POR deficiency (medical condition)

A rare genetic disorder involving a deficiency of an enzyme (cytochrome P450 oxidoreductase) which causes steroid abnormalities. The condition results in ambiguous genitalia in females due to excessive androgen during fetal growth. Patients can also have the bone symptoms of Antley-Bixler syndrome. See also Antley-Bixler-like syndrome - ambiguous genitalia - disordered steroidogenesis