The first adult case of cytochrome P450 oxidoreductase deficiency with sufficient semen volume and sperm concentration.

Abstract

Cytochrome P450 oxidoreductase deficiency (PORD) is an autosomal recessive disorder and characterized by variable clinical manifesta-tions, including adrenal insufficiency, undervirilization of an individual with the 46,XY karyotype, and bone deformity, owing to impairment of steroid synthesis and cholesterol metabolism. Regarding androgen production capacity, male patients with PORD develop variable puberty, from delayed to spontaneous puber-tal development. 1 To date, studies on spermatogenesis in PORD are scarce. One adult patient with PORD has been reported to develop azoospermia. 2 Another patient showed compromised spermatogenesis on testicular biopsy. 1 Here, we present the case of an adult PORD patient with sufficient semen volume and sperm concentration. arachnodactyly, joint