Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients.
Authors
Sahakitrungruang, TanineeHuang, Ningwu
Tee, Meng Kian
Agrawal, Vishal
Russell, William E
Crock, Patricia
Murphy, Nuala
Migeon, Claude J
Miller, Walter L
Affiliation
Department of Pediatrics, University of California San Francisco, San Francisco, California 94143, USA.Issue Date
2009-12MeSH
AdolescentAdult
Bone and Bones
Catalysis
Cytochromes c
DNA
Disorders of Sex Development
Escherichia coli
Female
Genetic Vectors
Genitalia
Hormones
Humans
Infant, Newborn
Infertility
Male
Mutation
NADP
NADPH-Ferrihemoprotein Reductase
Pregnancy
Steroid 17-alpha-Hydroxylase
Syndrome
Metadata
Show full item recordCitation
Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients. 2009, 94 (12):4992-5000 J. Clin. Endocrinol. Metab.Journal
The Journal of clinical endocrinology and metabolismDOI
10.1210/jc.2009-1460PubMed ID
19837910Additional Links
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2795645/Abstract
P450 oxidoreductase (POR) deficiency causes disordered steroidogenesis; severe mutations cause genital ambiguity in both sexes plus the Antley-Bixler skeletal malformation syndrome, whereas mild mutations can cause adult infertility.Item Type
ArticleLanguage
enISSN
1945-7197ae974a485f413a2113503eed53cd6c53
10.1210/jc.2009-1460
Scopus Count
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