Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene
2007
Type 2 Diabetes: Hypoinsulinism, Hyperinsulinism, or Both?
Sample size: 54
publication
Evidence: moderate
Author Information
Author(s): Benjamin Glaser
Primary Institution: Hadassah-Hebrew University Medical Center
Hypothesis
The primary defect caused by mutations in the HNF4A and HNF1A genes results in decreased insulin secretion.
Conclusion
HNF4A mutations are associated with increased fetal weight, while HNF1A mutations do not appear to affect fetal weight.
Supporting Evidence
- HNF4A mutations were associated with increased fetal weight.
- HNF1A mutations did not appear to affect fetal weight.
- Eight out of 54 patients with HNF4A mutations had transient neonatal hypoglycemia.
Takeaway
Some babies with a specific gene mutation can be heavier at birth because their bodies make too much insulin, but this can lead to problems later in life.
Methodology
Patient records were reviewed to assess birth weight and insulin levels in patients with HNF4A mutations.
Digital Object Identifier (DOI)
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