Domkundwar Shilpa¹, Sahani Suresh Gangaram^2*

¹Professor, ²Resident, Department of Radio-Diagnosis, Grant Government Medical College, Mumbai-400008, Maharashtra, INDIA.

Email: sureshsahani17@gmail.com , shilpadomkundwar@gmail.com

            Figure 1                                                                          Figure 2

               Figure 3                                                                                       Figure 4

Figure 1: The two ultrasound images of 12 year old female presenting with lower abdominal pain. Image on left shows absent left kidney in left renal fossa. Image on the show left hemivagina, left hematocolpos and left uterine horn(hematometra). Figure 2: the MRI HASTE and T2 WI coronal images of the same female patient are shown here. The image on the left shows left renal agenesis. Image on the right shows uterine didelphys , normal right uterine horn (a) , left hematocolpos (b) , left hemivagina distended with blood products(c), right ovary(d) , left ovary(e). Figure 3: The two ultrasound images of 29 year old newly married male presenting with lower abdominal pain. Image on right shows absent right kidney in left renal fossa. Image on the right shows seminal vesicle cyst (a) and urinary bladder (b). Figure 4: CECT coronal and axial section of the same male patient is shown here. The image shows right renal agenesis(a) with compensatory hypertrophy of left kidney(b) and right seminal vesicle cyst(c) and tortuous right ejaculatory duct due to obstruction(d).

DISCUSSION

Both OHVIRA and ZINNER syndrome are mullerian duct developmental anomaly. OHVIRA is an obstructive mullerian anomaly caused by the lateral non-fusion of the mullerian ducts with asymmetrical obstruction. Renal agenesis most commonly occurs in association with uterine didelphys than with any other type of mullerian anomaly. The reported incidence of renal anomalies in this group is 20%.⁹ OHVIRA is classically associated with uterus didelphys.^10,11 Obstructed unilateral vagina in patients with uterus didelphys is frequently associated with ipsilateral renal and ureter agenesis.

The classic triad of OHVIRA-

The OHVIRA syndrome is included in class III of the American Fertility Society classification (Table 1) of congenital uterine anomalies and often consists of uterine duplication, though septate uterus (Class V American Fertility Society classification) has been rarely associated.^12,13

Table 1: American Fertility Society Classification of Female Genital Anomalies.¹³

Recently, HWW syndrome has been classified on the basis of the morphology of vagina (Table 2).[14]

Table 2: Classification of Herlyn-Werner-Wunderlich Syndrome Based on Vaginal Morphology.¹⁴

Class 1 consists of completely obstructed hemivagina with Class 1.1 including blind hemivagina and Class 1.2 including cervicovaginal atresia without communicating uteri. Our case possibly can represent variant of Class 1.2 with didelphus uterus and unilateral cervical atresia. Wolffian duct is located on both sides of the Müllerian duct and plays appears normal. important role in guiding fusion or resorption of wall between the Müllerian ducts. Ureteral bud arises from opening in urogenital sinus of Wolffian duct and any disruption in the development of these ducts can result in renal, uterine, and vaginal anomalies.

Clinical presentation:

Patients may present with lower abdominal pain, dysmenorrhoea, infertility, paravaginal mass, excessive foul smelling mucopurulent discharge and intermenstrual bleeding depending on the existence of uterine or vaginal communications.¹⁵

In patients with palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos), mullerian duct anomalies must be excluded.^16,17 The diagnosis of this rare mullerian anomaly,also known as Herlyn-Werner-Wunderlich Syndrome (HWWS) should be suspected in women who have ipsilateral renal agenesis with a pelvic mass.¹⁸

Diagnosis:

The role of imaging is to help detect, diagnose and distinguish surgically correctable forms of mullerian malformations from inoperable forms.[19] Abdominal or transvaginal ultrasound is cheap and noninvasive, whereas magnetic resonance imaging (MRI) is highly sensitive. The vaginal septum is difficult to visualize on ultrasound and is best shown on MRI.[20]

Complications:

Uterus didelphys has been associated with higher rate of infertility, spontaneous abortion, intrauterine growth retardation, preterm labor and postpartum bleed.²¹ The obstruction of outflow tract may result in retrograde flow of the menstrual products and endometriosis. The superadded infection leads to pyometra and pyocolpos.

