Mullerian Remnants Research Articles

Mayer-Rokitansky-Küster-Hauser Syndrome with Situs Inversus Totalis: A Rare Case Report.

BACKGROUND Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a complex disorder of the female reproductive system that results in an absent uterus and vagina. MRKH syndrome can be an isolated anomaly (typical) or accompanied by other organ anomalies (atypical). Due to the similarity of symptoms with other congenital gynecological diseases, imaging modalities remain the most important tools in establishing the diagnosis by visualizing internal genital and detecting possible organ malformations. CASE REPORT We present a very rare case of a female with primary amenorrhea. Pelvic magnetic resonance imaging (MRI) showed the absence of a uterus and vagina with possible Mullerian remnants, as well as an incidental finding of a right ectopic kidney. Abdominal ultrasonography and chest X-ray showed that the patient also had situs inversus totalis. CONCLUSIONS MRKH syndrome may be associated with situs inversus totalis due to possible early embryologic malformations causing both conditions; however, the exact mechanism is still unknown. This report should serve as a more recent attempt to question whether situs inversus totalis is related to MRKH and to emphasize the importance of imaging modalities, especially MRI, in establishing the diagnosis of MRKH syndrome and the associated malformations.

Imaging of Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome on MRI Examination in dr. Soetomo Hospital.

Introduction: MRKH syndrome represents total or partial agenesis of the uterus and the two-thirds portion of the vagina, with 46XX karyotyping and normal bilateral ovaries and a Fallopian tube. Despite the uterus agenesis, the Mullerian remnants, including uterine buds, fibrous bands, and midline triangular soft tissue, are visible. Magnetic Resonance Imaging (MRI) is a non-invasive modality with 100% accuracy, which is ideal for depicting Mullerian duct anomalies. Materials and Methods: This is a descriptive study using a retrospective approach done in Dr. Soetomo General Hospital Surabaya and has obtained ethical permission. Our samples included 38 data from pelvic MRI acquired from medical records in Dr. Soetomo General Hospital between May 2018 and January 2022. Results: The age group between 21 and 30 constituted a significant proportion of MRKH patients. The location of the right and left uterine buds relative to the ovarium were identified repeatedly in the anterior caudal, appearing isointense in the T2WI sequence. The right fibrous band was evident in 35 patients (94.7%), while the left fibrous band appeared in 35 patients (92.1%). Midline triangular soft tissue was visible in 35 patients (92.1%), showing a hypointense signal, 35 patients (92.1%) with intrapelvic right and left ovaries, and one patient (2.6%) with left endometrioma. The proximal vagina was not apparent in all patients, while 31 patients (81.6%) were shown to have the distal vagina. Conclusion: MRI can yield accurate information in describing anatomical abnormalities in MRKH. Although the findings of this study have been satisfactory, further research entailing larger samples is necessary to correlate the MRI features and surgery outcomes to assess its reliability.

Persistent Mullerian Duct Syndrome with Malignant Conversion of Mullerian Remnant

A case report of a very rare entity of persistent Müllerian duct syndrome with malignant transformation of Mullerian remnant is presented. A twenty-two-year-old phenotypically normal male presented with complain of hematuria and lower abdominal pain. On examination patient had bilateral cryptorchidism and on imaging bilateral duplication of pelvicalyceal system and ureters and left sided ureterocoele. There was a malignant mass lesion with metastatic lymphadenopathy in pelvis. The diagnosis of persistent Mullerian duct syndrome was suspected on MRI pelvis and confirmed by genetic and pathological testings. Risk of malignant transformation of undescended testis and Mullerian remnants increases with age and have impact on psychological health of patient, so early diagnosis becomes crucial.

Colonic Epithelium Type Lining of Prostatic Utricle Cyst—A Rare Entity

Serendipitous detection of midline prostatic cysts is on the rise with the advancement in imaging facilities. They may arise from the Prostatic utricle (PUC), Mullerian ducts remnants, seminal vesicles or prostatic duct. PUC may present as a perineal swelling or with lower abdominal pain and pressure symptoms in case of intrapelvic location. An 18-year gentleman presented with chronic lower abdominal pain and dysuria. An evaluation revealed a midline prostatic cyst communication with the urethra via the PUC opening.

