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Congenital Adrenal Hyperplasia

  1. Maria I New

Published Online: 28 MAY 2003

DOI: 10.1038/npg.els.0002261

eLS

eLS

How to Cite

New, M. I. 2003. Congenital Adrenal Hyperplasia. eLS. .

Author Information

  1. Weill Medical College of Cornell University, New York, USA

Publication History

  1. Published Online: 28 MAY 2003

This is not the most recent version of the article. View current version (15 OCT 2014)

Abstract

Congenital adrenal hyperplasia is a family of treatable disorders whose common feature is impaired cortisol synthesis, most often due to an enzymatic defect. In some forms, a build-up of steroids in the pathway prior to the defective enzyme leads to an overproduction of androgens and virilization of an affected female fetus.

Keywords:

  • congenital adrenal hyperplasia;
  • 21-hydroxylase;
  • ambiguous genitalia;
  • prenatal diagnosis and treatment