Persistent Müllerian Duct Syndrome in a Child: Surgical Management

Abstract

Persistent müllerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism in which uterus and fallopian tubes are present in a genotypic and phenotypic male. Over 150 cases have been reported in the literature, mostly in adults.1,2 PMDS is likely to be encountered during surgery for undescended testis and inguinal hernia, and surgeons should be aware of this disorder and the options of surgical management. We report a case of PMDS and discuss the etiology, pathogenesis, anatomic types and surgical management. Case ReportA three-month-old Saudi male infant was referred to the Pediatric Surgery clinic for bilateral cryptorchidism. His parents were not related, and there was no family history of undescended testis. On examination, both testes were undescended and impalpable. The penis and scrotum were normal in appearance. A pelvic ultrasound (US) had shown absence of testes and no other abnormality. Human chorionic gonadotrophin stimulation (HCG) test confirmed the presence of testicular tissue.At seven months of age, there was a palpable left testis within an inguinal hernia. A month later at surgery, the uterus, fallopian tubes and both testes were unexpectedly found within the hernia sac (Figure 1). Testicular biopsies were performed and the testes, uterus and fallopian tubes returned into the pelvis, followed by herniorrhaphy. Postoperatively, chromosome analysis confirmed a normal male 46, XY karyotype, and a pelvic US showed a uterus. Histology of the testicular biopsies revealed immature testes consistent with cryptorchid testes.At the age of 15 months, the patient underwent bilateral proximal salpingectomies, leaving the fimbria with each epididymis, corporeal hysterectomy and pedicles of myometrium left with the vasa deferentia. The cervix was split longitudinally in the midline to achieve successful bilateral orchidopexy after mobilizing the internal spermatic vessels. Postoperative follow-up after one year showed both testes in the scrotum to be normal.

Indirect inguinal hernia with uterine tissue in a male: A case of persistent Mullerian duct syndrome and literature review

“…2 Clinically, PMDS is most commonly diagnosed as an incidental finding during an operation, but the presence of unilateral or bilateral undescended testes may increase clinical suspicion. [7][8][9][10][11] Imaging modalities for the diagnosis of PMDS have thus far proven unreliable. 12 Most (60%-70%) of patients with PMDS have bilateral undescended testes located in an area analogous to the ovaries in women.…”

A rare form of persistent Mullerian duct syndrome: Transverse testicular ectopia with germ cell testis cancer and hernia uteri inguinalis

“…Nilson firstly defined persistent Mullerian duct syndrome in 1939 (Nilson, 1939). Over 150 PMDS cases have been submitted in the literature, mostly in adults (Crankson & Bin Yahib, 2000; Kshirsagar et al., 2007). PMDS patients are males with normal virilisation with undescended/ectopic testis and with retained Mullerian organs because of a failure in either gene coding for anti‐Mullerian hormone (AMH)/the Mullerian inhibiting substance (MIS) or its receptor, AMH receptor type II (AMHRII).…”