Document Detail

Prenatal Treatment of Congenital Adrenal Hyperplasia-Not Standard of Care.
MedLine Citation:
PMID:  22639328     Owner:  NLM     Status:  Publisher    
Congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency is a common autosomal recessive disorder due to mutations in the CYP21A2 gene. Since genetic counselors play a crucial role in educating families about inherited disorders, they need to have thorough knowledge regarding the pathophysiology of CAH especially the effects on the fetus, the complex genetics of this disorder, and the controversies surrounding experimental prenatal dexamethasone treatment. Affected female fetuses may have varying degree of virilization of the external genitalia. Starting in the 1980's, supraphysiologic glucocorticoid treatment was used to decrease the virilization of the external genitalia of affected female fetuses. However, recent clinical observations, animal studies and greater awareness of the details of human fetal adrenal physiology raise concerns regarding the safety of this prenatal treatment. We review the pathophysiology of CAH, the safety and ethical considerations of prenatal dexamethasone treatment and the views of multiple medical societies that conclude that this experimental therapy should only be done in prospective trials approved by ethical review boards.
Selma Feldman Witchel; Walter L Miller
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-5-26
Journal Detail:
Title:  Journal of genetic counseling     Volume:  -     ISSN:  1573-3599     ISO Abbreviation:  -     Publication Date:  2012 May 
Date Detail:
Created Date:  2012-5-28     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9206865     Medline TA:  J Genet Couns     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Department of Pediatrics, Division of Pediatric Endocrinology, Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh, Pittsburgh, PA, 15224, USA,
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