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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).
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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 Tekgü, “EAU Guidelines: Paediatric Urology,” 2022. [Online]. Available: https://uroweb.org/guidelines/paediatric-urology/.
Deutsche Version: Persistierendes Müller-Gang-Syndrom