Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Adrenal Gland Disorders01:27

Adrenal Gland Disorders

3.8K
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...
3.8K
Sex-linked Disorders01:43

Sex-linked Disorders

110.6K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
110.6K
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

4.7K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
4.7K
Hormones of the Adrenal Glands01:31

Hormones of the Adrenal Glands

6.4K
Adrenal hormones play a pivotal role in maintaining the body's electrolyte balance and orchestrating responses to stress, showcasing the intricate functions of the adrenal cortex and medulla.
The adrenal cortex, a powerhouse of hormone synthesis, generates over two dozen corticosteroid hormones. The zona glomerulosa produces mineralocorticoids, exemplified by aldosterone, influencing the electrolyte composition of body fluids. The synthesis of glucocorticoids such as cortisol and...
6.4K
Alzheimer's Disease: Overview01:26

Alzheimer's Disease: Overview

2.0K
Alzheimer's Disease (AD) is a continually advancing neurodegenerative disorder, distinguished by escalating memory loss, cognitive dysfunction, and dementia. The disease unfolds in three stages: preclinical, mild cognitive impairment (MCI), and dementia. Its onset is insidious, and the progression gradual, with the cause not well explained by other disorders.
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ...
2.0K
Renal Tubule and Collecting Duct01:24

Renal Tubule and Collecting Duct

4.3K
The renal tubule is divided into three parts: the proximal convoluted tubule (PCT), the Loop of Henle (LOH), and the distal convoluted tubule (DCT).
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...
4.3K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Emotional Challenges Experienced along the Diabetes Technology Journey by Caregivers of Black and Hispanic/Latino Youth with Type 1 Diabetes.

Hormone research in paediatrics·2026
Same author

Severe Hypercalcemia in an Infant With Transient Disaccharidase Deficiency.

JCEM case reports·2024
Same author

Dexamethasone swish and spit: A cause of iatrogenic adrenal insufficiency.

Pediatric blood & cancer·2024
Same author

Precocious Puberty and GnRH Analogs: Current Treatment Practices and Perspectives among US Pediatric Endocrinologists.

Hormone research in paediatrics·2024
Same author

Pediatric Inpatient Insulin Pump Use and Glycemic Control.

JAMA network open·2024
Same author

Practice Variation among Pediatric Endocrinologists in the Dosing of Glucocorticoids in Young Children with Congenital Adrenal Hyperplasia.

Children (Basel, Switzerland)·2023

Related Experiment Video

Updated: Mar 20, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

8.5K

Endocrine Dysfunction in X-Linked Adrenoleukodystrophy.

Elizabeth Burtman1, Molly O Regelmann1

  • 1Division of Pediatric Endocrinology and Diabetes, Kravis Children's Hospital, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1616, New York, NY 10029, USA.

Endocrinology and Metabolism Clinics of North America
|June 1, 2016
PubMed
Summary
This summary is machine-generated.

X-linked adrenoleukodystrophy (X-ALD) involves ABCD1 gene mutations, causing very-long-chain fatty acid buildup. This review focuses on endocrine issues like adrenal insufficiency, offering monitoring and management guidance.

Keywords:
ABCD1Addison diseaseAdrenal insufficiencyAdrenomyeloneuropathyAndrogen deficiencyTesticular dysfunctionVery-long-chain fatty acidsX-linked adrenoleukodystrophy

More Related Videos

Author Spotlight: Exploring Sex-Specific Glial Signatures and Therapeutic Leads for Alzheimer's Disease
04:22

Author Spotlight: Exploring Sex-Specific Glial Signatures and Therapeutic Leads for Alzheimer's Disease

Published on: May 20, 2024

1.5K
Behavioral and Locomotor Measurements Using an Open Field Activity Monitoring System for Skeletal Muscle Diseases
06:52

Behavioral and Locomotor Measurements Using an Open Field Activity Monitoring System for Skeletal Muscle Diseases

Published on: September 29, 2014

54.7K

Related Experiment Videos

Last Updated: Mar 20, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

8.5K
Author Spotlight: Exploring Sex-Specific Glial Signatures and Therapeutic Leads for Alzheimer's Disease
04:22

Author Spotlight: Exploring Sex-Specific Glial Signatures and Therapeutic Leads for Alzheimer's Disease

Published on: May 20, 2024

1.5K
Behavioral and Locomotor Measurements Using an Open Field Activity Monitoring System for Skeletal Muscle Diseases
06:52

Behavioral and Locomotor Measurements Using an Open Field Activity Monitoring System for Skeletal Muscle Diseases

Published on: September 29, 2014

54.7K

Area of Science:

  • Endocrinology
  • Genetics
  • Metabolic Disorders

Background:

  • X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder caused by ABCD1 gene mutations.
  • It leads to the accumulation of very-long-chain fatty acids (VLCFA), causing oxidative stress.
  • While neurological complications are well-documented, endocrine dysfunction is also a significant concern.

Purpose of the Study:

  • To review the endocrine complications associated with X-ALD.
  • To provide guidance on monitoring and managing adrenal insufficiency in X-ALD patients.

Main Methods:

  • Literature review of studies on X-ALD and endocrine dysfunction.
  • Synthesis of current knowledge on VLCFA accumulation and its effects.

Main Results:

  • ABCD1 mutations result in VLCFA buildup, impacting adrenal and testicular function.
  • Adrenal insufficiency is a common endocrine manifestation in males with X-ALD.
  • Neurological decline often overshadows the endocrine aspects.

Conclusions:

  • Endocrine dysfunction, particularly adrenal insufficiency, is a critical aspect of X-ALD.
  • Regular monitoring and proactive management of endocrine issues are essential for patients with X-ALD.
  • Further research is needed to fully elucidate the endocrine spectrum of X-ALD.