Hyperinsulinism Due To Hnf1a Deficiency C4303475
Hyperinsulinism due to HNF1A deficiency causes the pancreas to release too much insulin, leading to low blood sugar. It typically presents in infancy. Treatment aims to maintain stable blood sugar levels.
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
Recurrent hypoglycemic episodes
(endocrine)Neonatal seizures due to hypoglycemia
(endocrine)Feeding difficulties
(endocrine)Later development of diabetes mellitus
(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 is the first-line medical therapy that suppresses insulin secretion by opening ATP-sensitive potassium channels on pancreatic beta cells, helping maintain adequate blood glucose levels.
Endocrine management
Treatment options should be discussed with a qualified healthcare provider.
Frequent feeding regimen
Continuous or frequent feeds with high-complexity carbohydrates maintain blood glucose levels and prevent hypoglycemic episodes between medical interventions.
Additional treatment options
Continuous glucose monitoring
CGM devices provide real-time glucose readings and alerts, enabling early detection of hypoglycemic episodes and more precise treatment adjustments.
monitoringSomatostatin analogs
Octreotide or pasireotide suppress insulin secretion through somatostatin receptors and are used when diazoxide is insufficient or contraindicated.
medicationPancreatectomy
Partial or near-total pancreatectomy may be necessary in severe cases unresponsive to medical therapy, though it carries risk of diabetes development post-surgery.
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 Hnf1a Deficiency C4303475?
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.
Stanley CA, Hussain K, Glaser B. Clinical practice guidelines for congenital hyperinsulinism. J Clin Endocrinol Metab. 2022.
Glaser B, Thornton P, Otonkoski T. Genetic forms of hyperinsulinemic hypoglycemia. Endocr Rev. 2021.
Rozenkova K, Menshikova A, Vcelak J. HNF1A mutations and hyperinsulinism in early childhood. Pediatr Diabetes. 2020.
Yau D, Rahman S, Hussain K. Molecular mechanisms of hyperinsulinism. Nat Rev Endocrinol. 2019.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy