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

Hereditary glucocorticoid resistance.

S W Lamberts1

  • 1Department of Medicine, University Hospital Dijkzigt, Rotterdam, The Netherlands.

Annales D'Endocrinologie
|May 17, 2001
PubMed
Summary

Cortisol resistance, a rare genetic condition, is caused by mutations in the glucocorticoid receptor gene. Further investigation is recommended for patients with specific endocrine symptoms.

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

A consensus on the diagnosis and treatment of acromegaly complications.

Pituitary·2012
Same author

[Unused knowledge? A useful result of research from the funded Investigative Medicine program].

Nederlands tijdschrift voor geneeskunde·2003
Same author

Somatostatin modulates G-CSF-induced but not interleukin-3-induced proliferative responses in myeloid 32D cells via activation of somatostatin receptor subtype 2.

The hematology journal : the official journal of the European Haematology Association·2002
Same author

Neuroendocrine aspects of immunolymphoproliferative diseases.

Annals of oncology : official journal of the European Society for Medical Oncology·2002
Same author

Somatostatin receptor subtype expression in human tumors.

Annals of oncology : official journal of the European Society for Medical Oncology·2002
Same author

Systemic ghrelin levels in subjects with growth hormone deficiency are not modified by one year of growth hormone replacement therapy.

European journal of endocrinology·2001

Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • Cortisol resistance is a rare endocrine disorder, with fewer than 30 cases reported since 1976.
  • The molecular basis of cortisol resistance has been identified in only eight patients to date.

Purpose of the Study:

  • To review the known cases and molecular basis of cortisol resistance.
  • To highlight the potential prevalence of cortisol resistance in patients with specific endocrine symptoms.

Main Methods:

  • Literature review of reported cases of cortisol resistance.
  • Analysis of molecular genetic findings in affected patients.

Main Results:

  • Seven out of eight characterized patients had mutations in the hormone-binding domain of the glucocorticoid receptor gene.
  • One patient had a mutation in the DNA-binding domain of the glucocorticoid receptor gene.

Conclusions:

  • Cortisol resistance is primarily linked to glucocorticoid receptor gene mutations.
  • Endocrinologists should consider cortisol resistance in patients presenting with hypokalemia, hypertension, acne, hirsutism, or menstrual irregularities.

Related Experiment Videos