Treatment:

The treatment included vaginoplasty with or without metroplasty. Early diagnosis and treatment leads to restoration of fertility and prevention of complications and thus , positive impact on patients’s life.

OSVIRA

Zinner's syndrome, first described in 1914 by Zinner, is a rare congenital malformation of the seminal vesicles and ipsilateral upper urinary tract.^22,23  An insult occurring before the 7th gestation week causes maldevelopment of the distal part of the mesonephric duct producing atresia of both; ejaculatory duct and the ureteric bud ²⁵. The close embryologic relationship between the genital and urinary tracts explains the developmental aberrations leading to this anomaly.

The Mesonephric or Wolffian duct is a paired structure. It forms the male reproductive system as well as the ureteric bud,. The orifice of the distal mesonephric duct and the ureteric bud separates between 6th-8th gestational week, and the ureteric orifice migrates toward the metanephric blastema, whereas the distal part of mesonephric duct forms the hemitrigone ,the bladder neck, the urethra up to the external sphincter, the seminal vesicle, vas deferens, ejaculatory ducts, epididymis, paradidymis, and appendix of the epididymis . This is under the influence of testosterone and anti-Mullerian hormone²⁶. During the 4th to 6th week of gestation, the metanephric blastema secretes growth factors, which induce the growth of the ureteric bud toward it. The ureteric bud too secretes growth factors and proliferates, fusing with the metanephric blastema ,thus , inducing the blastema to become the primitive kidney on undergoing mesenchymal to epithelial transition²⁷. Disturbance in any of these events of induction during the period of embryogenesis like mutation of metanephric blastema, or disruption of retinoic acid signaling, causes inhibition of ureteric bud growth with failure of fusion of the ureteric bud with the metanephric blastema and renal agenesis or renal hypoplasia. Simultaneous failure of the ureteric bud to separate from the lower part of mesonephric duct leads to atresia of ejaculatory ducts and obstruction of the seminal vesicles with accumulation of secretions resulting in cystic dilatation²⁸.

The classic triad of OSVIRA-

Presentation: The patients are usually diagnosed in the 2nd-3rd decade of life and present with symptoms of dysuria (37%), frequency (33%), perineal pain (29%), and epididymitis (27%) ²⁴ or at times found incidentally on imaging for other causes.

Diagnosis: Diagnosis is suspected in patients with above symptoms and the triad is seen on abdominal USG and then confirmed with CT or MRI.

Complications

Ejaculatory duct obstruction leads to the characteristic symptoms of dysuria and causes infertility in this rare developmental anomaly of the male genitor-urinary system.

CONCLUSIONS
Early diagnosis of OHVIRA and OSVIRA syndromes with appropriate surgical intervention leads to restoration of fertility and decreases the long term morbidity. The rarity and unusual presentation of these anomalies may contribute to their diagnostic delay The key to early diagnosis and treatment is a high clinical suspicion on the enumerated complaints in the patient followed by an ultrasonography. Ipsilateral agenesis of kidney should prompt the suspicion of associated mullerian anomaly and vice versa. USG remains the first modality for imaging. It allows diagnosis in nearly all these cases when strict protocols with high level of suspicion are followed. High resolution USG improves the detailed structural evaluation. Absent kidney is a first marker to further evaluation. Trans-rectal USG helps in better visualization of the ejaculatory duct and the seminal vesicles. Usually the findings of USG are well documented and confirmed by MRI or CT. MRI allows easy and multi-planar imaging to delineate pelvic anatomy and the anatomical relations of various structures in all the planes that improves surgical understanding of the abnormality and allows various measurements to be taken. MRI images are more clinician friendly as USG images are not well understood by clinicians. The knowledge about these syndromes amongst radiologist leads to their early diagnosis and creates a positive impact on life.

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