2008) 314–317

Clinical Imaging 32 (

Female form of persistent müllerian duct syndrome: MDCT findings

Alberto Clementea, Veronica Macchib, Massimiliano Berrettac, Aldo Morrad,⁎

aDepartment of Radiology, University of Ferrara, ItalybDepartment of Human Anatomy and Physiology, Section of Anatomy, University of Padova, Italy

cDivision of Medical Oncology, National Cancer Institute, Aviano, ItalydDepartment of Radiology, Euganea Medica Diagnostic Centre, Padova, Italy

Received 25 October 2007; accepted 13 November 2007

Abstract

Persistent müllerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism. Two anatomic forms are described in thissyndrome, the male and the female one; the second one is usually associated with bilateral cryptorchidism. About 150 cases are reported inliterature; most of them are focused on anatomical, genetic, and surgical aspects. Radiological imaging features, important for diagnosis andtherapy planification, are rarely reported. We describe a case of a female type of PMDS studied with multidetector computed tomography.© 2008 Elsevier Inc. All rights reserved.

Keywords: Genitourinary system, abnormalities; Testis, undescended; CT, spiral; Computer applications, 3D

1. Introduction

Persistent müllerian duct syndrome (PMDS) is a rare formof male pseudohermaphroditism in which müllerian ductderivatives are present in an otherwise normally differen-tiated 46,XY male [1]. This syndrome is secondary to aninsufficient amount of antimüllerian hormone or to aninsensitivity of the target organ to this factor [2–5]. Althoughthere are more than 150 cases reported in literature [3–8],most reports are focused on genetic, molecular, or surgicalaspects [9,10]. Radiological imaging presentations are rare[2,3,8,11,12].

We report a case of female-type PMDS with associatedbilateral cryptorchidism, studied with multidetector com-puted tomography (MDCT).

⁎ Corresponding author. Department of Radiology, Euganea MedicaDiagnostic Centre, 35020 Albignasego, Padova, Italy. Tel.: +39 0498044836, fax: +39 049 8044801.

E-mail address: aldo.morra@euganeamedica.it (A. Morra).

0899-7071/08/$ – see front matter © 2008 Elsevier Inc. All rights reserved.doi:10.1016/j.clinimag.2007.11.002

2. Case report

In 1998, a 27-year-old phenotypically and karyotypicallynormal virilized man with bilateral absence of testis in thescrotum and lower-than-normal range of sexual hormonalvalues underwent CT scan. CT images were useful for theidentification of two intra-abdominal structures, located inthe right and the left side of the pelvis, with the right one nearthe inguinal canal and the left near the rectum; both of themwere referred as testis. The presence of an abnormalelongated tubular structure near the middle line, locatedbetween the rectum and the urinary bladder, was alsoreported (Fig. 1A–C).

At surgery, orchidopexy was performed in laparoscopyand the abnormality was not resected. Hormonal therapy wasthen established.

Eight years later, the patient was referred for a new CTexamination for undefined and acute abdominal pain andhigh erythrocyte sedimentation rate (50 mm/h). CT scan wasperformed using a 16-row multidetector scanner (LightSpeed4× CT scanner, General Electric Company, Milwaukee, WI,USA) with the following parameters: craniocaudal acquisi-tion; slice thickness, 3.75 mm; table increase, 27.50 mm;

Fig. 1. Axial contrast-enhanced CT images (1998, before surgery), portalphase (80 s), showing (A) the right testis (arrow), (B) the left testis (arrow)and an abnormal enlarged structure (pointed arrow), and (C) the caudalportion of the same tubular structure (pointed arrow) located between theurinary bladder and the rectum.

Fig. 2. Axial contrast-enhanced CT images (2006, after surgery), late phase(∼230 s), showing (A) cranial axial plane: a triangular retrovesical structurewith a central circular hypodensity (pointed arrow) and (B) caudal axialplane: a tubular structure (pointed arrow) between the urinary bladder andthe rectum.

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tube voltage, 120 kV; tube current, 360 mA; tube rotationtime, 800 ms; 120 ml of low-molecular-weight, nonionic,iodinated (350 mg I/ml) contrast agent, injected intrave-nously at 3 ml/s, followed by a 50-ml saline chaser bolus, viaa catheter placed in the cubital vein; imaging acquisition wasobtained before and after contrast medium injection. Theimages were then reconstructed with a 1.25-mm slicethickness to obtain multiplanar reformatting (MPR) and 3Dvolume rendering (VR) images.

The parenchymal organs and the prostate gland showednormal results. A lower abdominal “uterus-shaped” masswith tubular structure at the ventral side of the urinarybladder (Fig. 2A and B) was evidenced.

The evaluation of previous CT images and the uterus-shaped aspect of the abnormality suggested a diagnosis ofPMDS (Fig. 3A–C).

