Persistent Mullerian Duct Syndrome in an Adult: A Case Report

Abstract

HM Ali Farsi, HA Mosli, MM Rawas, TN Rehami, SA Hemdi, Persistent Mullerian Duct Syndrome in an Adult: A Case Report. 1990; 10(3): 330-332 Persistent mullerian duct syndrome is a rare form of male pseudohermaphroditism. It is characterized by the presence of well-developed mullerian structures in a male who possesses normally developed external genitalia. 1The classic presentation occurs in children and comprises unilateral cryptorchidism and contralateral inguinal hernia that contains the mullerian structures.2 Recently we encountered the syndrome in a middle-aged man and this influenced the clinical picture as well as management. Case ReportA 40-year-old Saudi man was first seen at our andrology clinic because of primary infertility. He also complained of erectile dysfunction of 10 years' duration. He had been married for 15 years without producing pregnancy. His past medical history included surgical repair of a right inguinal hernia.Examination revealed a healthy man with scanty facial hair. There was no gynecomastia, but his pubic hair was somewhat feminine in distribution. The phallus was normal but the scrotum was empty and underdeveloped. No testicles could be palpated in either inguinal region. There was a right inguinal scar remaining from the hernia repair. Rectal findings were unremarkable.A spermogram on three occasions revealed azoospermia, and the semen was positive for fructose. The serum testosterone level was less than 1 nmol/L (reference interval, 10.4-31); luteinizing hormone, 40 IU/L (reference interval, 3-18); and follicle stimulating hormone, 80 IU/L (reference interval, 3-16). Pelvic ultrasound examination showed a solid mass on the right side. The left testicle was not identifiable. Computed tomogram showed a 6 × 4 × 3 cm soft tissue mass in the right paravesical region that projected posterior to the urinary bladder and could not be differentiated from the right seminal vesicle (Figure 1). The radiological diagnosis was undescended testis, with malignant transformation.On surgical exploration through a lower abdominal incision, the left testis was found to be soft, small, and grossly dysplastic. The epididymis was cystic and separated from the testis. Attached to the epididymis was a mass that extended from the left internal inguinal ring to the right one and descended behind the bladder (Figure 2). The gross appearance was that of the broad ligament and uterus. It was excised and found to consist of a uterus, cervix and vagina, broad ligament, two fallopian tubes, and a dysplastic left testicle (Figure 3). No testicle was found on the right side. Subsequent buccal smear was chromatin-negative. Postoperatively he was started on testosterone replacement therapy.