Persistent mullerian duct syndrome

Abstract

Persistent Mullerian duct syndrome (PMDS) is a rare form of internal male pseudohermaphroditism in which Mullerian duct derivatives are seen in a male patient. This syndrome is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male patient. In this article we present the USG and MRI features of a case of PMDS with bilateral cryptorchidism and left sided inguinal hernia, containing the uterus and fallopian tubes.

Keywords: Cryptorchidism; MRI; USG; inguinal hernia; mullerian duct derivatives; mullerian inhibiting factor; pseudohermaphroditism.

Figure 1 (a,b)

USG images at the level of the left inguinal region demonstrate the uterus (arrow in a and curved arrow in b) extending toward the left inguinal region, alongside the urinary bladder (UB in a). The endometrial cavity is distended with anechoic fluid (arrow head in b)

Figure 2

USG shows testis (T) in the left inguinal region with uniform low to intermediate internal echoes

Figure 3 (a,b)

Axial T2W images at the level of the urinary bladder demonstrate the uterus extending towards the left inguinal region alongside the urinary bladder (arrow in a, curved arrow in b). The uterus shows hyperintense fluid signals within the endometrial cavity surrounded by a hypointense junctional zone

Figure 4 (a,b)

Axial T1W (a) and T2W (b) MRI images at the level of the sacroiliac joints demonstrate an oval structure with morphology and signal intensity conforming to a testis in the left inguinal region; this is isointense to muscle on the T1W (arrow in a) and hyperintense on the T2W (curved arrow in b) images. The fallopian tube (thin arrow in b) is seen along with the testis

Figure 5 (a,b)

Axial T2W MRI images (a and b) at the level of the acetabulum show a vagina-like structure (arrow in a) extending toward the left seminal vesicle (curved arrow in b) in the next axial section