Document Detail


Congenital adrenal hyperplasias.
MedLine Citation:
PMID:  1778175     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The congenital adrenal hyperplasias (CAH) are a very common group of genetic disorders of steroid hormone synthesis. The genes encoding each of the steroid biosynthetic enzymes have now been cloned, and the mutations in these genes that cause the various forms of CAH are being determined. The emerging picture is substantially different from traditional views of CAH. Examination of the clinical findings in each form of CAH from a molecular genetic perspective simplifies understanding of these complex and closely related syndromes. Because mild forms of CAH are being recognized with increasing frequency, and severely affected patients now survive and reproduce, these disorders are of interest to endocrinologists dealing with all age groups.
Authors:
W L Miller
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Endocrinology and metabolism clinics of North America     Volume:  20     ISSN:  0889-8529     ISO Abbreviation:  Endocrinol. Metab. Clin. North Am.     Publication Date:  1991 Dec 
Date Detail:
Created Date:  1992-03-10     Completed Date:  1992-03-10     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8800104     Medline TA:  Endocrinol Metab Clin North Am     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  721-49     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, University of California, San Francisco.
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MeSH Terms
Descriptor/Qualifier:
Adrenal Hyperplasia, Congenital / diagnosis,  drug therapy,  enzymology*
Cytochrome P-450 Enzyme System / deficiency,  metabolism
Female
Humans
Pregnancy
Prenatal Diagnosis
Steroids / biosynthesis
Chemical
Reg. No./Substance:
0/Steroids; 9035-51-2/Cytochrome P-450 Enzyme System

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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