Document Detail


Cytochrome P450 oxidoreductase deficiency: Rare congenital disorder leading to skeletal malformations and steroidogenic defects.
MedLine Citation:
PMID:  25294558     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Cytochrome P450 oxidoreductase (POR) deficiency (PORD) is a newly characterized disorder. PORD is caused by homozygous or compound heterozygous mutations in POR encoding an electron donor for several microsomal enzymes such as CYP21A2, CYP17A1, CYP19A1, CYP51A1, and CYP26A1-C1. Molecular defects of PORD include a Japanese founder mutation p.R457H, as well as various missense, nonsense, frameshift, and splice-site mutations and exonic deletions. PORD leads to a unique skeletal malformations referred to as Antley-Bixler syndrome, in addition to 46,XX and 46,XY disorders of sex development, pubertal failure, adrenal dysfunction, and maternal virilization during pregnancy. Such clinical features are ascribable to impaired activities of the POR dependent microsomal enzymes. PORD represents one form of congenital adrenal hyperplasia, although it can occur as a congenital malformation syndrome and a disorder of sex development. Phenotypic severity of PORD is highly variable among patients and only partly depends on the residual activity of the mutant proteins. It is possible that PORD remains undiagnosed in several patients. Detailed hormonal assessment and molecular analysis are useful for diagnosis of PORD.
Authors:
Maki Fukami; Tsutomu Ogata
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-10-8
Journal Detail:
Title:  Pediatrics international : official journal of the Japan Pediatric Society     Volume:  -     ISSN:  1442-200X     ISO Abbreviation:  Pediatr Int     Publication Date:  2014 Oct 
Date Detail:
Created Date:  2014-10-8     Completed Date:  -     Revised Date:  2014-10-9    
Medline Journal Info:
Nlm Unique ID:  100886002     Medline TA:  Pediatr Int     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
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This article is protected by copyright. All rights reserved.
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