Genetic alterations in Por can lead to Por deficiency (PORD), which varies in presentation and severity but can cause a range of disorders of sexual development and other developmental disorders, including congenital adrenal hyperplasia, skeletal and cranial abnormalities, facial hypoplasia, and Antley-Bixler syndrome17,18. Here, POR is linked to congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency.