Document Detail

Prenatal diagnosis and treatment of congenital adrenal hyperplasia.
MedLine Citation:
PMID:  17342026     Owner:  NLM     Status:  MEDLINE    
Congenital adrenal hyperplasia (CAH) is a group of inherited disorders caused by enzyme deficiencies in steroid biosynthesis, which disrupt the conversion of cholesterol to cortisol. The most common form of CAH is 21-hydroxylase deficiency (21-OHD). In its severe form, 21-OHD causes prenatal virilization of external female genitalia. Through molecular genetic analysis of fetal DNA, defects in 21-OH synthesis can be diagnosed in utero. Genital ambiguity in females can be reduced or eliminated with prenatal dexamethasone treatment, which successfully suppresses fetal androgen production. Data from current, large cohort studies show that prenatal diagnosis and treatment are safe and effective.
Saroj Nimkarn; Maria I New
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Review    
Journal Detail:
Title:  Pediatric endocrinology reviews : PER     Volume:  4     ISSN:  1565-4753     ISO Abbreviation:  Pediatr Endocrinol Rev     Publication Date:    2006 Dec-2007 Jan
Date Detail:
Created Date:  2007-03-07     Completed Date:  2007-05-02     Revised Date:  2008-04-09    
Medline Journal Info:
Nlm Unique ID:  101202124     Medline TA:  Pediatr Endocrinol Rev     Country:  Israel    
Other Details:
Languages:  eng     Pagination:  99-105     Citation Subset:  IM    
Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA.
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MeSH Terms
Adrenal Hyperplasia, Congenital / diagnosis*,  genetics,  therapy*
Infant, Newborn
Prenatal Diagnosis / methods*
Grant Support

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