120. Robotic Assisted Laparoscopic Removal of Mullerian Remnants: A Novel Surgical Approach

120. Robotic Assisted Laparoscopic Removal of Mullerian Remnants: A Novel Surgical Approach

English

Persistent mullerian duct syndrome (PMDS) is usually an accidental finding during routine inguinal hernia repair in male patients. Intraoperatively, mullerian remnants consisting of an infantile uterus and fallopian tubes are usually found. Herein we report a case of PMDS in a 3-year-old boy presenting with unilateral undescended testes.The right testis was not palpable and the diagnostic ultrasound shows a non-visualized right testis neither in scrotum nor in the right inguinal region.

MRI evaluation of pelvis in Mayer-Rokitansky-Kuster-Hauser syndrome: interobserver agreement for surgically relevant structures.

Diagnostic role of MRI in Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is well documented. Recent studies have shown the relevance of MRI in detailing the pelvic anatomy, particularly small Mullerian remnants. The results are, however, not consistent and reproducibility of MRI features has not been confirmed. The aim of our study was to evaluate the detailed pelvic anatomy in patients with MRKH syndrome and to calculate the interobserver agreement of the MRI features. The study was carried out on female patients, aged 15-30 years, with primary amenorrhea. Following clinical, gynaecological, endocrinological, ultrasound and chromosomal work-up and a provisional diagnosis of MRKH syndrome, MRI pelvis was performed on 25 patients using a 1.5 T scanner. MRI images were retrospectively reviewed by two radiologists for a detailed evaluation of Mullerian structures (uterine buds, fibrous bands, midline triangular soft tissue), vagina, and ovaries. κ coefficient was calculated as a measure of interobserver agreement. Interobserver agreement was good to excellent (κ: 0.7788 ± 0.2168 to 1 ± 0) for uterine buds and their characteristics, vagina, ovaries and associated renal/vertebral anomalies; poor to fair for fibrous bands (κ: 0.2857 ± 0.3273 to 0.6032 ± 0.2149) and good for midline triangular soft tissue (κ: 0.7826 ± 0.1474). MRI is capable of providing key pre-operative anatomical information in MRKH syndrome non-invasively. There is good to excellent interobserver agreement for MRI features of most of the surgical relevant structures. MRI features of salient preoperative anatomical structures are reproducible between observers.

Epididymal Cyst - A Case Study

Cysts of the epididymis are usually congenital and derived from an embryonic remnant. These cysts are due to cystic degeneration of remnants of the paramesonephric or Mullerian duct and Remnants of the mesonephric duct or Wolffian duct system. Here we report a case of bilateral Epididymal cysts in a middle aged man with a complaint of scrotal lump and infertility since 15 years. He was treated with excision of the cysts under local anaesthesia and had a marked improvement in scrotal discomfort and urgency of micturition after the treatment.

Persistent Mullerian Duct Syndrome: A Single-Center Experience.

Context:Persistent Mullerian duct syndrome (PMDS) is a rare disorder. It is a type of male pseudohermaphroditism, usually presenting as “Hernia Uteri Inguinalis”.Aims:This study aims to present our experience of PMDS, over a 7-year period.Settings and Design:Our center is a tertiary care facility, situated in Tamil Nadu, a southern state of India.Subjects and Methods:This is a retrospective study. The study period was from 2007 to 2015. Seven cases presented during that period. The difficulties in diagnosis, treatment options discussed, along with a review of literature are presented.Results:Seven cases of PMDS presented over 8 years. Only four were diagnosed preoperatively. Mullerian remnants were excised in five cases.Conclusions:PMDS is rare. Orchiopexy should be the goal of treatment.

Laparoscopic Management of Leiomyoma Arising from Müllerian Remnant in Mayer–Rokitansky–Küster–Hauser Syndrome

Abstract Background: Leiomyomas arising from Mullerian remnants are a rare association with few case reports in literature. Most of the case reports have shown management with laparotomy. This report presents a case of a leiomyoma arising in a Mullerian remnant that was managed with laparoscopy. Case: A 33-year-old nulligravida presented with dyspareunia since marriage and an increase in urinary frequency since 3 years prior to presentation with no history of cyclical abdominal pain. Pelvic examination revealed a vaginal length of 7 cm and a 6 × 6 cm, firm right adnexal mass. Magnetic resonance imaging was suggestive of a hypoplastic uterus with a submucosal myoma or a broad ligament myoma. Laparoscopy showed a bilobed leiomyoma arising from the right Mullerian anlage with the right fallopian tube and ovary attached to its postero-superior surface. The bilobed leiomyoma, and the right Mullerian remnant along with the left rudimentary horn and both tubes were removed as a single contiguous specimen. Result...

