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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 Müllerian 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:

Inguinal orchidopexy and laparoscopic 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

J.-Y. Picard, R. L. Cate, and C. Racine, “The Persistent Müllerian Duct Syndrome: An Update Based Upon a Personal Experience of 157 Cases.,” Sexual development, vol. 11, no. 3, pp. 109–125, 2017.

C. Radmayr, G. Bogaert, H. S. Dogan, and Tekg&uuml, “EAU Guidelines: Paediatric Urology,” 2022. [Online]. Available: https://uroweb.org/guidelines/paediatric-urology/.

  Deutsche Version: Persistierendes Müller-Gang-Syndrom

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