Related Experiment Video
Updated: Jun 10, 2025
10:17
An Advanced Murine Model for Nonalcoholic Steatohepatitis in Association with Type 2 Diabetes
Published on: April 26, 2019
7.0K
Endocrine Complications in Hepatic Glycogen Storage Diseases: A Long-term Perspective
Ja Hye Kim1, Yena Lee2, Soojin Hwang1
1Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea (the Republic of).
Summary
Patients with hepatic glycogen storage diseases (GSDs) often experience endocrine issues like short stature and delayed puberty. Early diagnosis and management are crucial for mitigating long-term health consequences in these GSD patients.
Area of Science:
- Endocrinology
- Metabolic Disorders
- Genetics
Background:
- Hepatic glycogen storage diseases (GSDs) are a group of inherited metabolic disorders affecting glucose metabolism.
- Endocrine manifestations, including hypoglycemia, dyslipidemia, and osteoporosis, are recognized complications in GSD patients.
Purpose of the Study:
- To investigate the spectrum and long-term endocrine consequences in patients diagnosed with various types of hepatic GSDs.
- To identify risk factors for specific endocrine sequelae, such as short stature.
Main Methods:
- Retrospective analysis of clinical and endocrine data from 64 genetically confirmed patients with hepatic GSDs (Ia, Ib, III, IV, IX).
- Evaluation of growth parameters, pubertal development, lipid profiles, and bone mineral density (dual-energy X-ray absorptiometry).
Main Results:
- Short stature was prevalent (35.6%), with a significantly higher risk for those diagnosed after 3.4 years (OR=36.1).
- Delayed puberty occurred in 69.7% of patients reaching final height.
- Hypertriglyceridemia (71.9%) and elevated LDL cholesterol (39%) were common; 22 out of 24 patients had low bone mineral density Z-scores.
Conclusions:
- Hepatic GSDs are associated with significant long-term endocrine morbidities, including growth failure, pubertal delay, dyslipidemia, and osteopenia.
- Pediatric endocrinologists must be vigilant for these endocrine sequelae to optimize patient management and reduce morbidity.
Related Concept Videos
01:15Hypoglycemia and Glucagon
164
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...
164
01:20Inborn Errors of Metabolism
140
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
140
01:19Overview of Carbohydrate Metabolism
764
Carbohydrate metabolism is a fundamental biochemical process that ensures a constant supply of energy to living cells. The most important carbohydrate is glucose, which can be broken down via glycolysis to enter into the Krebs cycle and eventually lead to the production of ATP through oxidative phosphorylation.
Glucose transport into cells is facilitated by a family of transport proteins called GLUT (Glucose Transporters). GLUT4 is the primary glucose transporter for insulin-stimulated glucose...
Glucose transport into cells is facilitated by a family of transport proteins called GLUT (Glucose Transporters). GLUT4 is the primary glucose transporter for insulin-stimulated glucose...
764
01:15Diabetes: Symptoms, Diagnosis, and Complications
512
For most patients, experiencing several weeks of polyuria, polydipsia, fatigue, and significant weight loss may indicate the presence of diabetes. Furthermore, adults displaying the phenotypic appearance of type 2 diabetes (particularly those who are obese and not initially insulin-requiring), may have islet cell autoantibodies, suggesting autoimmune-mediated β cell destruction and a diagnosis of latent autoimmune diabetes of adults (LADA). The categorization of glucose homeostasis is...
512
01:20Pathophysiology of Diabetes
881
Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia. The four categories of diabetes are type 1 diabetes, type 2 diabetes, other specific types of diabetes, and gestational diabetes.
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility,...
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility,...
881
01:22Diabetes Mellitus: Type 2 and Gestational
2.2K
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...
2.2K