A rare cause of congenital adrenal hyperplasia: Antley-Bixler syndrome due to POR deficiency

Neth J Med. 2011 Jun;69(6):281-3.

Abstract

Cytochrome P450 oxidoreductase (POR) deficiency is a recently discovered new variant of congenital adrenal hyperplasia. Distinctive features of POR deficiency are the presence of disorders of sexual development in both sexes, glucocorticoid deficiency and skeletal malformations similar to those observed in the Antley-Bixler syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Hyperplasia, Congenital / diagnosis
  • Adrenal Hyperplasia, Congenital / etiology
  • Adrenal Hyperplasia, Congenital / genetics*
  • Antley-Bixler Syndrome Phenotype / genetics*
  • Female
  • Humans
  • Menstruation Disturbances / etiology
  • NADPH-Ferrihemoprotein Reductase / deficiency*
  • Young Adult

Substances

  • NADPH-Ferrihemoprotein Reductase