A Study of Endocrine, Metabolic, and Genetic Risk Factors of Pediatric Persistent Hypoglycemia at Sohag University Hospital

April 9, 2026 updated by: Menatalla Moamen Ramadan Mohamed, Sohag University

Glucose is the key metabolic substrate for tissue energy production. In the perinatal period, the mother supplies glucose to the fetus, and for most of the gestational period, the normal lower limit of fetal glucose concentration is around 54 mg/dl (3 mmol/L)(1). During the first 24-48 hours of life, as normal neonates transition from intrauterine to extrauterine life, their plasma glucose (PG) concentrations are typically lower than later in life (2). Distinguishing between transitional neonatal glucose regulation in normal newborns and hypoglycemia that persists or occurs for the first time beyond the first 3 days of life is important for prompt diagnosis and effective treatment to avoid serious consequences, including seizures and permanent brain injury (2) The definition of hypoglycemia remains controversial in neonates and children. Some approaches define hypoglycemia on the basis of symptoms, others on the PG value. According to the American Academy of Pediatrics (AAP) and Pediatric Endocrine Society (PES), hypoglycemia is diagnosed when plasma glucose is, respectively, <47 mg/dL and <50 mg/dL in at term newborns during the first 48 h of life. Different threshold values have been proposed for pre-term infants (3,4) .

In at-term newborns after the first 48 h of life, infants and younger children, hypoglycemia is defined when plasma glucose is <50 mg/dL. This threshold value is low enough to avoid false-positive results, but is unlikely to lead to permanent neurological damage. In older children, it is possible to use Whipple's triad characterized by signs and/or symptoms of hypoglycemia, reduced plasma glucose concentration and resolution of these signs/symptoms after acquisition of normoglycemic status(3,4). Per the AAP guidelines, if it is not possible to maintain a glucose concentration >45 mg/dL after 24 hours with using a glucose infusion rate (GIR) rate of 5-8 mg/kg/min, consideration should be given to the possibility of a disorder causing persistent hypoglycemia (5,6) Also, Persistent hypoglycemia (PH) beyond 3 days of life warrants investigation. (7) Blood glucose concentrations are maintained within this range by a complex interplay of hormones that control glucose production and utilization. The key hormones that regulate glucose homeostasis include insulin, glucagon, epinephrine, norepinephrine, cortisol, and growth hormone. Pathological endocrine and metabolic conditions that affect either glucose production or utilization can lead to hypoglycemia (8) The most common causes of hypoglycemia in children are diabetes and idiopathic ketotic hypoglycemia. Hypoglycemia also occurs in other endocrine disorders and inborn errors of metabolism (IEMs). In most cases, hypoglycemia is due to increased usage of glucose (hyperinsulinism, fatty acid oxidation disorders (FAODs), sepsis), decreased nutritional supply (gastroenteritis), or decreased endogenous production of glucose (adrenal insufficiency, IEMs, liver failure) (8). The primary endocrine cause of persistent neonatal hypoglycemia is hyperinsulinism (HI), where dysregulated insulin secretion suppresses ketone production and deprives the brain of alternative fuels. HI can be genetic, such as mutations in the KATP channel genes, or acquired due to perinatal stress factors like intrauterine growth restriction. Hormone deficiencies, including hypopituitarism with cortisol and growth hormone deficiency, can also present with hypoglycemia in the newborn period (4). Metabolic disorders causing hypoglycemia include fatty acid oxidation disorders, which prevent fat breakdown and result in hypoketotic hypoglycemia with potential liver or cardiac involvement. Glycogen storage diseases impair glucose release from glycogen stores and gluconeogenesis, leading to severe fasting hypoglycemia accompanied by elevated lactate and hepatomegaly. Disorders of gluconeogenesis similarly disrupt the liver's ability to convert substrates like alanine and glycerol into glucose (4). Genetic causes of hypoglycemia in children include monogenic defects such as mutations in ABCC8 and KCNJ11 causing congenital hyperinsulinism, as well as genes involved in glycogen storage diseases (e.g., G6PC, PYGL), gluconeogenesis (e.g., FBP1), and hormonal regulation (e.g., GLUD1, HNF4A). Advances in next- generation sequencing have enabled the identification of both common and rare genetic etiologies, improving diagnostic accuracy and personalized management (4).

Retrospective studies suggest the rate of undiagnosed endocrine or metabolic disorders in pediatric patients with recurrent hypoglycemia is as high as 8-28% (9,10) In our study, we will use a stepwise approach to help early and accurate diagnosis of endocrine, metabolic, and suspected genetic causes of persistent hypoglycemiaamong children at Sohag University Hospital.

Study Overview

Status

Not yet recruiting

Conditions

Study Type

Observational

Enrollment (Estimated)

50

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Egypt
    • Sohag Governorate
      • Sohag, Sohag Governorate, Egypt, 82524

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

All patients from birth up to 18 years of life, presented with persistent and recurrent hypoglycemia, will be included in the study

Description

Inclusion Criteria:

  • All patients from birth up to 18 years of life who presented with persistent and recurrent hypoglycemia, will be included in the study Persistent hypoglycemia (PH) is that persist beyond 3 days or Per the AAP guidelines, if it is not possible to maintain a glucose concentration >45 mg/dL after 24 hours with using a GIR rate of 5-8 mg/kg/min (5,6) Recurrent hypoglycemia is the occurrence of more than 2 episodes of low blood sugar, often associated with symptomatic neuroglycopenia.

Exclusion Criteria:

  • Transient hypoglycemia:e.g Neonate:e.g

    1. Infant of a diabetic mother
    2. Prematurity
    3. Intra-uterine growth retardation
    4. Perinatal stress ( infection/sepsis, asphyxia, hypothermia, and respiratory distress)
    5. Maternal beta blocker use Infant and Childhood:e.g
    1. Malnutrition (marasmus or kwashiorkor)
    2. Illness ( gastroenteritis, vomiting, or diarrhea leading to inadequate intake )
    3. Prolonged exercise/fasting
    4. Diabetic patient on insulin therapy
    5. Medications/ toxins: accidental ingestion of diabetes medication, alcohol, or aspirin
    6. Factitious hypoglycemia

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Diagnosis of neonates, infants, and children with endocrine, metabolic, and suspected genetic causes of persistent hypoglycemia at Sohag University Hospital.
Time Frame: 2 years
2 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sohag University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

April 15, 2026

Primary Completion (Estimated)

January 15, 2028

Study Completion (Estimated)

April 15, 2028

Study Registration Dates

First Submitted

April 9, 2026

First Submitted That Met QC Criteria

April 9, 2026

First Posted (Actual)

April 16, 2026

Study Record Updates

Last Update Posted (Actual)

April 16, 2026

Last Update Submitted That Met QC Criteria

April 9, 2026

Last Verified

April 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Soh-Med--26-3-2MD

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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