Congenital Hyperinsulinism

1. Front Matter

   Pages i-xv

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2. Approach to the Diagnosis of Neonates and Infants with Persistent Hypoglycemia

   • Paul S. Thornton, Charles A. Stanley

   Pages 1-13

3. Diazoxide-Responsive Forms of Congenital Hyperinsulinism

   • Daphne Yau, Charles A. Stanley

   Pages 15-32

4. Diazoxide-Unresponsive Forms of Congenital Hyperinsulinism

   • Arpana Rayannavar, Henrik Thybo Christesen, Diva D. De León-Crutchlow

   Pages 33-47

5. Syndromic Causes of Congenital Hyperinsulinism

   • Jennifer M. Kalish, Jean-Baptiste Arnoux

   Pages 49-59

6. Molecular Diagnosis of Congenital Hyperinsulinism

   • Sarah E. Flanagan, Kara E. Boodhansingh, Emilie Lalonde, Arupa Ganguly

   Pages 61-69

7. Medical Management of Hyperinsulinism

   • Khalid Hussain, Thomas Meissner, Jean-Baptiste Arnoux

   Pages 71-83

8. 18F-DOPA PET

   • Lisa J. States, Klaus Mohnike

   Pages 85-93

9. Histopathology of the Pancreas in Congenital Hyperinsulinism

   • Tricia R. Bhatti, Eduardo D. Ruchelli

   Pages 95-104

10. Surgery for Congenital Hyperinsulinism

    • N. Scott Adzick

    Pages 105-112

11. Perioperative Management of Hyperinsulinism

    • Katherine Lord, Melissa Duran, Natalie Rintoul

    Pages 113-118

12. Management of the Child with Persistent Hypoglycemia After Surgery

    • Amanda M. Ackermann, Diva D. De León-Crutchlow

    Pages 119-130

13. Management of Diabetes and Pancreatic Insufficiency After Pancreatectomy

    • Jefferson N. Brownell, Heather McKnight-Menci, Asim Maqbool, Paul S. Thornton

    Pages 131-141

14. Feeding Problems in Congenital Hyperinsulinism

    • Caroline Hall, Indraneel Banerjee

    Pages 143-154

15. Neurodevelopmental Outcomes

    • Katherine Lord, Diva D. De León-Crutchlow

    Pages 155-160

16. Back Matter

    Pages 161-165

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This unique book is a practical guide for the clinician faced with the challenge of diagnosing and managing neonates, infants and children with congenital hyperinsulinism (HI), within the framework of pathophysiology and molecular genetics. Major advances have been made in HI research over the past two decades, and with this better understanding of the molecular genetics of HI, a “personalized” approach to management according to the type of hyperinsulinism, and particularly according to the likelihood of focal hyperinsulinism, is starting to emerge. The opening chapter discusses HI diagnosis using biochemical approaches and phenotype characterization. The various forms of HI are then presented in detail in three main categories: diazoxide-responsive, diazoxide-unresponsive and syndromic HI. Both medical and surgical management strategies are then discussed, covering imaging, histology, surgical approach, and post-operative management. Complications, such as feeding problems, andlong-term outcomes, such as neurodevelopmental issues, are carefully considered in the final chapter.


Practical and user-friendly, Congenital Hyperinsulinism is the go-to resource for pediatric endocrinologists, residents and fellows, general pediatricians and neonatologists.

• 18FDOPA PET
• Beckwith Wiedemann syndrome
• Congenital hyperinsulism
• Diazoxide-responsive hyperinsulinism
• Diazoxide-unresponsive hyperinsulinism
• Hypoglycemia
• Insulin secretion
• Kabuki syndrome
• Pancreatectomy
• Syndromic hyperinsulinism

• 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, USA

  Diva D. De León-Crutchlow, Charles A. Stanley

Diva D. De León-Crutchlow, MD, MSCE, Associate Professor of Pediatrics, Chief, Division of Endocrinology and Diabetes, Director, Congenital Hyperinsulinism Center, The Children’s Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA

Charles A. Stanley, MD, Emeritus Professor of Pediatrics, The Children’s Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA

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