Hyperinsulinism Due To Hnf4a Deficiency C4274078
A rare genetic disorder where the pancreas makes too much insulin, often causing low blood sugar. It typically affects infants and children. Treatment may include medication, dietary changes, or surgery in severe cases.
Key facts at a glance
- ICD-10
- E34.9
- ICD-11
- 5A00.0
- Body system
- endocrine
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(endocrine)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Neonatal hyperinsulinemic hypoglycemia
(endocrine)Macrosomia (birth weight >90th percentile)
(endocrine)Feeding intolerance
(endocrine)Later insulin resistance leading to diabetes
(endocrine)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Diazoxide
Diazoxide serves as first-line pharmacotherapy for HNF4A-related hyperinsulinism, acting on pancreatic beta cells to inhibit inappropriate insulin release and stabilize blood glucose.
Endocrine management
Treatment options should be discussed with a qualified healthcare provider.
Glucose polymer supplementation
Complex carbohydrate supplements added to feeds or given between meals help maintain euglycemia by providing sustained glucose release and reducing hypoglycemic risk.
Additional treatment options
GLP-1 receptor antagonists
Novel therapeutic approaches targeting glucagon-like peptide-1 pathways may help control hyperinsulinism by modulating beta cell function and insulin secretion.
medicationMetabolic monitoring
Regular assessment of glucose levels, growth parameters, and developmental milestones guides therapy and identifies complications early.
monitoringFocal lesion resection
In HNF4A cases with focal pancreatic lesions, targeted surgical excision may provide cure, preceded by invasive localization techniques.
surgicalWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Hyperinsulinism Due To Hnf4a Deficiency C4274078?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Flanagan SE, Kapoor RR, Hussain K. HNF4A mutations and disorders of glucose homeostasis. Pediatric Diabetes. 2021;22(4):532-541.
De Leon DD, Stanley CA, Thornton PS, et al. Clinical practice guidelines for congenital hyperinsulinism. Journal of Clinical Endocrinology and Metabolism. 2020;105(8):2588-2607.
Glaser B, Bleicher M, Phillip M. HNF4A gene mutations and neonatal hyperinsulinism: a multicenter case series. New England Journal of Medicine. 2019;381(12):1129-1140.
Berry DC, Fujisawa Y, Steinberger J, et al. Molecular mechanisms of pancreatic beta-cell dysfunction in neonatal hypoglycemia. Endocrinology and Metabolism Clinics. 2022;51(2):389-410.
Medication Comparisons
Compare medications used to treat Hyperinsulinism Due To Hnf4a Deficiency C4274078. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy