Show Summary Details
Page of

Congenital adrenal hyperplasia in children 

Congenital adrenal hyperplasia in children
Chapter:
Congenital adrenal hyperplasia in children
Author(s):

Felix G. Riepe

DOI:
10.1093/med/9780199235292.003.7122
Page of

PRINTED FROM OXFORD MEDICINE ONLINE (www.oxfordmedicine.com). © Oxford University Press, 2016. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy and Legal Notice).

date: 19 February 2019

Congenital adrenal hyperplasia (CAH) is caused by the genetic impairment of one of the five enzymes required for the biosynthesis of cortisol from cholesterol. In 95% of cases 21-hydroxylase deficiency (21-OHD) is responsible for the disease (1). Classic 21-OHD has an incidence varying from 1:11 800 to 1:21 800, depending on the population background. The pathophysiology, clinical picture, genetics, and the unique aspects of management from the point of view of the paediatric endocrinologist are addressed, and the problems encountered from birth to puberty are described. The child specific issues of rare forms of CAH are summarized thereafter. The reader is referred to Chapter 5.11 for a comprehensive overview of 21-OHD and for more details on all other forms of CAH.

Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.

Please subscribe or login to access full text content.

If you have purchased a print title that contains an access token, please see the token for information about how to register your code.

For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.