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Related Concept Videos

Hypoglycemia01:26

Hypoglycemia

Hypoglycemia is a blood glucose level below 70 mg/dL. It commonly occurs in individuals using insulin or insulin-secreting drugs, but may also arise in non-diabetic conditions. People with type 1 diabetes are at the highest risk because they depend on exogenous insulin. People with type 2 diabetes are also at risk, especially when treated with insulin or medications such as sulfonylureas, which increase insulin release regardless of blood glucose levels. It develops when insulin levels exceed...
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...
Hyperglycemia01:29

Hyperglycemia

Hyperglycemia is an abnormally high blood glucose level. It is diagnosed by fasting glucose ≥126 mg/dL, 2-hour oral glucose tolerance test (or OGTT) ≥200 mg/dL, random glucose ≥200 mg/dL with symptoms, or HbA1c ≥6.5%. However, HbA1c results may be unreliable in certain conditions, such as anemia or hemoglobinopathies, and the diagnosis should be confirmed unless classic symptoms are present. Postprandial hyperglycemia is typically considered significant when glucose levels exceed 180 mg/dL two...
Type I Diabetes III: Clinical Manifestations01:19

Type I Diabetes III: Clinical Manifestations

Type 1 diabetes mellitus typically presents with rapid-onset symptoms due to the body’s inability to utilize glucose in the absence of insulin. Since insulin is required for glucose uptake into cells, its deficiency leads to hyperglycemia and cellular energy deprivation, resulting in characteristic clinical features.Polyuria and PolydipsiaOne of the earliest, most prominent symptoms is polyuria (excessive urination). When blood glucose concentrations rise above the renal threshold, the kidneys...
Pathophysiology of Diabetes01:20

Pathophysiology of Diabetes

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, suggesting a...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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...

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Hyperglycemic Clamp and Hypoglycemic Clamp in Conscious Mice
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Peripubertal hypoglycemia--an unusual cause.

Prathosh Gangadhar1, Rama Walia, Anil Bhansali

  • 1Department of Endocrinology, Postgraduate Institute Medical Education and Research, Chandigarh, India.

Journal of Pediatric Endocrinology & Metabolism : JPEM
|May 11, 2012
PubMed
Summary

A 9-year-old boy experienced recurrent hypoglycemic seizures. He was diagnosed with ketotic hypoglycemia and growth hormone deficiency, alongside features of Russell-Silver syndrome.

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Area of Science:

  • Pediatric Endocrinology
  • Genetics
  • Metabolic Disorders

Background:

  • Russell-Silver syndrome is a rare genetic disorder characterized by intrauterine growth restriction, postnatal growth failure, and distinctive facial features.
  • Hypoglycemia, particularly ketotic hypoglycemia, can be a serious metabolic complication in children.

Observation:

  • A 9-year-old boy presented with recurrent episodes of hypoglycemic seizures.
  • The patient exhibited classical facial features and body asymmetry consistent with Russell-Silver syndrome.

Findings:

  • Diagnostic evaluation revealed ketotic hypoglycemia in the patient.
  • Growth hormone deficiency was identified as a co-occurring condition.

Implications:

  • This case highlights the importance of recognizing Russell-Silver syndrome in children presenting with hypoglycemia and seizures.
  • Early diagnosis and management of growth hormone deficiency and hypoglycemia are crucial for preventing neurological complications and optimizing growth in affected children.
  • Further research into the endocrine manifestations of Russell-Silver syndrome is warranted.