Document Detail


Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: from birth to adulthood.
MedLine Citation:
PMID:  23044877     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
The most frequent form of congenital adrenal hyperplasia (CAH) is steroid 21-hydroxylase deficiency, accounting for more than 90% of cases. Affected patients cannot synthesize cortisol efficiently. Thus the adrenal cortex is stimulated by corticotropin (ACTH) and overproduces cortisol precursors. Some precursors are diverted to sex hormone biosynthesis, causing signs of androgen excess including ambiguous genitalia in newborn females and rapid postnatal growth in both sexes. In the most severe "salt wasting" form of CAH (~75% of severe or "classic" cases), concomitant aldosterone deficiency may lead to salt wasting with consequent failure to thrive, hypovolemia, and shock. Newborn screening minimizes delays in diagnosis, especially in males, and reduces morbidity and mortality from adrenal crises. CAH is a recessive disorder caused by mutations in the CYP21 (CYP21A2) gene, most of which arise from recombination between CYP21 and a nearby pseudogene, CYP21P (CYP21A1P). Phenotype is generally correlated with genotype. Classic CAH patients require chronic glucocorticoid treatment at the lowest dose that adequately suppresses adrenal androgens and maintains normal growth and weight gain, and most require mineralocorticoid (fludrocortisone). Transition of care of older patients to adult physicians should be planned in advance as a structured, ongoing process.
Authors:
Perrin C White; Tânia A S S Bachega
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Publication Detail:
Type:  Journal Article     Date:  2012-10-08
Journal Detail:
Title:  Seminars in reproductive medicine     Volume:  30     ISSN:  1526-4564     ISO Abbreviation:  Semin. Reprod. Med.     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-10-09     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100909394     Medline TA:  Semin Reprod Med     Country:  United States    
Other Details:
Languages:  eng     Pagination:  400-9     Citation Subset:  IM    
Copyright Information:
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.
Affiliation:
Division of Endocrinology, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas.
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