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Persistent Müllerian Duct Syndrome

Definition:

Male patients (46,XY) have, in addition to their normal male phenotype, the following internal Müller duct derivatives: vagina masculina draining into the prostate, uterus and fallopian tubes, which have contact with the testes.

Etiology:

The cause of persistent Müller duct syndrome is either a lack of secretion of anti-Müllerian hormone by Sertoli cells or resistance of the end organs to anti-Müllerian hormone.

Signs and symptoms:

Children often present with cryptorchidism or inguinal hernia. A fallopian tube is then found during surgical therapy, which can be followed intraabdominally to a uterus. Late presentation in adulthood with pelvic masses is also possible. The risk of malignancy (adenocarcinoma) in retained Müllerian structures is estimated to be 10% (Kathrins et al., 2016).

Therapy:

Laparoscopic orchidopexy and simultaneous removal of Müllerian structures is often recommended: surgery reduces the cancer risk and orchidopexy improves testicular development and facilitates follow-up of the increased germ cell tumor risk. Careful dissection of the vas deferens is vital to preserve fertility (Picard et al., 2017).

References

  Deutsche Version: Persistierendes Müller-Gang-Syndrom