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.
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