turner syndrome 

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© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Division of Human Genetics, Center for Childhood Cancer Research, Department of PediatricsThe Children’s Hospital of Philadelphia and Perelman School of Medicine at the University of PennsylvaniaPhiladelphiaUSA
  2. 2.Reference Centre for Inherited Metabolic Diseases, Necker-Enfants Malades HospitalParis Descartes University, APHPParisFrance

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