Congenital adrenal hyperplasia overview

Jump to: navigation, search

Congenital adrenal hyperplasia Microchapters


Patient Info


Historical Perspective



Epidemiology and Demographics

Risk Factors



Differentiating Congenital Adrenal Hyperplasia from other Diseases

Natural History, Complications and Prognosis


History and Symptoms

Physical Examination

Laboratory Findings


Chest X Ray



Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies


Medical Therapy


Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Congenital adrenal hyperplasia overview On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides


American Roentgen Ray Society Images of Congenital adrenal hyperplasia overview

All Images
Echo & Ultrasound
CT Images

Ongoing Trials at Clinical

US National Guidelines Clearinghouse

NICE Guidance

FDA on Congenital adrenal hyperplasia overview

CDC on Congenital adrenal hyperplasia overview

Congenital adrenal hyperplasia overview in the news

Blogs on Congenital adrenal hyperplasia overview</small>

Directions to Hospitals Treating Congenital adrenal hyperplasia

Risk calculators and risk factors for Congenital adrenal hyperplasia overview

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]


Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive conditions resulting from biochemical paths of the steroidogenesis of cortisol from cholesterol by the adrenal glands. Most of these conditions involve greater or lesser production of sex steroids and can alter development of primary or secondary sex characteristics in affected infants, children, and adults. Only a small minority of people with CAH can be said to have an intersex condition, but this attracted American public attention in the late 1990s and many accounts of varying accuracy have appeared in the popular media. Approximately 95% of cases of CAH are due to 21-hydroxylase deficiency.

Prenatal diagnosis can be made in both of these disorders by chorionic villous sampling, but this can only be done at 8-10 weeks. In order to prevent the deleterious effect of excess androgens on genital (and brain!) development, therapy must be started earlier. This is most often considered if there is an affected sibling. Treatment is dexamethasone, which is not degraded by the placenta, but is associated with significant maternal weight gain, hypertension, and edema.