Persistent mullerian duct syndrome: A 24-year experience

BackgroundPersistence of mullerian duct derivatives in otherwise normal male child is a very rare disorder. This may lead to diagnostic as well as management dilemma. Materials and methodsThe medical record of 27 cases of persistent mullerian duct syndrome (PMDS) operated in three teaching hospitals more than a period of 24years is retrieved and analyzed for demography, clinical presentation, investigations, and treatment. ResultsThere were a total of twenty seven male children with PMDS. The age was ranged between 3months and 19years. Ten patients presented with isolated bilateral UDT, six patients with bilateral UDT and unilateral inguinal hernia (4 left and 2 right sided inguinal hernia), and eight patients presented with right inguinal hernia and left sided UDT. Eight of 27 patients showed familial trends i.e. four pairs of brothers had PMDS in our series. In 21 patients, the diagnosis was made incidentally while operating for UDT and inguinal hernia. At operation 5 patients had female type of PMDS and 22 patients had male type PMDS. In 6 patients (male type), the PMDS was associated with transverse testicular ectopia. In 18 patients the initial operation was performed through inguinal incision with excision of mullerian remnants in the same settings in 12 patients. In 4 patients, straightforward laparotomy performed (familial cases) to excise mullerian remnants. In 5 patients, the PMDS was diagnosed on laparoscopy; initially biopsy of these remnants and gonads was done followed by excision of remnants by laparotomy approach. Biopsies taken from gonads in each patient revealed testicular tissue with variable degree of immaturity and dysplasia. The biopsy of mullerian remnants did not reveal any malignancy. All patients were genotypically male. ConclusionIsolated undescended testes, left UDT and right inguinal hernia, bilateral UDT and unilateral inguinal hernia are the main presenting features of PMDS. About 30% of the patients showed familial tendency. Inguinal exploration for UDT or inguinal hernia, and laparoscopy for UDT reveal incidental findings of mullerian remnants. PMDS can be managed as single stage procedure however two stage procedure including gonadal biopsies in first stage followed by mullerian remnants excision and orchidopexy in the second stage can be opted if there is doubt about gonads and genotype.

An Exceptional Case of Complete Septate Uterus With Unilateral Cervical Aplasia (Class U2bC3V0/ESHRE/ESGE Classification) and Isolated Mullerian Remnants: Combined Hysteroscopic and Laparoscopic Treatment

Study ObjectiveTo report the combined hysteroscopic and laparoscopic treatment of a complete septate uterus with unilateral cervical aplasia (class U2bC3V0/ESHRE/ESGE classification) and isolated mullerian remnants. DesignStep-by-step presentation of the surgical treatment (Canadian Task Force classification 4). SettingComplete septate uterus with unilateral cervical aplasia (formally Robert's uterus) is characterized by the presence of a uterine septum completely dividing the endometrial cavity into an obstructed hemicavity and a contralateral nonobstructing hemicavity connected normally to the existing cervix. It has always been described as isolated without any associated anomaly. PatientA 30-year-old woman was referred to our department for dysmenorrhea and primary infertility. Hysterosalpingography showed the presence of a right (RT) hemiuterus with a patent fallopian tube; further evaluation with 2- and 3-dimensional ultrasound and magnetic resonance imaging showed an externally normal-appearing uterus, a right normal hemicavity connected normally with the existed cervix and, a left hemicavity fully divided from the right one by a complete septum and not connected with the cervix. Interestingly, a peculiar complex mass with cystic areas, attached posterolaterally from the left side to the uterine wall at the level of the isthmus and the upper cervix, was also diagnosed. InterventionsThe study protocol was approved by our local institutional review board. During outpatient hysteroscopy, a right uterine hemicavity with a single ostium was identified without any communication with the left hemicavity. The patient was then scheduled for combined laparoscopic and hysteroscopic treatment. During laparoscopy, a normal uterine body with multiple myomas and a pseudocystic lesion attached posteriorly and left laterally to the uterus at the level of the isthmus and the upper cervix were shown; no communication between the cystic part of that lesion and the isthmus or the cervicovaginal canal was observed. During hysteroscopy, a longitudinal incision of the septum with a 5F bipolar electrode was performed; the left hemicavity was opened, and the corresponding tubal ostium was identified. The pseudocystic lesion was then excised after opening and sent for pathological analysis; the defect was closed with interrupted intracorporeal knots. Measurements and Main ResultsA single normal endometrial cavity with both tubal ostia was obtained, thus restoring obstruction by unification of the uterine cavity. A histologic report of the removed pseudocystic lesion was compatible with the diagnosis of mullerian remnants. A follow-up hysteroscopy 3 months after showed a normal uterine cavity without postsurgical adhesions. ConclusionThe use of 3-dimensional ultrasound and magnetic resonance imaging in combination with the new ESHRE/ESGE classification system gives the opportunity to obtain a precise representation of the female genital anatomy even in the presence of complex anomalies. Although a septate uterus with unilateral cervical aplasia has been already described, the presence of mullerian remnants is a rare entity associated with cyclic pelvic pain, thus needing adequate recognition and treatment. The combined hysteroscopic and laparoscopic approach offers a unique opportunity for the treatment of complex anomalies.

