Hdl Handle:
http://hdl.handle.net/10675.2/176
Title:
Nonclassic congenital adrenal hyperplasia.
Authors:
Witchel, Selma Feldman; Azziz, Ricardo ( 0000-0002-3917-0483 )
Abstract:
Nonclassic congenital adrenal hyperplasia (NCAH) due to P450c21 (21-hydroxylase deficiency) is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias favoring diagnosis in females. Treatment goals include normal linear growth velocity and "on-time" puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and fertility. This paper will review key aspects regarding pathophysiology, diagnosis, and treatment of NCAH.
Citation:
Int J Pediatr Endocrinol. 2010 Jun 30; 2010:625105
Issue Date:
30-Jul-2010
URI:
http://hdl.handle.net/10675.2/176
DOI:
10.1155/2010/625105
PubMed ID:
20671993
PubMed Central ID:
PMC2910408
Type:
Journal Article
ISSN:
1687-9856
Appears in Collections:
President's Research and Publications

Full metadata record

DC FieldValue Language
dc.contributor.authorWitchel, Selma Feldmanen_US
dc.contributor.authorAzziz, Ricardoen_US
dc.date.accessioned2010-11-17T20:16:06Z-
dc.date.available2010-11-17T20:16:06Z-
dc.date.issued2010-07-30en_US
dc.identifier.citationInt J Pediatr Endocrinol. 2010 Jun 30; 2010:625105en_US
dc.identifier.issn1687-9856en_US
dc.identifier.pmid20671993en_US
dc.identifier.doi10.1155/2010/625105en_US
dc.identifier.urihttp://hdl.handle.net/10675.2/176-
dc.description.abstractNonclassic congenital adrenal hyperplasia (NCAH) due to P450c21 (21-hydroxylase deficiency) is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias favoring diagnosis in females. Treatment goals include normal linear growth velocity and "on-time" puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and fertility. This paper will review key aspects regarding pathophysiology, diagnosis, and treatment of NCAH.en_US
dc.rightsThe PMC Open Access Subset is a relatively small part of the total collection of articles in PMC. Articles in the PMC Open Access Subset are still protected by copyright, but are made available under a Creative Commons or similar license that generally allows more liberal redistribution and reuse than a traditional copyrighted work. Please refer to the license statement in each article for specific terms of use. The license terms are not identical for all articles in this subset.en_US
dc.titleNonclassic congenital adrenal hyperplasia.en_US
dc.typeJournal Articleen_US
dc.identifier.pmcidPMC2910408en_US
dc.contributor.corporatenameDepartment of Obstetrics and Gynecology, Cedars-Sinai Medical Center, Los Angeles, CAen_US
dc.contributor.corporatenameDepartment of Obstetrics and Gynecology, and Medicine, The David Geffen School of Medicine at UCLA, Los Angeles, CAen_US

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