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Congenital Hyperinsulinism pp 1–13Cite as

Approach to the Diagnosis of Neonates and Infants with Persistent Hypoglycemia

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

Abstract

The diagnostic evaluation of neonates and infants with persistent hypoglycemia requires a systematic approach to evaluate the integrity of the fuel and hormone responses during the development of fasting hypoglycemia. This is best accomplished by performing a closely monitored fasting test. The diagnosis of hyperinsulinism relies heavily on demonstrating inappropriate effects of insulin on fasting adaptation, i.e., inappropriate suppression of lipolysis and ketogenesis and inappropriate preservation of liver glycogen reserves as hypoglycemia develops. Once the diagnosis of hyperinsulinism has been established, evidence from the timing and the pattern of the hypoglycemia, the presence or absence of hyperammonemia, the response to substrate challenge tests (i.e., glucose and protein), and the results of genetic testing can specify the type of hyperinsulinism. This knowledge will allow one to implement the correct therapy and determine if the patient is a candidate for curative surgical approach such as is possible in focal KATP-HI and insulinomas.

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Author information

Authors and Affiliations

  1. Endocrine and Diabetes Program, The Congenital Hyperinsulinism Center, Cook Children’s Medical Center, Fort Worth, TX, USA

    Paul S. Thornton

  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

Authors
  1. Paul S. Thornton
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  2. Charles A. Stanley
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Correspondence to Paul S. Thornton .

Editor information

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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Thornton, P.S., Stanley, C.A. (2019). Approach to the Diagnosis of Neonates and Infants with Persistent Hypoglycemia. 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_1

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  • DOI: https://doi.org/10.1007/978-3-030-02961-6_1

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  • Publisher Name: Humana Press, Cham

  • Print ISBN: 978-3-030-02960-9

  • Online ISBN: 978-3-030-02961-6

  • eBook Packages: MedicineMedicine (R0)

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