POR and Antley-Bixler syndrome: In fact, the majority of studies on POR variants were initially focused on an autosomal recessive genetic disease (formerly known as P450 oxidoreductase deficiency) with clinical phenotypes of ambiguous genitalia, congenital adrenal hyperplasia, skeletal malformation, Antley-Bixler syndrome (ABS), and polycystic ovary syndrome [28].