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

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.

• Authors: J C Herkert, E E Blaauwwiekel, A Hoek, H E Veenstra-Knol, I P Kema, W Arlt, M N Kerstens
• Journal: The Netherlands journal of medicine (Neth J Med) Vol. 69 Issue 6 Pg. 281-3 (Jun 2011) ISSN: 1872-9061 [Electronic] Netherlands
• PMID: 21868813 (Publication Type: Case Reports, Journal Article)

Chemical References

• NADPH-Ferrihemoprotein Reductase

Topics

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