Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Get in touch with RARE Concierge.

Contact RARE Concierge

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Synonyms: Congenital adrenal hyperplasia due to cytochrome POR deficiency | POR deficiency | PORD

A rare form of congenital adrenal hyperplasia due to P450 oxidoreductase deficiency and characterized by glucocorticoid deficiency virilization of external genitalia in females and undervirilization in males. Findings range from severely affected infants with 46,XX and 46,XY disorders/differences of sex development (DSD) and cortisol deficiency to mildly affected women who appear to have polycystic ovary syndrome or mildly affected men with gonadal insufficiency.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

Newly diagnosed with
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Clinical Trials

For a list of clinical trials in this disease area, please click here.