" /> Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency - CISMeF





Preferred Label : Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Disordered steroidogenesis due to por deficiency; Adrenal hyperplasia, congenital, due to cytochrome p450 oxidoreductase deficiency;

Description : 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 Arlt et al., 2004).;

Prefixed ID : #613571;

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28/07/2025


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