Case Report: Integrating clinical presentation and genetic analysis in P450 oxidoreductase deficiency: a novel mutation and systematic review

Background Cytochrome P450 oxidoreductase deficiency (PORD) is an ultra-rare autosomal recessive disorder caused by mutations in the POR gene and characterized by highly heterogeneous skeletal, genital, and endocrine manifestations. Owing to this complexity, PORD remains frequently underrecognize…