Congenital Hyperinsulinism—Child

(CHI; Neonatal Hyperinsulinism)

Conn-JENN-it-ULL Hi-PERR-in-SULL-in-IZ-um

Definition

Congenital Hyperinsulinism (CHI) is a high level of insulin. The condition is present from birth. High insulin causes low levels of glucose in the blood. Glucose is important fuel for all organs in the body.

Each episode of CHI can cause low energy and general ill feeling. Repeated low levels can cause serious health issues and slow growth. It may also lead to brain damage, because the brain is very sensitive to glucose levels.

Causes

CHI is caused by a defect in certain genes. There are different types of CHI based on which gene is affected. The genes control how much insulin is released. Insulin should only be released to balance glucose levels in the blood. With CHI, insulin is released even when it is not needed.

Risk Factors

The risk of CHI is higher if there is a family history of CHI.

Symptoms

Some symptoms of CHI in newborns may include:

  • Irritability
  • Weak or high-pitched cry
  • Sleepiness
  • Trouble feeding
  • Tremors
  • Seizures

Symptoms in children may include:

  • Shaking
  • Weakness
  • Fatigue
  • Confusion
  • Loss of consciousness

Diagnosis

The doctor will ask about a child’s symptoms and past health. A physical exam will be done. Tests may include:

  • Blood tests—to check glucose levels.
  • A glucagon stimulation test—tests the balance of glucose and insulin. CHI may be present if there is an increase in glucose.
  • Genetic testing—to find which gene is affected. Can be done with blood or spit sample.

Treatment

Early treatment is important. It can help to decrease the risk of complications.

Low glucose levels can cause damage to growing brains. If CHI is present, treatment will help to keep blood glucose at safe levels. Steps may include:

  • Feeding regularly to keep blood glucose up
  • High glucose tabs or drink or glucose given through IV
  • Frequent blood glucose testing
  • Medicine to:
    • Make the liver release glucose
    • Stop the release of excess insulin

Some types of CHI may go away on its own. Further care will not be needed.

Other types of CHI may be severe or permanent. Surgery may be needed to help control these types. The pancreas will be removed. The pancreas makes insulin. For some, surgery may be a cure. For others, it should decrease episodes of low blood glucose.

Prevention

There are no steps to prevent CHI.

RESOURCES:

Congenital Hyperinsulinism International
http://www.congenitalhi.org

National Organization for Rare Disorders
https://rarediseases.org

CANADIAN RESOURCES:

Canadian Organization for Rare Disorders
https://www.raredisorders.ca

Health Canada
http://www.hc-sc.gc.ca

REFERENCES:

Congenital hyperinsulinism. Congenital Hyperinsulinism International website. Available at: http://congenitalhi.org/congenital-hyperinsulinism/#diagnosis. Accessed January 11, 2019.

Congenital hyperinsulinism. Genetics Home Reference website. Available at: https://ghr.nlm.nih.gov/condition/congenital-hyperinsulinism. Published January 8, 2019. Accessed January 11, 2019.

Congenital hyperinsulinism. National Organization for Rare Disorders website. Available at: https://rarediseases.org/rare-diseases/congenital-hyperinsulinism/#investigational-therapies. Published 2016. Accessed January 11, 2019.

Neonatal hypoglycemia. EBSCO DynaMed Plus website. Available at:http://www.dynamed.com/topics/dmp~AN~T114886/Neonatal-hypoglycemia. Updated August 20, 2018. Accessed January 11, 2019.

Last reviewed September 2020 by EBSCO Medical Review Board Chelsea Skucek, MSN, BS, RNC-NIC  Last Updated: 8/7/2020