Related Experiment Video

Updated: Jan 17, 2026

Studying the Hypothalamic Insulin Signal to Peripheral Glucose Intolerance with a Continuous Drug Infusion System into the Mouse Brain
08:32

Studying the Hypothalamic Insulin Signal to Peripheral Glucose Intolerance with a Continuous Drug Infusion System into the Mouse Brain

Published on: January 4, 2018

10.8K

Diazoxide and Continuous Glucose Monitoring as Treatment in a Neonate with Hyperinsulinemic Hypoglycemia due to HNF4A

Georgia Sotiriou1, Stilianos Xinias1, Valentina Diamantidou1

  • 11st Department of Pediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Hippokratio General Hospital, Thessaloniki, Greece.

Journal of Clinical Research in Pediatric Endocrinology
|September 17, 2025
PubMed

Insights

Mutations in the HNF4A gene cause neonatal hypoglycemia. Continuous glucose monitoring (CGM) aided treatment decisions and detected adverse hyperglycemia in a patient with HNF4A mutation.

Area of Science:

  • Endocrinology
  • Genetics
  • Neonatal Medicine

Background:

  • Hepatocyte nuclear factor-4a (HNF4A) is crucial for insulin secretion.
  • HNF4A gene mutations are linked to monogenic diabetes and neonatal hyperinsulinemic hypoglycemia.
  • Autosomal dominant inheritance necessitates HNF4A sequencing in neonates with macrosomia or persistent hypoglycemia.

Purpose of the Study:

  • To present a case of diazoxide treatment for neonatal hypoglycemia caused by an HNF4A mutation.
  • To evaluate the utility of continuous glucose monitoring (CGM) in managing neonatal hypoglycemia and its complications.

Main Methods:

  • Case report of a female neonate with HNF4A mutation and hypoglycemia.
  • Utilized diazoxide as a first-line treatment.
  • Employed continuous glucose monitoring (CGM) for real-time glucose tracking and treatment adjustment.

Main Results:

  • CGM facilitated timely treatment decisions and identified hyperglycemia as an adverse event.
  • CGM proved valuable for ongoing glucose monitoring and management post-hospital discharge.
  • Standard finger-prick tests were used for pre-meal glucose monitoring.

Conclusions:

  • Continuous glucose monitoring (CGM) may serve as a valuable adjunct in managing neonatal hypoglycemia, even in cases where it's not formally validated.
  • Further research is recommended to establish the clinical utility of CGM in neonates with hyperinsulinism.
  • HNF4A sequencing is recommended for neonates with risk factors for genetic diabetes or hypoglycemia.

Keywords:
HNF4A mutationMODY 1continuous glucose monitoringdiazoxidehyperinsulinemic hypoglycemia

More Related Videos

Alternate Immersion in Glucose to Produce Prolonged Hyperglycemia in Zebrafish05:49

Alternate Immersion in Glucose to Produce Prolonged Hyperglycemia in Zebrafish

Published on: May 5, 2021

5.5K
Author Spotlight: Exploring the Long-Term Health Impacts of Intracytoplasmic Sperm Injection on Offspring06:11

Author Spotlight: Exploring the Long-Term Health Impacts of Intracytoplasmic Sperm Injection on Offspring

Published on: May 17, 2024

1.0K

Related Concept Videos

Hypoglycemia and Glucagon01:15

Hypoglycemia and Glucagon

Without prolonged fasting, healthy individuals maintain blood glucose levels above 3.5 mM due to a well-adapted neuroendocrine counterregulatory system that effectively prevents acute hypoglycemia, a potentially life-threatening condition. The primary clinical scenarios for hypoglycemia encompass diabetes treatment, inappropriate production of endogenous insulin or insulin-like substances by tumors, and the use of glucose-lowering agents in non-diabetic individuals. Notably, hypoglycemia in the...
838
Diabetes Mellitus: Type 2 and Gestational01:22

Diabetes Mellitus: Type 2 and Gestational

Type 2 diabetes, characterized by insulin resistance, arises when the insulin receptors on cells lose responsiveness to insulin, diminishing the cell's capacity to take up glucose, resulting in elevated blood glucose levels. To receive a diagnosis of Type 2 diabetes, a series of blood glucose tests are necessary to assess whether the blood glucose falls within normal parameters. If the result is out of the normal range, a patient may be diagnosed as prediabetic or diabetic, depending on the...
4.3K
Diabetes Mellitus: Overview and Type I Subtype01:22

Diabetes Mellitus: Overview and Type I Subtype

Diabetes mellitus is a chronic metabolic disorder characterized by high blood glucose levels due to inadequate insulin production, insulin resistance, or both. The condition affects millions worldwide and can significantly impact their health and quality of life.
Type 1 diabetes is an autoimmune disease in which the immune system mistakenly attacks and destroys the insulin-producing beta cells in the pancreas. As a result, the body is unable to produce sufficient insulin, and individuals with...
4.9K
Insulin: Dosing Regimen and Adverse Effects01:16

Insulin: Dosing Regimen and Adverse Effects

Insulin-replacement therapy usually includes both long-acting insulin (basal) and short-acting insulin (to cater to postprandial needs). In a diverse group of type 1 diabetes patients, the average daily insulin dose is typically 0.5-0.7 units/kg body weight. However, obese patients and pubertal adolescents may need more due to insulin resistance.
The basal dose constitutes about 40%-50% of the total daily dose, with the rest as premeal insulin. The mealtime insulin dose should mirror...
689
Oral Hypoglycemic Agents: Glinides01:06

Oral Hypoglycemic Agents: Glinides

Repaglinide (Prandin) and Nateglinide (Starlix), known as glinides, are oral insulin secretagogues that stimulate insulin release from pancreatic β cells by closing the ATP-sensitive potassium channels (KATP channel). Repaglinide controls insulin release from pancreatic β cells by managing potassium efflux. It shares two binding sites with sulfonylureas and also has a unique site, indicating overlapping mechanisms of action. With a rapid onset and a 4-7 hour duration, it effectively...
600
Glucose Homeostasis: Regulation of Blood Glucose01:02

Glucose Homeostasis: Regulation of Blood Glucose

Carbohydrates consumed through foods are converted into glucose, a crucial energy source for the body. In the prandial state, high blood glucose levels stimulate the secretion of insulin from the pancreas. Insulin inhibits hepatic glucose production and stimulates glucose uptake and metabolism by muscle and adipose tissue. The excess glucose is converted into glycogen and stored in the liver and muscles.
During fasting, when blood glucose levels are low, the pancreas secretes glucagon. it...
3.9K