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 Experiment Videos

Apparent mineralocorticoid excess.

R C Wilson1, S Nimkarn, M I New

  • 1Pediatric Endocrinology, New York-Presbyterian Hospital and the Weill Medical College of Cornell University, 525 East 68th Street, New York, NY 10021, USA.

Trends in Endocrinology and Metabolism: TEM
|April 18, 2001
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Exploring the opportunity for therapeutic drug monitoring (TDM) and precision dose antimicrobials in an outpatient antimicrobial therapy (OPAT) service: a prospective observational study.

The Journal of antimicrobial chemotherapy·2026
Same author

Associations between maternal physical activity in early and late pregnancy and offspring birth size: remote federated individual level meta-analysis from eight cohort studies.

BJOG : an international journal of obstetrics and gynaecology·2018
Same author

Guest Editor's Foreword.

Pediatric annals·2014
Same author

Idiopathic precocious puberty in girls: Psychosexual development.

Journal of youth and adolescence·2013
Same author

Pharmacokinetics of 4-aminopyridine in horses.

American journal of veterinary research·2013
Same author

Erroneous prenatal diagnosis of congenital adrenal hyperplasia owing to a duplication of the CYP21A2 gene.

Journal of perinatology : official journal of the California Perinatal Association·2012
Same journal

HDL resuscitates cells from ferroptosis.

Trends in endocrinology and metabolism: TEM·2026
Same journal

2-Methylbutyrylcarnitine (2MBC).

Trends in endocrinology and metabolism: TEM·2026
Same journal

Decoding growth hormone actions on human growth plate stem cells.

Trends in endocrinology and metabolism: TEM·2026
Same journal

Androgen loss backfires: Brain gate for tumor immunity.

Trends in endocrinology and metabolism: TEM·2026
Same journal

Glucocorticoid resistance-induced inflammation drives cardiovascular-kidney-metabolic (CKM) syndrome pathophysiology.

Trends in endocrinology and metabolism: TEM·2026
Same journal

Hippo signalling in cellular and tissue-level metabolism across health and disease.

Trends in endocrinology and metabolism: TEM·2026
See all related articles

Apparent mineralocorticoid excess (AME) is a severe genetic disorder causing juvenile hypertension and growth failure due to 11 beta-hydroxysteroid dehydrogenase type 2 (11 beta-HSD2) deficiency. Early AME treatment is crucial for preventing severe complications.

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatric Nephrology

Background:

  • Apparent mineralocorticoid excess (AME) is a rare, life-threatening genetic disorder.
  • Characterized by severe juvenile hypertension, growth failure, hypokalemia, and suppressed renin/aldosterone.
  • Caused by autosomal recessive mutations in the HSD11B2 gene, leading to 11 beta-hydroxysteroid dehydrogenase type 2 (11 beta-HSD2) deficiency.

Purpose of the Study:

  • To summarize the clinical and genetic features of Apparent Mineralocorticoid Excess.
  • To highlight the role of 11 beta-HSD2 enzyme deficiency in the pathogenesis of AME.
  • To emphasize the importance of early diagnosis and treatment for managing AME.

Main Methods:

  • Review of existing literature on Apparent Mineralocorticoid Excess.

Related Experiment Videos

  • Analysis of genetic mutations in the HSD11B2 gene.
  • Clinical case study analysis (implied).

    • Main Results:

    • Mutations in HSD11B2 lead to deficient 11 beta-HSD2 enzyme activity.
    • This deficiency impairs cortisol conversion to cortisone, causing mineralocorticoid receptor overactivation.
    • A mild form of AME, identified in 1998, is a potential cause of low-renin hypertension.

    Conclusions:

    • AME is caused by impaired cortisol inactivation due to 11 beta-HSD2 deficiency.
    • Prompt and careful treatment can mitigate severe outcomes and end-organ damage.
    • Recognizing AME is critical for managing severe pediatric hypertension and related complications.