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

Pseudohypoaldosteronism: options for consideration

P A Komesaroff1

  • 1Baker Medical Research Institute, Prahran, Victoria, Australia.

Steroids
|January 1, 1995
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

Is this Judaism? The Question of the Consistency of Israeli Policy and Actions in Gaza with Jewish Thought and Ethics : Part 2: Evidence, Analysis and Conclusions.

Journal of bioethical inquiry·2025
Same author

It is Not Too Late for Reconciliation Between Israel and Palestine, Even in the Darkest Hour.

Journal of bioethical inquiry·2024
Same author

A qualitative study of overweight and obese Australians' views of food addiction.

Appetite·2017
Same author

Domestic violence: it is time for the medical profession to play its part.

Internal medicine journal·2015
Same author

Practical aspects of telehealth: establishing telehealth in an institution.

Internal medicine journal·2014
Same author

Practical aspects of telehealth: doctor-patient relationship and communication.

Internal medicine journal·2014
Same journal

Emerging trends for therapeutic valuation of Cyclopamine: Structural features, mechanism of action, and formulation strategies.

Steroids·2026
Same journal

The antiproliferative and antimigratory properties of the 3-biotin-B-norcholesteryl benzimidazole derivative in MCF-7 cells are mediated through G1 phase arrest and apoptosis.

Steroids·2026
Same journal

Development and validation of an LC-MS method for quantification of sex steroid hormones in skeletal muscle.

Steroids·2026
Same journal

Circulating 4β-hydroxycholesterol as a biomarker of CYP3A4 activity: beyond drug development.

Steroids·2026
Same journal

Impact of glycosylation position on flavonoid isomers' inhibition of breast cancer-associated enzyme CYP1B1.

Steroids·2026
Same journal

Synthesis NMR characterization and X-ray structure of α,β-unsaturated steroid spiroketal lactones. evaluation of cytotoxicity and anti-inflammatory activity.

Steroids·2026
See all related articles

Pseudohypoaldosteronism (PHA) is a rare condition causing mineralocorticoid resistance. Studies found no MR gene defects, raising questions about PHA

Area of Science:

  • Endocrinology
  • Molecular Biology
  • Genetics

Background:

  • Pseudohypoaldosteronism (PHA) presents with severe symptoms but is often survived into adulthood without treatment.
  • Unlike other steroid resistance syndromes, PHA has variable inheritance and can be primary or secondary.
  • Clinical signs suggest a mineralocorticoid receptor (MR) abnormality, but no MR defects have been identified.

Purpose of the Study:

  • To investigate the underlying molecular mechanisms of pseudohypoaldosteronism (PHA).
  • To explore potential causes of mineralocorticoid resistance in the absence of identified MR gene defects.

Main Methods:

  • Molecular studies including cytogenetic analysis, gene deletion/rearrangement analysis of the MR gene.
  • Analysis of MR cDNA sequence and MR mRNA expression in peripheral blood mononuclear leukocytes.

Related Experiment Videos

Main Results:

  • No major cytogenetic abnormalities, deletions, or rearrangements of the MR gene were found.
  • The cDNA sequence of the mineralocorticoid receptor (MR) was normal.
  • MR mRNA was expressed in normal quantities in leukocytes.

Conclusions:

  • The underlying mechanism of pseudohypoaldosteronism (PHA) remains unclear despite normal MR gene and mRNA findings.
  • Further investigation is needed to understand how homeostasis is maintained without effective aldosterone action.
  • The possibility of undetected small mutations in heterozygous patients is considered unlikely but not entirely excluded.