Mayer-Rockitansky-Kuster-Hauser Syndrome Presenting as Irreducible Inguinal Hernia

Inguinal hernia is the most common type of hernia experienced in the surgical OPD due to the muscular anatomy of the region being weak along with the natural weaknesses like deep ring with indirect hernia being more common than direct. Inguinal hernias may have varying unusual sac contents, a case presentation of rudimentary uterus and ovaries as contents of inguinal hernia in an adult female with Mayer-Rokitansky-Kuster-Hauser (MRKH) type II syndrome. This syndrome may be attributed to abnormal development of blastema of cervicothoracic somites and pronephriducts.     

Mayer Rokitansky Kuster Hauser syndrome with urogenital sinus anomaly

Mayer Rokitansky Kuster Hauser (MRKH) syndrome is a rare disorder, characterized by the congenital absence of uterus and associated renal tract anomalies. The case presented with primary amenorrhea and primary infertility, despite development of normal female secondary sexual characteristics. CT scan revealed absent uterus, a solitary left sided pelvic kidney and a vesicovaginal communication that, on cystoscopy, revealed urogenital sinus anomaly manifesting as a common channel formed due to absent anterior wall of vagina and posterior wall of urethra. The urogenital sinus anomaly in MRKH syndrome has not been reported earlier.     

Ureteral switch for bilateral ureteropelvic junction obstruction in a case of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina. Secondary sexual characteristics and karyotype are normal. This syndrome affects at least 1 out of 4500 women.MRKH may be isolated (type I) but it is more frequently associated with other malformations (MRKH type II).We present a typical case of MRKH type II associated with bilateral pelvic kidneys ectopia, ureteropelvic junction (UPJ) obstruction and high inserting ureters. The ureteral switch was performed at the time of pyeloplasty to prevent postoperative obstruction secondary to the angulation.     

Renal abnormalities in Mayer-Rokitanski-Küster-Hauser syndrome

Mayer-Rokitanski-Kuster-Hauser (MRKH) syndrome, is a rare disorder characterized by the congenital absence of the uterus and vagina. The prevalence has been reported as one in 4000-5000 female births. Patients with MRKH syndrome have a 46.XX karyotype and normal secondary sex characteristics. The external genitalia appear normal, but only a shallow vaginal pouch is present. Ovarian function is normal. A 54-year-old woman came to our observation for the treatment of arterial hypertension. Her history involved primary amenorrhea and sterility. She had undergone abdominal and pelvic sonography as a routine screening and they had shown the absence of the uterus, left renal agenesis and a contralateral pelvic kidney. These findings were confirmed by urography and CT scan of the abdomen. Gynecologic examination showed a small vaginal pouch (2 cm). Thus, the diagnosis of MRKH syndrome with associated congenital anomalies of the upper urinary tract was made for the first time in this lady at the age of 54 years. Associated congenital anomalies of the upper urinary tract are reported to occur in 30-40% of all cases of MRKH syndrome. No specific figures are available on what percentage of women with missing kidney might also have MRKH syndrome. However, in 40-50% of patients with renal agenesis, an associated genital anomaly has been found. In conclusion, this report is intended to remind our community of the existence of congenital renal abnormalities associated with gynecologic abnormalities, a field of nephrology usually amply neglected.     

Management of an unusual case of atypical Mayer–Rokitansky–Kuster–Hauser syndrome,with unilateral gonadal agenesis,solitary ectopic pelvic kidney,and pelviureteric junction obstruction

Congenital absence of uterus and vagina, Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome, is mullerian agenesis and is the second most frequent cause of primary amenorrhea. Only atypical form of MRKH (type B) is associated with renal skeletal and ovarian abnormalities. We report the management of an unusual case of atypical MRKH, unilateral gonadal agenesis, and solitary ectopic pelvic kidney with pelviureteric junction obstruction (PUJO). After doing thorough Medline search, to the best of our knowledge, this is the first case reported with this combination.     

Mayer-Rokitansky-Kuster-Hauser syndrome and anal canal stenosis: case report and review of literature

Mayer-Rokitansky-Kuster-Hauser (MRKH) is a characteristic syndrome in which the mullerian structures are absent or rudimentary. It is also associated with anomalies of the genitourinary and skeletal systems. There are very few cases reported regarding its association with anorectal malformations, particularly perineal fistulas. To the best of our knowledge, there have not been any reported cases of anal canal stenosis in patients with MRKH. We describe a very rare association of MRKH with anal canal stenosis and multiple renal calculi. The patient underwent corrective surgery for the anomalies and removal of renal calculi. She has been under regular follow-up for the last few months and is doing well.     

Acute abdomen in a case with noncommunicating rudimentary horn and unicornuate uterus.

Unicornuate uterus with a rudimentary horn is the rarest congenital anatomic anomaly of the female genital system, causing many obstetrical and gynecologic complications. The frequency of this pathology is approximately 1/100 000. A rudimentary horn usually develops following insufficient development of mullerian ducts. These patients present with dysmenorrhea, dyspareunia, and chronic pelvic pain because of endometriosis and rarely with acute abdominal symptoms following distention and torsion of the noncommunicating rudimentary horn. The case of a patient referred for acute abdomen after distention of a noncommunicating rudimentary horn is presented herein.     

