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Updated: Jan 23, 2026
04:50
The Extraction of Liver Glycogen Molecules for Glycogen Structure Determination
Published on: February 8, 2022
6.5K
Glycogen storage disease presenting as Cushing syndrome
Margaret A Stefater1, Joseph I Wolfsdorf1, Nina S Ma1
1Division of Endocrinology, Department of Pediatrics Boston Children's Hospital, Harvard Medical School Boston Massachusetts.
JIMD Reports
|June 27, 2019
Summary
Glycogen storage disease (GSD) can cause Cushing syndrome-like symptoms due to chronic hypoglycemia. Stress-induced Cushing (SIC) syndrome is proposed for these cases, impacting growth and weight.
Area of Science:
- Pediatric Endocrinology
- Metabolic Disorders
- Genetics
Background:
- Glycogen storage disease (GSD) often presents with impaired growth and characteristic facial features.
- Cushing syndrome (CS) involves excessive cortisol, leading to moon facies, growth failure, and obesity.
Observation:
- An infant with moon facies, growth failure, and obesity was evaluated for hypothalamic-pituitary-adrenal (HPA) axis dysfunction.
- The infant was diagnosed with GSD type IXa, characterized by liver disease, hypoglycemia, and a pathogenic PHKA2 variant.
Findings:
- The patient exhibited hypercortisolemia and cushingoid appearance, which resolved after treatment for hypoglycemia.
- This suggests HPA axis activation and increased glucocorticoid secretion were stress responses to chronic hypoglycemia, not typical CS.
Implications:
- Chronic hypoglycemia in GSD can mimic CS, leading to poor growth and weight gain.
- The term "stress-induced Cushing (SIC) syndrome" is proposed for this condition.
- Evaluating children with hypoglycemia and poor growth for CS is recommended.
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