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Related Concept Videos

Adrenal Gland Disorders01:27

Adrenal Gland Disorders

Adrenal gland disorders manifest when the production of adrenal hormones deviates from the norm, resulting in either excessive or insufficient concentrations.
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses a challenge in...
Cushing Syndrome II: Pathophysiology01:19

Cushing Syndrome II: Pathophysiology

Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features of the...
Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption01:23

Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption

Understanding the physiological differences in the pediatric population is crucial for effective pharmacotherapy. Neonates, infants, and children exhibit significant variations in gastric pH, gastric emptying time, intestinal transit time, and biliary function. These variations profoundly affect oral drug absorption, necessitating a nuanced approach to pediatric dosing.Neonates present with a unique physiological profile, having a gastric pH greater than 4 and faster and more irregular gastric...
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...
Differentiation of Common Myeloid Progenitor Cells01:15

Differentiation of Common Myeloid Progenitor Cells

Common myeloid progenitors (CMPs) are oligopotent cells that can differentiate into granulocytes and macrophages. Granulocytes and macrophages are essential for protecting the body against bacterial, viral, or fungal infections. They migrate from the bone marrow into the circulating blood to reach specific tissue sites where they differentiate and help in immune surveillance. However, they survive only for a few days and must be continuously made available to the organism to maintain a robust...

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Related Experiment Video

Updated: Jul 5, 2026

Co-culture of Glutamatergic Neurons and Pediatric High-Grade Glioma Cells Into Microfluidic Devices to Assess Electrical Interactions
07:39

Co-culture of Glutamatergic Neurons and Pediatric High-Grade Glioma Cells Into Microfluidic Devices to Assess Electrical Interactions

Published on: November 17, 2021

Phaeochromocytoma in children.

R Armstrong1, M Sridhar, K L Greenhalgh

  • 1Department of Clinical Genetics, Royal Liverpool Children's Hospital, Alder Hey, Liverpool, UK. ruth.armstrong@lwh.nhs.uk

Archives of Disease in Childhood
|May 24, 2008
PubMed
Summary

Germline mutations are common in pediatric phaeochromocytoma, even in sporadic cases. Genetic testing is crucial for identifying inherited predispositions in affected children.

Related Experiment Videos

Last Updated: Jul 5, 2026

Co-culture of Glutamatergic Neurons and Pediatric High-Grade Glioma Cells Into Microfluidic Devices to Assess Electrical Interactions
07:39

Co-culture of Glutamatergic Neurons and Pediatric High-Grade Glioma Cells Into Microfluidic Devices to Assess Electrical Interactions

Published on: November 17, 2021

Area of Science:

  • Pediatric Endocrinology
  • Oncology
  • Genetics

Background:

  • Phaeochromocytoma is a rare tumor in children.
  • Previously, only 10% of cases were considered familial.
  • Recent findings indicate a higher prevalence of inherited genetic factors.

Purpose of the Study:

  • To review the etiology, investigation, management, and genetics of pediatric phaeochromocytoma.
  • To highlight the significant role of germline mutations in childhood phaeochromocytoma.
  • To provide guidance for genetic counseling and family screening.

Main Methods:

  • Review of existing literature on pediatric phaeochromocytoma.
  • Analysis of genetic mutation data in young patients.
  • Synthesis of information on clinical presentation and management strategies.

Main Results:

  • Germline mutations are found in up to 59% of pediatric phaeochromocytomas, including apparently sporadic cases.
  • The Von Hippel-Lindau gene is the most frequent mutation identified in this population.
  • Other associated genes include those for succinate dehydrogenase, RET proto-oncogene, and neurofibromatosis type 1.

Conclusions:

  • Pediatric phaeochromocytoma frequently has an inherited genetic basis.
  • Genetic testing and counseling are essential for diagnosis and family management.
  • Early identification of genetic predisposition can guide treatment and surveillance.