Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency

Common Name(s)

Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency

This rare variant of congenital adrenal hyperplasia, caused by mutations in the POR gene, results in apparent combined deficiency of P450C17 ({609300}) and P450C21 ({613815}) and accumulation of steroid metabolites. The most striking phenotypic feature is that affected girls are born with ambiguous genitalia, indicating intrauterine androgen excess. After birth, however, virilization does not progress and amounts of circulating androgens are low or normal. Affected boys are sometimes born undermasculinized. Boys and girls can present with bone malformations, sometimes suggesting the pattern seen in patients with Antley-Bixler syndrome (see {207410}) (summary by {1:Arlt et al., 2004}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency" for support, advocacy or research.

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Scientific Literature

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Research articles describe the outcome of a single study. They are the published results of original research.
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.