Acute urinary retention caused by seminoma in a case of persistent Mullerian duct syndrome

Urinary symptoms have been described secondary to a pelvic mass originating from the ovary, uterus, cervix, prostate, or rectum. Persistent Mullerian duct syndrome is a rare form of intersex disorder, characterized by the presence of uterus and fallopian tubes in an otherwise 46 XY male. We report an adult male with bilateral cryptorchidism and a pelvic mass, who presented with acute urinary retention, and was diagnosed with a seminoma of the right testis, intratubular germ cell neoplasia of the left testis with the presence of Mullerian remnants. Pelvic mass was caused due to seminoma is a rare cause of urinary retention.

6. Extragenital primary malignant mixed mullerian tumour - A case presentation

<h3>Background</h3> Malignant mixed mullerian tumour (MMMT) is an uncommon, often aggressive malignancy of the female reproductive system, typically arising from the uterus. Histologically, this neoplasm exhibits a biphasic tissue pattern with sarcomatous and carcinomatous elements. Whilst this tumour is known to metastasise outside of the reproductive tract, case reports of its occurrence as an extragenital primary malignancy are exceedingly rare. <h3>Case</h3> The following case was seen in 2013 at the Gold Coast Hospital, Queensland. A 67-year-old woman presented to the surgical outpatient clinic complaining of several months of increasing abdominal discomfort. She reported a past history of ER/PR negative breast cancer, which was treated with surgery (unilateral mastectomy) and chemotherapy. She had also undergone a total hysterectomy and bilateral salpingo-oophorectomy many years earlier for abnormal per-vaginal bleeding. After further investigation, she was found to have a large intraabdominal mass within her right iliac fossa, adhered to the anterior abdominal wall. The 23 × 19 cm mass was surgically removed. Macroscopic examination revealed a blood-filled cystic lesion with a thickened wall and necrotic internal lining. Microscopic examination showed predominantly sarcomatous tissue composed of spindle cells, with interspersed nests and trabeculae of malignant epithelial cells, together suggestive of carcinosarcoma. Further immunohistochemical staining confirmed this diagnosis. <h3>Discussion</h3> Given this woman's history of a hysterectomy and bilateral salpingo-oophorectomy more than 30 years prior to this presentation, the favoured diagnosis was an extragenital primary MMMT (as opposed to metastatic disease), potentially arising from pre-existing endometriosis, or from mullerian remnants. There are very few case reports of this particular diagnosis, and as such the subsequent paucity of effective treatment options means this malignancy continues to carry an overall poor prognosis.

Magnetic Resonance Evaluation of Müllerian Remnants in Mayer-Rokitansky-Küster-Hauser Syndrome

ObjectiveTo analyze magnetic resonance imaging (MRI) findings of Müllerian remnants in young females clinically suspected of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome in a primary amenorrhea workup.Materials and MethodsFifteen young females underwent multiplanar T2- and transverse T1-weighted MRI at either a 1.5T or 3.0T MR imager. Two gynecologic radiologists reached consensus decisions for the evaluation of Müllerian remnants, vagina, ovaries, and associated findings.ResultsAll cases had bilateral uterine buds in the pelvic cavity, with unilateral cavitation in two cases. The buds had an average long-axis diameter of 2.64 ± 0.65 cm. In all cases, bilateral buds were connected with fibrous band-like structures. In 13 cases, the band-like structures converged at the midline or a paramedian triangular soft tissue lying above the bladder dome. The lower one-third of the vagina was identified in 14 cases. Fourteen cases showed bilateral normal ovaries near the uterine buds. One unilateral pelvic kidney, one unilateral renal agenesis, one mild scoliosis, and three lumbar sacralization cases were found as associated findings.ConclusionTypical Müllerian remnants in MRKH syndrome consist of bilateral uterine buds connected by the fibrous band-like structures, which converge at the midline triangular soft tissue lying above the bladder dome.

