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Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Disease definition

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.

ORPHA:95699

Classification level: Disorder
  • Synonym(s):
    • Congenital adrenal hyperplasia due to cytochrome POR deficiency
    • POR deficiency
    • PORD
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E25.0
  • ICD-11: 5A71.01
  • OMIM: 613571
  • UMLS: -
  • MeSH: -
  • GARD: 12664
  • MedDRA: -

  A summary on this disease is available in Español (2022) Français (2022) Nederlands (2022) Português (2022) Deutsch (2012) Italiano (2012) Russian (2012)

Detailed information

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Guidelines

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.