Laparoscopic excision of a rudimentary uterine horn in a child

Unicornuate uterus with a rudimentary horn is the rarest congenital anomaly of the female genital system. It can result in a variety of gynecologic and obstetric complications. This case report is an acute presentation of a cavitated, noncommunicating, rudimentary horn in a premenarchal girl. Successful laparoscopic excision was performed. The full extent of the anomaly was diagnosed by a combination of operative findings and postoperative magnetic resonance imaging.     

Male pseudohermaphroditism by persistent müllerian structures

We have studied 2 cases of nonfamilial male pseudohermaphroditism by persistent müllerian ducts. The first case, found in a fourteen-year-old male, can be described as the classic form of cryptorchism which resisted hormonal treatment and in which a rudimentary uterus with fallopian tubes and atrophic testicles were found at exploratory laparotomy. The second case was discovered in a thirty-nine-year-old man who had bilateral cryptorchism. He presented with an abdominal mass which was found to be a seminoma in the right intra-abdominal testicle, and a well-defined uterus with fallopian tubes and an atrophic left testicle were seen. Neither case presented phenotype disturbances. Both karyotypes were 46 XY. A total resection of the female sexual organs and testicles was performed in both patients, and the mass was removed in the second case. The tumoral degeneration of the intra-abdominal testicles in this syndrome is found in similar proportion to the simple cryptorchid testicles. Our second case is the tenth one of a testicular tumor in pseudohermaphroditism by persistent müllerian ducts to be reported in the literature.     

Mayer-Rokitansky-Kuster-Hauser syndrome with H-type anovestibular fistula

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by Mullerian duct structures agenesis. Anorectal malformations are uncommonly associated with MRKH syndrome, and among them, rectovestibular fistula and cloacal malformations have been commonly described. H-type of anovestibular fistula associated with MRKH syndrome has not been reported previously. One such case along with its treatment is reported.     

Herlyn Werner Wunderlich syndrome: A case of obstructed hemivagina with ipsilateral renal agenesis (OHVIRA syndrome) and didelphic uterus

We report a rare case of obstructed hemivagina and ipsilateral renal agenesis (OHVIRA) syndrome with a didelphic uterus. A 22-year-old female presented with infertility for one year. Imaging studies revealed an absent left kidney, massive hematometrocolpos on the left side with normal other side. She was diagnosed with OHVIRA syndrome. She underwent septostomy of the vaginal septum, drainage of hematometrocolpos and hysterolaparoscopy that showed a bicornuate uterus and hematosalpinx. Given the rarity of the syndrome it is frequently misdiagnosed. Delayed diagnosis can lead to endometriosis.     

Diagnostic laparoscopy in a twelve year old girl with right iliac fossa pain: A life changing diagnosis of complete androgen insensitivity syndrome

INTRODUCTION

Right iliac fossa (RIF) pain is one of the most common presenting complaints faced by general surgeons in the emergency department. Correct diagnosis and appropriate surgical intervention can often pose a challenge.

PRESENTATION OF CASE

A 12-year-old girl presented to the emergency department with a four day history of initially central acute abdominal pain, now localised in the RIF. During laparoscopy, the following findings were made: macroscopically dilated appendix, right and left gonads at the internal opening of the inguinal canal, empty pelvis with a rudimentary uterus on the right side. No evidence of fallopian tubes or connection of uterus to the vagina and broad based, non-inflamed Meckel''s diverticulum. An incidental diagnosis of complete androgen insensitivity syndrome was made.

DISCUSSION

Androgen insensitivity syndrome (AIS) is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY karyotype and testes producing age-appropriate normal concentrations of androgens.

CONCLUSION

This case report highlights the advantage of laparoscopy as a diagnostic and treatment tool in a twelve year old girl with multiple intra-abdominal findings. While the ultimate diagnosis responsible for her symptom of RIF pain was acute appendicitis, the additional diagnosis of CAIS and incidental Meckel''s would have otherwise likely gone undetected.     

Incomplete testicular feminization syndrome. A case occurring in a family with frequent hypospadias

The case of a 16-year-old patient with incomplete testicular feminization syndrome is reported. The patient had phenotypically female genitalia except for clitoromegaly. Hormonal examinations revealed low plasma testosterone levels but a normal concentration of 5 alpha-dihydrotestosterone, and radiological and surgical examinations revealed no development of Müllerian structures including the uterus and the adnexa. This happened in a family with a frequent occurrence of both hypospadias and cryptorchism.     

