Diagnostic Considerations

Patients with hyperinsulinism usually have elevated levels of insulin for their glucose concentration, meaning even if they do not have hypoglycemia, their insulin level is inappropriately high for their glucose levels (ie, plasma insulin level >2 µU/mL when blood glucose level is < 60 mg/dL). In contrast, patients with the following disorders have an appropriate concentration of insulin for the simultaneous glucose concentration:

Adrenal insufficiency
Disorders of branched-chain amino acids
Enzymatic block in the Cori and alanine cycles
Fatty acid release/oxidation (ketone synthesis) disorders
Mitochondrial 3-hydroxy-3-methylglutaryl coenzyme A synthase deficiency
Ketone use disorders
Mitochondrial succinyl–coenzyme A transferase deficiency
Mitochondrial acetyl–coenzyme A acyltransferase deficiency
Fructosemia
Galactosemia
Glycerokinase deficiency
Glycogen-storage disease type Ia and type Ib (von Gierke disease, glucose-6-phosphatase deficiency)
Glycogen-storage disease type III (Cori disease; amylo-1, 6-glucosidase deficiency)
Glycogen-storage disease type VI (Hers disease, phosphorylase deficiency)
Growth hormone deficiency

Differential Diagnoses

Workup

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Media Gallery

Mechanisms of insulin secretion.

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Author

Sunil Kumar Sinha, MD Clinical Assistant Professor, Division of Pediatric Endocrinology, University of Arizona College of Medicine

Sunil Kumar Sinha, MD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, Endocrine Society, Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Coauthor(s)

Kenneth Kwok-Chun Chan, MD Consulting Staff, Department of Pediatrics, Andover Pediatrics

Kenneth Kwok-Chun Chan, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Ab Sadeghi-Nejad, MD Chief, Division of Pediatric Endocrinology and Metabolism, Tufts Medical Center; Professor of Pediatrics, Tufts University School of Medicine

Ab Sadeghi-Nejad, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American Pediatric Society, Endocrine Society, Pediatric Endocrine Society, Massachusetts Medical Society, Society for Pediatric Research

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

George P Chrousos, MD, FAAP, MACP, MACE, FRCP(London) Professor and Chair, First Department of Pediatrics, Athens University Medical School, Aghia Sophia Children's Hospital, Greece; UNESCO Chair on Adolescent Health Care, University of Athens, Greece

George P Chrousos, MD, FAAP, MACP, MACE, FRCP(London) is a member of the following medical societies: American Academy of Pediatrics, American College of Physicians, American Pediatric Society, American Society for Clinical Investigation, Association of American Physicians, Endocrine Society, Pediatric Endocrine Society, Society for Pediatric Research, American College of Endocrinology

Disclosure: Nothing to disclose.

Chief Editor

Stephen Kemp, MD, PhD Former Professor, Department of Pediatrics, Section of Pediatric Endocrinology, University of Arkansas for Medical Sciences College of Medicine, Arkansas Children's Hospital

Stephen Kemp, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Pediatric Society, Endocrine Society, Phi Beta Kappa, Southern Medical Association, Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

Thomas A Wilson, MD Professor of Clinical Pediatrics, Chief and Program Director, Division of Pediatric Endocrinology, Department of Pediatrics, The School of Medicine at Stony Brook University Medical Center

Thomas A Wilson, MD is a member of the following medical societies: Endocrine Society, Pediatric Endocrine Society, Phi Beta Kappa

Disclosure: Nothing to disclose.

Acknowledgements

Robert J Ferry Jr, MD Le Bonheur Chair of Excellence in Endocrinology, Professor and Chief, Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, University of Tennessee Health Science Center

Robert J Ferry Jr, MD is a member of the following medical societies: American Academy of Pediatrics, American Diabetes Association, American Medical Association, Endocrine Society, Pediatric Endocrine Society, Society for Pediatric Research, and Texas Pediatric Society

Disclosure: Eli Lilly & Co Grant/research funds Investigator; MacroGenics, Inc Grant/research funds Investigator; Ipsen, SA (formerly Tercica, Inc) Grant/research funds Investigator; NovoNordisk SA Grant/research funds Investigator; Diamyd Grant/research funds Investigator; Bristol-Myers-Squibb Grant/research funds Other; Amylin Other; Pfizer Grant/research funds Other; Takeda Grant/research funds Other

Sections Hyperinsulinism
Overview
Presentation
- History
- Physical
- Causes
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DDx
Workup
Treatment
Medication
Follow-up
References

Hyperinsulinism Differential Diagnoses

Diagnostic Considerations

Differential Diagnoses

References

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