3. Discussion

PMDS is a rare form of internal male pseudohermaph-roditism characterized by the presence of müllerian deriva-tives, such as fallopian tubes, uterus, and the upper one-thirdof a vagina, in otherwise normal virilized XY patients.

PMDS was first described by Nilson in 1939 [1]. Thereare more than 150 cases reported in literature, but itsprevalence has probably been underestimated because in thepast, surgical correction of undescended testis was notalways undertaken and the presence of müllerian derivativesmay not have been identified correctly.

PMDS is caused by a deficiency of müllerian inhibitingfactor (MIF) [13] released from Sertoli cells in the malefetus, which is responsible for the regression of müllerianducts in the 8th to 10th weeks of gestation, or is caused byinsensitivity of the target organ for this factor [2,5].

In a human fetus, both müllerian and wolffian ducts arepresent at the seventh week of gestation. Müllerian ducts and

Fig. 3. Parasagital MPR (A) and VR (B) images showing the entire abnormaluterus-shaped structure (pointed arrow) located between the urinary bladderand the rectum (arrowhead). Note: the thickened caudal wall simulatingobstruction is related to partial volume effect. (B) VR sagittal view of theuterus-shaped structure; (C) VR coronal oblique view showing the uterus-shaped structure (pointed arrow) and the left ductus deferens (arrow).

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wolffian ducts are the rudiments of the female and malereproductive tracts, respectively.

In the XY fetus, the testis differentiates by the end of theseventh gestational week. Sertoli cells begin to secrete MIF,which is responsible for the regression of the müllerianducts. Normal sex differentiation in males is controlled by

testosterone and MIF, both of which are produced by thefetal testes. Testosterone has a direct local effect on thewolffian ducts, including differentiation into the epididy-mides, vas deferens, and seminal vesicles. Formation of theurogenital sinus and male external genitalia requires in situconversion of testosterone into dihydrotestosterone. PMDSpatients develop both wolffian and müllerian structures dueto a deficiency in MIF.

Two anatomic conformations, the male form and thefemale form, are well described in this syndrome [14,15].

The male form, also called hernia uteri inguinalis, ismore commonly encountered (80–90%) and is character-ized by unilateral cryptorchidism with a contralateralinguinal hernia. The male form of PMDS can be furthercategorized into two clinical conditions, depending on thecontents of the hernial sac. The first condition, hernia uteriinguinalis, is typically characterized by a descended testisand herniation of the ipsilateral corner of the uterus and theipsilateral fallopian tube into the inguinal canal. The secondcondition, known as crossed testicular ectopia, is character-ized by herniation of both testes and fallopian tubes and theentire uterus.

The female form is encountered in only 10–20% of casesand is characterized by bilateral cryptorchidism, with theuterus fixed in the pelvis and both testes embedded in theround ligaments in an “ovarian” position. It has beensuggested that the mobility of the müllerian structures is animportant factor in the development of the different clinicalconditions in PMDS. If the uterus and fallopian tubes arefreely mobile, they may be pulled into the inguinal canalduring testicular descent, or, if the müllerian structures arerelatively fixed, testicular descent may be impeded, resultingin testicular ectopia [16].

Diagnosis of PMDS is based on a combination ofanatomic and clinical findings. Imaging features, althoughrarely encountered, are characteristic.

When an elongated tubular structure is identified behindthe urinary bladder in a male with normally virilized externalgenitalia, the diagnosis of this rare syndrome can be made. Incases of bilateral cryptorchidism, the testes are usually foundin the position in which the ovaries are generally located[17,18]. Although we had no histological proof, in our case,surgical evidence from prior surgical observation andbilateral cryptorchidism were enough diagnostic argumentsfor the diagnosis.

MDCT imaging in sagittal and coronal sections wasuseful in showing the longitudinal extent of the abnormalanatomic structures (atrophic remnants of the müllerian duct,fallopian tubes, vagina, and uterus), and axial images revealthe relationship of these structures to the adjacent pelvicorgans (bladder and prostate).

There had been no reports of malignant tumor arisingfrom the müllerian remnants at the time [4,5,7], and in ourcase, surgical removal was considered unnecessary. How-ever, long-term follow-up may be necessary because a singlecase of malignant change of the persistent müllerian duct

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structure was reported [19]; due to the patient's age, wedecided to use magnetic resonance in subsequent follow-ups.

In conclusion, PMDS is a rarely encountered form ofmale pseudohermaphroditism. It is usually unexpectedlyfound at surgery for cryptorchidism or inguinal hernia.Familiarity with the imaging findings of this syndrome isimportant for adequate preoperative planning to avoiddamage of fertile testes and vasa deferentia. MDCT imagingsuggested the diagnosis of PMDS, and it is an excellent toolfor the visualization of the complex pelvic anatomy using theMPR images.

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