Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Disordered steroidogenesis due to POR deficiency

Mutations of the POR gene cause a variable degree of clinical symptoms due to impaired steroidogenesis. Additionally metabolic disorder in detoxication and drug metabolism are observed.


Disorders of the steroid hormone system
ACTH-independent macronodular adrenal hyperplasia 1
ACTH-independent macronodular adrenal hyperplasia 2
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Disorder of the aldosterone system
Disordered steroidogenesis due to POR deficiency
Glucocorticoid resistance
Obesity, adrenal insufficiency, and red hair due to POMC deficiency



Peterson RE et. al. (1985) Male pseudohermaphroditism due to multiple defects in steroid-biosynthetic microsomal mixed-function oxidases. A new variant of congenital adrenal hyperplasia.


Biason-Lauber A et. al. (1997) A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17,20-lyase deficiency.


Flück CE et. al. (2004) Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.


Arlt W et. al. (2004) Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study.


Huang N et. al. (2005) Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.


Hershkovitz E et. al. (2008) Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency.


Sakaguchi M et. al. (1984) Signal recognition particle is required for co-translational insertion of cytochrome P-450 into microsomal membranes.


Shackleton C et. al. (2004) Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype.


Williamson L et. al. (2006) Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency.

Update: Sept. 26, 2018