🧬 Gene Summary: INSR
The Insulin Receptor gene
What does the INSR gene do?
The INSR gene provides instructions to make the insulin receptor, which sits on the surface of many cells in the body. This receptor allows cells to respond properly to insulin so glucose can move from the blood into tissues for energy.
The insulin receptor helps the body sense and respond to insulin correctly.
How can changes in the INSR gene cause hyperinsulinism?
When the insulin receptor does not work properly:
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The body may be less sensitive to insulin
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To compensate, the pancreas may release too much insulin
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This excess insulin can cause repeated low blood sugar (hypoglycemia)
In some infants and children, this imbalance leads to hyperinsulinemic hypoglycemia, even though the underlying issue is insulin resistance.
How common are changes in the INSR gene in hyperinsulinism?
INSR-related hyperinsulinism is rare but it is a recognized cause, especially when hypoglycemia occurs alongside features of insulin resistance.
How are changes in the INSR gene inherited?
Changes in the INSR gene may be inherited in different ways:
• Recessive inheritance
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Both parents usually carry one non-working copy of the gene
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Parents are typically unaffected
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Children may have more severe symptoms
• Dominant inheritance
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One non-working copy of the gene can affect insulin signaling
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A parent may have mild or unrecognized symptoms
• New (de novo) changes
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Sometimes the gene change occurs for the first time in the child
💡 A genetic counsellor can help explain what this means for your family.
What does an INSR gene change mean for my child?
Children with INSR-related hyperinsulinism may:
• Have low blood sugar starting in infancy or early childhood
• Require frequent feeds, medication, or IV glucose
• Show signs of insulin resistance as they grow (such as high insulin levels, abnormal glucose tolerance, or changes in growth)
Symptoms can range from mild to more complex and may change over time.
Does INSR affect treatment?
Knowing a child has an INSR gene change helps doctors:
• Understand why insulin levels are high
• Choose the most appropriate medications
• Avoid unnecessary pancreatic surgery
• Monitor for insulin resistance as the child grows
What about future children or family members?
Genetic testing can:
• Clarify the chance of hyperinsulinism in future pregnancies
• Identify relatives who may carry the gene change
• Help guide long-term monitoring and family planning
A genetic counsellor can review testing and inheritance options.
Where can I learn more or get support?
• Speak with your child’s hyperinsulinism care team
• Meet with a genetic counsellor
• Connect with hyperinsulinism family support organizations
🔍 Looking for more technical information?
Clinicians and researchers can review detailed resources on insulin receptor dysfunction and insulin resistance–associated hyperinsulinism in the technical section below.