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Cytochrome P450 oxidoreductase deficiency: rare congenital disorder leading to skeletal malformations and steroidogenic defects.

Abstract
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 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 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.
AuthorsMaki Fukami, Tsutomu Ogata
JournalPediatrics international : official journal of the Japan Pediatric Society (Pediatr Int) Vol. 56 Issue 6 Pg. 805-808 (Dec 2014) ISSN: 1442-200X [Electronic] Australia
PMID25294558 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
Copyright© 2014 Japan Pediatric Society.
Chemical References
  • NADPH-Ferrihemoprotein Reductase
Topics
  • Adrenal Hyperplasia, Congenital (etiology)
  • Antley-Bixler Syndrome Phenotype (etiology)
  • Disorders of Sex Development (etiology)
  • Humans
  • Mutation (genetics)
  • NADPH-Ferrihemoprotein Reductase (deficiency)

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