Nonclassic congenital adrenal hyperplasia.
dc.contributor.author | Witchel, Selma Feldman | |
dc.contributor.author | Azziz, Ricardo | |
dc.date.accessioned | 2010-11-17T20:16:06Z | |
dc.date.available | 2010-11-17T20:16:06Z | |
dc.date.issued | 2010-07-30 | en_US |
dc.identifier.citation | Int J Pediatr Endocrinol. 2010 Jun 30; 2010:625105 | en_US |
dc.identifier.issn | 1687-9856 | en_US |
dc.identifier.pmid | 20671993 | en_US |
dc.identifier.doi | 10.1155/2010/625105 | en_US |
dc.identifier.uri | http://hdl.handle.net/10675.2/176 | |
dc.description.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. | |
dc.rights | The 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.title | Nonclassic congenital adrenal hyperplasia. | en_US |
dc.type | Journal Article | en_US |
dc.identifier.pmcid | PMC2910408 | en_US |
dc.contributor.corporatename | Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center, Los Angeles, CA | en_US |
dc.contributor.corporatename | Department of Obstetrics and Gynecology, and Medicine, The David Geffen School of Medicine at UCLA, Los Angeles, CA | en_US |
refterms.dateFOA | 2019-04-09T16:32:49Z | |
html.description.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. |