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About CHI
(Congenital Hyperinsulinism)

Congenital Hyperinsulinism (CHI) is a rare but serious genetic condition in which the pancreas produces too much insulin, leading to dangerously low blood sugar levels (hypoglycemia). Early diagnosis and treatment are essential to prevent permanent brain damage and ensure a better quality of life.

What is CHI?

Congenital Hyperinsulinism (CHI) is a rare genetic disorder of pancreatic β-cells that secrete excess amount of insulin causing severe persistent hypoglycemia (low blood glucose) in new-born babies and children.
Insulin, a hormone secreted by the β-cells of the islets of Langerhans of pancreas, is chiefly involved in the regulation of carbohydrate (glucose) metabolism. Any increase in blood glucose (sugar) concentration is the most important physiologic factor leading to insulin secretion. Insulin in turn leads to break down of glucose (glycolysis) into energy thereby decreasing glucose concentration in the blood. Additionally, insulin also prevents formation of new glucose (gluconeogenesis) conversion of fat into ketones (ketogenesis), which act alternative fuel for the body in absence of glucose.
Typically, child with hyperinsulinism will have detectable / raised insulin concentrations (hyper-insulinemic) with low ketone bodies (hypoketotic) and free fatty acids (hypo-fatty-acidemic) at the time of low blood glucose concentration (hypoglycemia).
CHI causes repeated episodes of hypoglycemia because of dysregulated insulin secretion during low blood glucose concentrations in newborn babies and children. As a result, insulin suppresses ketone bodies formation and this unavailability of glucose and alternative fuels (ketone bodies) increase the risk of brain damage in these patients.

Previously Used Names

  • Hyperinsulinemic Hypoglycemia of
  • Infancy
  • Infancy Hyperinsulinemic Hypoglycemia
  • Neonatal Hypoglycemia
  • Persistent Hyperinsulinemic Hypoglycemia of Infancy
  • Neonatal Nesidioblastosis/Neonatal Insulinoma
  • Islet cell dysregulation syndrome
  • Idiopathic hypoglycemia of infancy

Incidence

In most countries it occurs in approximately 1 in 25,000 to 40,000 live-births in the general population. However, in countries with high rates of consanguineous marriages i.e. marriage between individuals who are closely related, the incidence is estimated up to 1 in 2500 live-births. In India so far there is no prevalence study undertaken but it is thought to be much commoner than in general population.

Signs & Symptoms

Approximately 60% of the babies with CHI develop hypoglycemia during the first month of life, 30% develop it later in the first year and the remaining even after that.
The sign and symptoms of CHI are due to hypoglycemia and are non-specific during early period making its diagnosis difficult. It is also important to note that babies / children could be asymptomatic (no sign or symptoms) during hypoglycemia and is due to repeated episodes of hypoglycemia. Hence it is important to test blood glucose concentrations.
Common symptoms of hypoglycemia include:

  • Irritability
  • Sleepiness
  • Lethargy
  • Excessive hunger
  • Rapid heart rate


More severe symptoms can occur with long periods of hypoglycemia and can lead to:

  • Seizures
  • Coma and Death
  •  

At later ages, the symptoms of CHI can be easier to recognize such as:

  • Hunger
  • Pallor
  • Increased heart rate
  • Tremor
  • Excessive unusual sweating
  • Tiredness
  • Blurred vision
  • Confusion
  • Coma and Death


With early diagnosis and treatment to hypoglycemia, brain damage can be prevented.

Types of CHI

There are two primary forms of CHI:

  • Diffuse CHI: All pancreatic beta cells are affected.
  • Focal CHI: Only a portion of the pancreas is affected by abnormal cells.

Genetic testing and advanced imaging help distinguish between the two, which is important for determining the right treatment approach.

Inheritance Patterns

The human body is made up of billions of building blocks called cells. Genetic material is located in the form of nuclear-DNA in the cell nucleus. This genetic material carries hereditary information from one generation to the next and contains instructions for cells to make proteins for growth and development. The genetic material is actually condensed in the form of structures called as chromosomes that are like threads of DNA. Each cell contains 46 chromosomes (23 pairs consisting of 22 autosomes and 1 sex chromosome) and each chromosome carries thousands of genes arranged one after another on the chromosomes. An individual gets one chromosome from each of his/her parent and passes them to the next generation. Any alteration in the basic structure of the genes or its arrangement / sequence can lead to a mutation of the gene which can present itself in either autosomal recessive or autosomal dominant pattern.
 

An autosomal recessive pattern means both copies of genes passed on from each parent in the cell has mutations. Whereas in autosomal dominant pattern one copy of the altered gene in passed on from either of the parent. 

Congenital Hyperinsulinism is a genetic disorder with different inheritance patters, usually depending on the form of the condition.

Diagnosis

Early diagnosis is crucial and includes:

  • Monitoring blood glucose and insulin levels
  • Measuring ketone and free fatty acid levels
  • Genetic testing
  • 18F-DOPA PET-CT scanning (to detect focal CHI)
  • Pancreatic biopsy (in rare or surgical cases)

A diagnosis is confirmed when low blood glucose coincides with inappropriately high insulin levels and suppressed ketones and fatty acids.

Treatment Options

Treatment depends on the type and severity of CHI:

  • Medical Management: Diazoxide, Octreotide, and glucose infusions
  • Dietary Management: Frequent feedings and cornstarch supplementation
  • Surgical Intervention: Partial or near-total pancreatectomy (mostly for focal/diffuse CHI unresponsive to medication)
  • Monitoring & Support: Continuous glucose monitors (CGMs), regular follow-ups, and developmental assessments

Early and individualized treatment reduces the risk of brain injury and improves long-term outcomes.