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

Congenital adrenal hyperplasia.

Deborah P Merke1, Stefan R Bornstein

  • 1Pediatric and Reproductive Endocrinology Branch, National Institute of Child Health and Human Development and the Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, MD 20892-1932, USA. dmerke@nih.gov

Lancet (London, England)
|June 21, 2005
PubMed
Summary

Congenital adrenal hyperplasia (CAH) is an adrenal cortex disorder causing hormone deficiencies and androgen excess. Current treatments often fail to ensure normal growth and development, presenting ongoing clinical challenges.

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

Perceptions of CAH self-management and stress dosing in relation to health-related quality of life as measured by CAHQL.

Frontiers in endocrinology·2026
Same author

Glucocorticoid reduction after starting crinecerfont in pediatric patients with classic congenital adrenal hyperplasia: practical perspectives.

The Journal of clinical endocrinology and metabolism·2026
Same author

Exogenous glucocorticoid dose impacts circulating microRNA expression in patients with adrenal insufficiency due to 21-hydroxylase deficiency.

Frontiers in endocrinology·2026
Same author

Clinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-hydroxylase Deficiency in 457 Individuals.

The Journal of clinical endocrinology and metabolism·2025
Same author

Longitudinal Characterization and Sonographic Staging of Testicular Adrenal Rest Tumors.

The Journal of clinical endocrinology and metabolism·2025
Same author

Predicting Residual 21-Hydroxylase Enzymatic Activity in Pediatric and Adult Congenital Adrenal Hyperplasia Patients: Towards Individualized Therapy.

CPT: pharmacometrics & systems pharmacology·2025

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • Congenital adrenal hyperplasia (CAH) is an inherited disorder affecting the adrenal cortex, leading to cortisol and potentially aldosterone deficiency, alongside androgen excess.
  • The severe classic form affects 1 in 15,000 births, while milder forms are a common cause of hyperandrogenism.

Purpose of the Study:

  • To provide a comprehensive review of congenital adrenal hyperplasia (CAH).
  • To cover epidemiology, genetics, pathophysiology, diagnosis, and management of CAH.
  • To highlight clinical challenges and explore future therapeutic strategies.

Main Methods:

  • Review of existing literature on CAH.
  • Analysis of epidemiological data.
  • Synthesis of genetic and pathophysiological findings.

Related Experiment Videos

  • Evaluation of current diagnostic and management approaches.

    • Main Results:

    • CAH presents with varied severity, impacting hormone production and leading to androgen excess.
    • Neonatal screening and prenatal diagnosis are now available.
    • Standard hormone replacement therapy has limitations, affecting growth, development, and adult health outcomes.
    • Adults with CAH face risks including iatrogenic Cushing's syndrome, infertility, and metabolic syndrome.

    Conclusions:

    • Effective management of CAH requires addressing hormone deficiencies and androgen excess.
    • Current therapies present challenges in achieving optimal long-term outcomes for affected individuals.
    • Further research into novel therapies is crucial for improving the quality of life for CAH patients.