A rare case report of 46XY mixed gonadal dysgenesis

A 16-year-old person, reared as female presented with complaints of genital ambiguity and primary amenorrhoea along with lack of secondary sexual characters, but without short stature and Turner's stigmata. She was taking steroids after being misdiagnosed as congenital adrenal hyperplasia (CAH). Karyotype analysis revealed 46XY karyotype. There was no evidence of hypocortisolemia (cortisol 9.08 μg/dl, adrenocorticotropic hormone [ACTH] 82.5 pg/ml) or elevated level of 17-OH-progesterone (0.16 ng/ml). Pooled luteinizing hormone (LH) was 11.79 mIU/ml and follicle-stimulating hormone (FSH) was 66.37 mIU/ml. Serum estradiol level was 25 pg/ml (21-251). Basal and 72 h post beta-human chorionic gonadotropin (hCG) levels of androstenedione and testosterone levels were done (basal testosterone of 652 ng/dl and basal androstenedione of 1.17 ng/ml; 72 h post hCG testosterone of 896 ng/dl and androstenedione of 1.34 ng/ml). Magnetic resonance imaging (MRI) pelvis (with ultrasonogrphy [USG] correlation) revealed uterus didelphys with obstructed right moiety and bilateral ovarian-like structures. Right sided gonads and adjacent tubal structures were visualized laparoscopically and removed. Left sided gonads were not visualized and Mullerian remnants were adhered to sigmoid colon. Histopathological examination revealed presence of testicular tissue showing atrophic seminiferous tubules with hyperplasia of Leydig cells. No ovarian tissue was seen. Based on these results a diagnosis of 46XY mixed gonadal dysgenesis (MGD) was made, which is rare and is difficult to distinguish from 46XY ovotesticular disorder of sexual differentiation (OT-DSD). The patient was managed with a multidisciplinary approach and fertility issues discussed with the patient's caregivers.

Clear cell adenocarcinoma of the male urethral tract

We present a rare case of clear cell adenocarcinoma of the male bulbomembranous urethra. Mostly these tumors have been described in the female urethral tract with its possible origin from mullerian remnants, wolffian remnants or paraurethral glands. Histologically, these tumors have typically tubulocystic pattern comprising of hobnailed cells with clear glycogenated cytoplasm along with well-defined cytoplasmic membranes. This case is being presented due to its rarity, aggressive behavior and to discuss, trauma as its possible etiological factor.

An unusual case of ambiguous genitalia

Introduction: Mixed gonadal dysgenesis is most commonly associated with a mosaic 45X/46XY karyotype. The clinical phenotype may range from almost complete female or male external genitalia to ambiguous genitalia. The internal genitalia may be composed of dysgenetic testis on one side and a streak gonad on the contralateral side, however there can be varying configurations as well. The uterus and fallopian tubes are generally ipsilateral to the streak gonad and these retained Mullerian remnants are common. The presence of 45X may present with Turner like features including cardiac, renal anomalies and short stature. Case Report: We describe a case of ambiguous genitalia secondary to mixed gonadal dysgenesis where the sex assignment was made before the final diagnosis was reached. Conclusion: The diagnosis of mixed gonadal dysgenesis can be difficult for families. A multidisciplinary approach must be established for the patient and family while incorporating the psychosocial aspects also.

Unusual Presentation of a Mullerian Remnant in an Infant with Recurrent Epididymo-orchitis

Mullerian duct remnants result from incomplete regression, a defect that occurs during sexual differentiation. Ninety percent of patients with mullerian remnants also have an associated disorder of sexual differentiation such as hypospadias. Presenting signs and symptoms are recurrent bladder infection, perineal pain, dysuria, or infertility. The purpose of this case report is to recount an unusual presentation of a mullerian duct remnant with recurrent epididymo-orchitis and to discuss the embryology, diagnosis, and management of this condition.

Cutaneous ciliated cyst in the subcutaneous area

A 25-year-old woman was seen for a painless subcutaneous mass of 2 years duration. On excisional biopsy, a collapsed cystic structure lined by stratified, ciliated, columnar epithelium was noted. These linning cells did not produce mucin. Immunohistochemical staining for progesterone receptor, estrogen receptor and epithelial membrane antigen was positive, whereas it was negative for carcinoembryonic antigen. Findings were consistent with cutaneous ciliated cyst (CCC). CCCs are rare, predominantly occurring on the lower extremities of young women. Most of them have been regarded as Mullerian remnants. A case of a CCC in the subcutaneous area is reported.