Long-term health outcomes and comorbidities in cytochrome P450 oxidoreductase (POR) deficiency: a scoping review of evidence and knowledge gaps.

P450 oxidoreductase deficiency (PORD) is a rare genetic condition that affects many body systems because the POR enzyme supports dozens of important metabolic pathways. Most research has focused on early symptoms, such as hormone problems, differences in sex development, and bone abnormalities. Much less is known about how PORD affects people later in life. This review brings together current evidence and highlights possible long-term risks, including high blood pressure, liver and metabolic problems, reduced fertility, and bone health issues. Longer-term studies are urgently needed to understand these risks and to guide better care for individuals with PORD.