What Is Persistent Müllerian Duct Syndrome?

Persistent Müllerian duct syndrome (PMDS), also known as persistent Müllerian duct, refers to a rare congenital condition in males where the Müllerian (also spelled Mullerian) duct, which typically regresses during embryonic development in males, persists.

During fetal development, both male and female fetuses start with two sets of ducts: the Wolffian ducts and Müllerian ducts. In males, the presence of testosterone causes regression of the Müllerian ducts, leading to the formation of male reproductive structures such as the prostate, seminal vesicles, and vas deferens. Simultaneously, the Wolffian ducts develop into the epididymis, vas deferens, and other male internal genitalia.

In cases of PMDS, the Müllerian duct fails to regress completely in a male fetus. This can lead to a variety of developmental abnormalities and reproductive issues. The exact cause of PMDS is not fully understood, but it is thought to involve certain genetic and hormonal factors.

PMDS can manifest differently depending on the extent and location of the Müllerian duct remnants. Some potential signs and symptoms include:

- Undescended testes

- Inguinal (groin) or perineal hernia

- Cryptorchidism (testicular non-descent)

- Ambiguous genitalia in some cases

- Infertility or reproductive difficulties

- Uterine or fallopian tube remnants found in the abdomen or pelvis

PMDS can be diagnosed through various examinations and tests, such as physical examinations, imaging studies (ultrasound, MRI), and genetic tests. Treatment options depend on the severity and the specific symptoms. It often involves surgical correction to remove any Müllerian duct remnants and address any associated anomalies.

It is essential to consult with medical professionals, such as urologists or reproductive specialists, for proper diagnosis and management of persistent Müllerian duct syndrome to ensure the best outcomes and address any reproductive or health concerns.