Persistent Mullerian duct syndrome: rare presentation in an elderly man

Abstract

Persistent Mullerian duct syndrome has been described as a disease of internal male pseudohermaphroditism, a rare autosomal recessive disease, characterised by persistent Mullerian derivatives in patients with male pattern 46, XY karyotype and normal pattern virilisation. We present a case of an elderly man, who on evaluation for bilateral undescended testes was found to have a pelvic mass suggestive of malignant transformation of an undescended testis on imaging. On surgical exploration, uterus with multiple fibroids, bilateral fallopian tubes, cervix and bilateral atrophic testes were identified. Interestingly, in this case, imaging (contrastCT and MRI) had missed Mullerian structures due to varied presentation, but exploration and excision of the structures followed by their histopathology revealed uterine leiomyomas and confirmed other Mullerian structures (bilateral fallopian tubes, cervix) with bilateral testes.

Keywords: sexual and gender disorders; urology.

Figure 1

Clinical examination revealed bilateral gynaecomastia and well-developed secondary sexual characters. Normal penis, bilateral scrotal sacs were well developed, had rugosities, but empty. Testes were not palpable in either inguinal regions or per abdominally.

Figure 2

ContrastCT of the abdomen showed 8.4×7.8×6.2 cm homogenous lobulated soft tissue density mass lesion seen in the pelvis in rectovesical region. Lesion showed post contrast heterogenous enhancement. The lesion caused displacement of adjacent bowel loops and urinary bladder anteriorly. The lesion derived its blood supply from left internal iliac artery.

Figure 3

An MRI of the abdomen showed similar findings plus a small soft tissue density poorly enhancing focus measuring 1.2×1.0 cm seen in the retroperitoneum adjacent to right psoas suggestive of atrophic right testis. These findings gave impression of right atrophic testis and testicular neoplasm from cryptorchid left testis.

Figure 4

Surgical specimen photo of uterus and atrophic testicles.

Figure 5

Histopathology with H&E staining confirmed the organs as uterus having multiple leiomyomas (×40 magnification) with normal endometrial glands (×100 magnification), fallopian tubes (×40 magnification) and both atrophic testes (×40 magnification).