What is congenital hyperinsulinism?
Congenital hyperinsulinism (CHI) is a rare condition where the pancreas makes too much insulin. Insulin is the hormone that helps control blood sugar levels. When the body produces more insulin than it needs, blood sugar can drop too low, which is known as hypoglycaemia.
As a congenital condition, it is present from birth. Symptoms often appear in babies and young children, although the signs can sometimes be difficult to spot.
CHI can vary from mild to more severe, and each child may be affected differently. Getting treatment quickly with ongoing care and support, will help a child lead a healthy, active life.
What causes congenital hyperinsulinism?
Congenital hyperinsulinism is usually caused by changes in certain genes. These genetic changes make insulin-producing cells more active than they should be, leading to too much insulin.
The most commonly affected genes are ABCC8 and KCNJ11, which help the pancreas regulate when insulin is released. Other genes can also be involved, but they are much rarer.
CHI can be inherited in different ways depending on the gene involved. In some families, more than one child may have CHI, while in others it appears for the first time with no family history. In a small number of babies, no clear cause is found, doctors may call this idiopathic CHI.
What are the symptoms of congenital hyperinsulinism?
The symptoms of CHI happen when blood sugar drops too low, symptoms can include:
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Sleepiness or low energy – being unusually drowsy or difficult to wake
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Jitteriness or shaking – small tremors or shivers
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Poor feeding – feeding slowly, taking small amounts or refusing feeds
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Irritability or restlessness – crying more than usual or seeming unsettled
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Pale or clammy skin
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Low body temperature
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Seizures – caused by very low blood sugar and needing urgent medical care
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Developmental changes – if low blood sugar isn’t treated early or happens often
Treating CHI aims to keep blood sugar under control using a combination of medicine, frequent feeding schedules and support from a team of doctors and nurses.
