Abstract

A 50-year-old Spanish male pseudohermaphrodite (karyotype 46, XY) is described, who had a squamous cell carcinoma of the vagina, FIGO stage IV B. He was reared as a girl and changed gender at puberty. The phenotype was typical for 5α-reductase deficiency, as were the laboratory findings. A radical vulvectomy and dissection of the groins revealed inadequate resection near the urethra. Postoperative external irradiation was given. Human papillomavirus 16 DNA sequences were found in the tumor and in a groin metastasis. He died 3.5 years postoperation because of a tumor of the lung, probably a metastasis, without signs of local recurrence. Some 60 male pseudohermaphrodites due to 5α-reductase deficiency have been described. Many of them had to cope with the traumatic experience of a change of gender at puberty, because early gonadectomy was seldom done. The sex-life and family-life of our patient were unsatisfactory. We recommend early gonadectomy to prevent virilization at puberty. Psychologic care, genetic counseling and corrective surgery of the genitalia are necessary. Although there are predisposing factors, testicular malignancies have not been reported. This is the first report of squamous cell carcinoma of the vagina in a male pseudohermaphrodite with 5α-reductase deficiency and human papillomavirus 16 DNA sequences.