Delayed diagnosis of disorder of sex development (DSD) due to P450 oxidoreductase (POR) deficiency

Vasiliki Koika, Anastasia K. Armeni, Neoklis A. Georgopoulos

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CASE PRESENTATION: A 36-year old man, operated on for cryptorchidism at the age of 8 years, was referred to the Outpatient Clinic of Reproductive Endocrinology for investigation of infertility. Clinical examination revealed ambiguous genitalia: penis 4-5 cm, testicular volume 2-3 ml, hypospadias, hypertrophic foreskin and scrotum bifida. Mild hypertension was confirmed. No skeletal malformations were detected …