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].

M Stanić1, M Nesović

  • 1Institut za endokrinologiju, dijabetes i bolesti metabolizma Klinicki centar Srbije, Medicinski fakultet Univerziteta u Beogradu.

Medicinski Pregled
|April 5, 2000
PubMed
Summary

Congenital adrenal hyperplasia (CAH) comprises rare genetic disorders affecting adrenal steroidogenesis. This review details CAH syndromes, focusing on 21-hydroxylase deficiency, the most common form, and its clinical variants.

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

Elevated adrenocorticotropic hormone and cortisol levels in a patient with medullary carcinoma of the thyroid containing ectopic immunoreactive corticotropin-releasing hormone and bombesin.

Endocrine pathology·2020
Same author

[INFECTION IN DIALYSIS AND AFTER KIDNEY TRANSPLANTATION].

Acta medica Croatica : casopis Hravatske akademije medicinskih znanosti·2017
Same author

Calibration of a 1D/1D urban flood model using 1D/2D model results in the absence of field data.

Water science and technology : a journal of the International Association on Water Pollution Research·2012
Same author

Radical perineal prostatectomy: the first experience.

Acta chirurgica Iugoslavica·2010
Same author

Alternative respiration of fungus Phycomyces blakesleeanus.

Antonie van Leeuwenhoek·2009
Same author

[Off-pump myocardial revascularization (OPCAB) in patients with post-infarction unstabile angina, low ejection fraction and renal disfunction].

Acta chirurgica Iugoslavica·2006

Area of Science:

  • Endocrinology
  • Genetics
  • Biochemistry

Context:

  • Congenital adrenal hyperplasia (CAH) is a group of rare autosomal recessive disorders impacting adrenal steroidogenesis.
  • These genetic conditions disrupt cortisol synthesis, leading to pituitary proopiomelanocortin stimulation and adrenocorticotropic hormone hypersecretion, causing adrenal hyperplasia.
  • Symptoms arise from deficient end products and accumulated precursors proximal to the enzymatic defect.

Purpose:

  • To provide a comprehensive overview of the five distinct congenital adrenal hyperplasia (CAH) syndromes.
  • To detail the pathophysiology, clinical manifestations, and diagnostic approaches for each CAH subtype.
  • To highlight 21-hydroxylase deficiency as the most prevalent form and discuss its variants.

Summary:

  • 21-Hydroxylase deficiency (90% of cases) impairs cortisol and aldosterone production, presenting as salt-wasting, simple virilizing, or nonclassic forms.
  • 11 beta-hydroxylase deficiency, the second most common, leads to hypertension and androgen excess due to impaired cortisol and aldosterone synthesis.
  • 17 alpha-hydroxylase/17, 20 lyase deficiency and 3 beta-hydroxysteroid dehydrogenase deficiency are rarer forms with distinct biochemical and clinical profiles, including hypertension and ambiguous genitalia.

Impact:

  • This review enhances understanding of CAH heterogeneity, aiding in accurate diagnosis and management.
  • It emphasizes the importance of specific enzymatic defects in CAH pathogenesis and clinical presentation.
  • Improved knowledge of CAH syndromes facilitates targeted research and therapeutic strategies for affected individuals.

Related Experiment Videos