POR deficiency can manifest in a broad spectrum that includes abnormal steroidogenesis (and consequent genital ambiguity and some cases of maternal virilization during pregnancy due to fetoplacental aromatase deficiency), Antley–Bixler syndrome (characterized by skeletal abnormalities) [11,37,80], compromised drug metabolism [81,82], and altered heme metabolism through its role in HO-1 activity [83,84]. This evidence concerns the gene POR and hyperinsulinemic hypoglycemia, familial, 4.