Researchers studied 15 children in Russia who have a rare genetic form of diabetes called HNF4A-MODY. This type of diabetes runs in families and is caused by a change in a specific gene. The study found that most children didn’t know they had diabetes until doctors discovered it by accident during routine checkups. Interestingly, many of these children were born larger than average. The good news is that once doctors identified the genetic cause, they could switch many children from insulin injections to pills that work better for this specific type of diabetes. This research helps doctors recognize and treat this rare condition more effectively in young people.

The Quick Take

  • What they studied: How a rare genetic form of diabetes (HNF4A-MODY) shows up in Russian children and how doctors should treat it
  • Who participated: 15 children from Russia with genetically confirmed HNF4A-MODY, with an average age of about 13 years old when diagnosed
  • Key finding: About 43% of children who started on insulin injections were successfully switched to diabetes pills (sulfonylureas) after genetic testing confirmed they had this specific type of diabetes, with better blood sugar control
  • What it means for you: If your child has diabetes and it runs in your family, genetic testing might reveal they have this rare type, which responds better to certain pills than insulin. Talk to your doctor about whether genetic testing makes sense for your situation.

The Research Details

This was a cross-sectional study, which means researchers looked at a group of children at one point in time rather than following them over years. The researchers examined 15 children from Russia who had been diagnosed with HNF4A-MODY through genetic testing. They collected information about when each child was diagnosed, their blood sugar levels, family history of diabetes, birth weight, and what treatments doctors prescribed. This type of study is useful for describing what a condition looks like in real patients and how doctors are currently treating it.

The researchers compared these 15 children to a larger group of 807 children with different types of MODY (a family of genetic diabetes conditions) to understand how common HNF4A-MODY is. They also looked at when parents were diagnosed with diabetes compared to their children to see if there was a pattern.

This research matters because HNF4A-MODY is very rare and not well understood in children. By carefully describing what this condition looks like in real kids, doctors can learn to recognize it earlier. The study also shows that genetic testing can change treatment—some children do much better on specific diabetes pills instead of insulin, which is important information for families dealing with this condition.

This study has some important limitations to understand: it’s a small group (only 15 children), so the findings may not apply to all children with this condition worldwide. The study describes what happened at one point in time rather than following children over many years, so we don’t know long-term outcomes. However, the strength of this study is that all 15 children had confirmed genetic testing, which means the diagnosis was certain. The researchers were careful to document exact measurements and percentages, making the information reliable for what they studied.

What the Results Show

The study found that HNF4A-MODY accounts for about 1.8% of all MODY cases in Russian children. Most children (71.5%) didn’t have any symptoms—their high blood sugar was discovered by accident during routine doctor visits or blood tests. The children’s blood sugar levels were moderately elevated, with an average HbA1c (a measure of long-term blood sugar control) of 8.0%.

A very interesting finding was that 35.7% of these children were born larger than average (macrosomia), which is unusual and may be a clue that helps doctors identify this condition early. About half of the children had parents who were diagnosed with diabetes, but the parents were diagnosed much later in life (around age 29-32) compared to their children (around age 13). This suggests the condition may be getting worse or showing up earlier in younger generations.

The genetic testing revealed that most cases were caused by deletions (missing pieces of DNA) or nonsense variants (broken instructions in the gene), which are serious types of genetic changes. The most important finding was about treatment: 43% of children who started on insulin were successfully switched to sulfonylurea pills after genetic confirmation, and these children maintained good blood sugar control or improved. Only one child had to stay on insulin because switching to pills caused their blood sugar to rise too much.

At birth, 7% of children had low blood sugar (hypoglycemia), which is another clue that might help doctors identify this condition in newborns. When first diagnosed, 64.5% of children needed medication right away. Of those who needed treatment, 21% started on insulin and 43% started on metformin (a common diabetes pill). The fact that so many children could eventually switch to sulfonylureas suggests this medication class is particularly well-suited for this genetic type of diabetes.

Previous research in adults with HNF4A-MODY showed that this group responds well to sulfonylurea drugs, often better than to insulin. This study confirms that the same pattern appears to hold true in children, which is valuable because children’s diabetes is often treated differently than adults’. The finding that children are diagnosed much earlier than their parents suggests either that screening is better now, or that this genetic condition may be expressing itself more severely in younger generations.

The biggest limitation is the small sample size of only 15 children, which means these findings may not apply to all children with HNF4A-MODY worldwide or in other populations. The study only looked at children in Russia, so results might be different in other countries. Because this is a cross-sectional study (snapshot in time), we don’t know what happened to these children after the study ended or how they did long-term on their new treatments. The study didn’t include a comparison group of children with other types of diabetes, so we can’t be completely sure all the findings are unique to HNF4A-MODY. Finally, one child couldn’t switch from insulin to pills, but the study doesn’t explain why in detail, which limits our understanding of who might not benefit from this treatment change.

The Bottom Line

If your child has been diagnosed with MODY or has diabetes that runs strongly in your family, ask your doctor about genetic testing to see if they have HNF4A-MODY (moderate confidence—based on small study). If genetic testing confirms HNF4A-MODY, discuss with your doctor whether switching from insulin to sulfonylurea pills might work better (moderate-to-good confidence based on this study’s results). Continue regular blood sugar monitoring and doctor visits regardless of treatment type (high confidence—standard diabetes care). Don’t stop or change diabetes medications without talking to your doctor first.

This research is most relevant for: families with a strong history of diabetes diagnosed in young adults or children; children recently diagnosed with MODY or early-onset diabetes; doctors who treat children with diabetes; and genetic counselors. This is less relevant for people with type 1 diabetes (an autoimmune condition) or type 2 diabetes without a strong family history. If your family has diabetes diagnosed before age 35 in multiple relatives, genetic testing might be worth discussing with your doctor.

If your child is switched from insulin to sulfonylurea pills, improvements in blood sugar control may be seen within days to weeks. However, it can take 2-3 months to see the full benefit and to adjust the dose properly. Long-term benefits (like better overall health and fewer complications) would take years to measure. Some children may need to stay on insulin if they don’t respond well to the pill form, so patience and close monitoring with your doctor is important.

Want to Apply This Research?

  • Track daily blood sugar readings (fasting and before meals) and note which medication was taken that day. Record any symptoms like unusual thirst, fatigue, or frequent urination. This helps you and your doctor see if the medication change is working.
  • If your child is switched to sulfonylurea pills, set up a daily reminder to take the medication at the same time each day. Use the app to log when the pill was taken and record blood sugar numbers. Share this data with your doctor at each visit to track progress.
  • Use the app to track HbA1c test results every 3 months (this shows average blood sugar over time). Record any medication changes and how your child felt after each change. Keep notes on energy levels, thirst, and bathroom habits. Over 6-12 months, you’ll have a clear picture of whether the new treatment is working better than the previous one.

This research describes a rare genetic form of diabetes in a small group of Russian children. These findings may not apply to all children or all populations. Genetic testing and treatment decisions should only be made with your child’s doctor or endocrinologist. Do not change any diabetes medications or treatment plans based on this information alone. If you think your child might have HNF4A-MODY, ask your healthcare provider about genetic testing and appropriate treatment options for your specific situation. This article is for educational purposes and is not medical advice.