Scrotal hysterectomy in a male patient with mixed gonadal dysgenesis 46,XY(75%)/45,X(25%)

We report on a 20-year-old man in whom endocrinological investigation owing to dysmorphic signs characteristic for Turner syndrome revealed mixed gonadal dysgenesis. The patient was referred to us for further diagnostic investigations on a right intrascrotal tumour. Both testes were intrascrotal and hypotrophic with normal testosterone production. Surgical investigation showed a circumscribed tumor that proved to be a rudimentary uterus without evidence of malignancy at histological examination. Biopsies from both tested showed no signs of malignant disease. After removal of the tumor, we decided not to remove the testes prophylactically because of the male phenotype and the sufficient testosterone production.     

A case of Mayer-Rokitansky syndrome

The Mayer-Rokitansky syndrome has been generally defined as a congenital absence of the vagina in genotypic and phenotypic female subjects with normal endocrine status. Many authors have reported that urological anomalies associate commonly with this syndrome, but recently a new concept of this syndrome was proposed by Tarry and associates. They considered the embryogenesis of the Müllerian system and recognized a spectrum of Müllerian anomalies without total vaginal agenesis as this syndrome. They also proposed a new classification of this syndrome (Müllerian grade) considering grade of Müllerian anomaly. We experienced a 14-year-old girl who had uterus didelphys, left hematocolpos due to ipsilateral vaginal agenesis and agenesis of the left kidney, and herein report this case as Mayer-Rokitansky syndrome. In addition to Tarry's classification, we propose another embryologic classification for Müllerian anomalies considering the period of faulty differentiation in this syndrome: type A-faulty differentiation of the mesonephros (before week 4), type B-faulty differentiation of the mesonephric duct (week 4 to 5), type C- faulty differentiation of the paramesonephric duct only (after week 6).     

Rupture of non-communicating rudimentary uterine horn pregnancy

Unicornuate uterus with rudimentary horn is a rare type of uterine malformation associated with obstetrical complications. Rupture of pregnant rudimentary horn is the usual presentation resulting in severe haemoperitoneum with increased maternal morbidity, and at times, mortality. A case of ruptured rudimentary horn pregnancy in a 24-year-old, second gravida, is reported. Exploratory laparotomy revealed a ruptured rudimentary horn pregnancy of 14 weeks gestation with haemoperitoneum. Excision of the rudimentary horn was done and an uneventful recovery followed.     

Intestinal obstruction caused by an ectopic fallopian tube in a child: case report and literature review

The authors present the case of a prepubertal 14-year-old girl who was admitted for an acute abdominal pain, fever, and vomiting. She was in a poor general state, having recently suffered a weight loss of 5 kg. A plain abdominal x-ray disclosed signs of mechanical ileus. An abdominal ultrasound scan showed a normal uterus, a normal right-sided ovary, but no left ovary. An emergency laparoscopy found a normal uterus with complete absence of the left ovary and salpinx, the upper left dome of the uterus being smooth with no visible horn. The right ovary and salpinx were normal. Intestinal obstruction was caused by a strangulating cordlike structure of unclear origin. After converting to a laparotomy, we found an abnormal fallopian tube inserted in the left parieto-colic groove. The tube extended next on the lateral sigmo?d mesentery and wrapped itself around the ileum, provoking a local strangulation and an ischemic covered bowel perforation. The bowel perforation was treated by a segmental bowel resection. Careful dissection of the cordlike structure disclosed a true rudimentary fallopian tube with hypotrophic fimbriae and a small distal round structure containing ovarian tissue. These structures were removed entirely. A review of the literature on this rare situation is presented and discussed.     

Mayer-Rokitansky-Küster-Hauser syndrome presenting as vaginal atresia: report of two cases

Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome) is characterized by Müllerian duct structures agenesis: the vagina atresia is the commonest variant. There can be some anomalies associated, such as renal, skeletal, spine malformations and others. Patients with MRKH can show different presentation from newborn period to adolescence. We report our experience in treatment of the vaginal atresia presenting in two young girls as a sign of MRKH syndrome.     

Ruptured ectopic pregnancy in rudimentary horn of the uterus

Rudimentary horn is one of the rarest congenital uterine anomalies and consists of a relatively normal appearing uterus on one side with a rudimentary horn on the other side. It is difficult to diagnose before surgery and hazardous to maternal life as rupture of pregnant horn result in severe hemoperitoneum. Case of rudimentary horn pregnancy is reported in a lady with history of habitual abortion and signs and symptoms of acute adnexal pathology. Exploratory laparotomy revealed ruptured rudimentary horn pregnancy. Excision of accessory horn was done.     

Left-sided sacrospinous ligament suspension for treating recurrent sigmoid neovagina prolapse

Numerous techniques for surgical creation of a neovagina have been described for treating Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Sigmoid vaginoplasty is one well-described technique with satisfactory long-term outcomes. However, there are several case reports of subsequent prolapse of the sigmoid neovagina, which presents a unique challenge for surgical repair, as the associated mesentery can also be involved and is at risk during repair. We present a patient with MRKH syndrome and recurrent sigmoid neovagina prolapse who had undergone four prior attempts at repair. In all prior attempts, recurrence of her prolapse occurred within 3 months of the antecedent surgery. We describe the first report and successful long-term treatment of recurrent sigmoid neovagina prolapse using a left-sided sacrospinous ligament suspension.