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.

Giant hysteromyoma after vaginoplasty in a woman with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: case report and review of the literature.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital disorder characterized by congenital absence of both the uterus and vagina. Some patients require surgery to create a neovagina, however, the preservation of a nonfunctional rudimentary uterus after surgery may lead to long-term complications. Herein, a rare case of a giant hysteromyoma after vaginoplasty, in a 31-year-old Chinese female patient who was diagnosed with MRKH syndrome, is reported. The patient, who had undergone vaginal reconstruction 4 years previously, presented with abdominal distension for the previous 2 weeks. Transabdominal ultrasonography showed a firm mass of approximately 10 × 10 cm in the lower abdomen. The patient subsequently underwent an exploratory laparotomy, and a leiomyoma from her rudimentary uterus was removed. Beside this case, seven cases, published between 2004 and 2020, were identified during a literature search. Findings of the present and previously published cases suggest that gynaecologists should pay particular attention to the risks of pelvic complications in female patients with MRKH syndrome who have previously undergone surgery, and select appropriate therapeutic methods.

A case of neovagina surgical creation using the uterine cervix remnant in a patient with Mayer-Rokitansky-Küster-Hauser syndrome.

OBJECTIVE: To study the efficacy of a novel approach to vaginoplasty in a patient with vaginal aplasia and a preserved cervix. DESIGN: We present the case of a 28-year-old patient who was referred with a history of absent menstruation and vaginal intercourse was absent as well as abnormal development of the internal genitals. The patient underwent a laparoscopic cystectomy in 2012 because of an ovarian cyst and later that year underwent laparotomic supracervical hysterectomy with bilateral salpingectomy because of severe pain caused by a hematometra in their uterine remnant. In the period from 2013 to 2016, multiple pelvic ultrasound examinations revealed a fluid structure in the pelvis. By 2020, the size of the lesion had increased to 10 cm on average. A computed tomography scan and magnetic resonance imaging showed a mucinous lesion in the lower part of the patient's pelvis resembling the cervical origin. No pathology of the urinary tract was found. A laparoscopic approach was chosen to achieve the two main goals of the patient-the possibility of vaginal intercourse and the treatment of the intraabdominal lesion. The procedure started with a vaginal step when the neovagina dissection was performed as in the classical Davydov technique up to the beginning of the dilated cervical remnant. Bilateral ureterolysis was performed laparoscopically to prevent ureteral injury. The peritoneum was widely dissected from both the anterior and posterior surfaces of the uterine cervix, which appeared as a large structure filled with typical cervical mucus. Partial dissection of the sacrouterine and ovarian ligaments on both sides was performed to mobilize the cervix. A transverse incision of the cystically dilated cervix in the cranial part was performed and the edges of the incision were brought down to the introitus of the vagina. The cervicovulvar anastomosis was fixed by separate sutures with Vicryl 2-0. SETTING: The surgery was performed in an inpatient setting equipped with conventional laparoscopic instruments, a 30-degree laparoscope, a high-definition video system, xenon light source, insufflator, irrigator, and bipolar and monopolar energy sources. PATIENT(S): A single patient, mentioned previously. INTERVENTION(S): Surgical vaginoplasty using the preserved cervix. The details are explained in the Design section. MAIN OUTCOME MEASURE(S): Restoration of the normal vaginal anatomy and function. RESULT(S): In the postoperative period, the patient did not have any postoperative complications. The urinary catheter was removed on the first postoperative day. From day 1, the patient was taught to make daily vaginal dilations with a vaginal dilator to maintain normal vaginal depth and width. The patient was discharged on day 3 after surgery. In a 3-month follow-up visit, the patient's vagina appeared normal in size with transverse folds and was very well lubricated because of the natural secretions of the cervical mucosa. The patient had been sexually active by the time of the follow-up visit. CONCLUSION(S): According to a literature search, this was the first published case of a successful neovagina creation through cervicovulvar anastomosis. Although different surgical approaches were widely discussed in previous publications of Fertility and Sterility, such as "Laparoscopic uterovaginal anastomosis in Mayer-Rokitansky-Küster-Hauser syndrome with functioning horn", "Laparoscopy-assisted Ruge procedure for the creation of a neovagina in a patient with Mayer-Rokitansky-Küster-Hauser syndrome", and "Evaluation of amnion in creation of neovagina in women with Mayer-Rokitansky-Küster-Hauser syndrome", which were all variants of vaginoplasty with allograft, vaginal distention (Vecchietti procedure), or the use of native tissues (Davydov technique), our approach could be more feasible in the rare cases of preserved distended cervix because of less induced trauma when compared with that of cervical removal. This is because of the strong and lubricated nature of the cervical epithelium, which is already present and does not require time for epithelization.

Familial Beckwith-Wiedemann syndrome: Prenatal manifestation and a possible expansion of the phenotype.

We describe a case of Beckwith-Wiedemann syndrome (BWS) demonstrating pre- and post-natal intra-familial variability. Our first encounter with the family occurred in the 1990s following the birth of 3 affected offspring. The first two pregnancies presented with exomphalos and elevated second trimester maternal serum alpha-fetoprotein (msAFP, 3.43 and 4.01 MOM, respectively) as well as elevated maternal human chorionic gonadotrophin (mhCG, 4.33 and 8.8 MOM, respectively). The diagnosis of BWS was confirmed postnatally in both cases. The third ongoing pregnancy presented only with elevated mhCG (7.09 MOM) and no malformation. Nonetheless BWS was suspected. The diagnosis was confirmed postnatally with clinical manifestations including macroglossia and cleft palate. Two affected female siblings were also diagnosed with Mullerian agenesis in adulthood. Suspecting a common genetic etiology, sequencing of the CDKN1C gene revealed a maternally inherited, likely pathogenic variant (NM_000076.2: c.367_385del; p.(Ala123Serfs*143)) causative of BWS. Chromosomal microarray and whole exome sequencing did not reveal any other pathogenic variant that would explain the Mullerian agenesis. One of the affected females underwent successful preimplantation genetic testing (PGT) with a surrogate and gave birth to a healthy female. To the best of our knowledge, this is the first report of Mullerian agenesis as a possible rare expansion of the BWS phenotype. In addition, this case highlights the potential role of abnormal second trimester biochemical markers (msAFP, mHCG) as possible indicators of BWS, especially in familial cases.

Mayer-Rokitansky-Küster-Hauser Syndrome: MR Manifestations Of Typical And Atypical Cases.

BACKGROUND: The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a group of congenital malformations arising due to agenesis or arrest of the growth of paired Mullerian ducts leading to absence of uterus, fallopian tubes and upper part of vagina. MRI has an unmatched role in diagnosing MRKH syndrome. The aim of the present study is to elaborate MRI manifestations of typical and atypical MRKH syndrome and its common and rare associations. METHODS: It was a cross sectional analysis of 19 cases in the Radiology Department of a public sector tertiary health care hospital of Rawalpindi over a period of one year. All patients clinically diagnosed as MRKH syndrome were included in the study. MRI pelvis of the study patients was performed and evaluated by two experienced radiologists. RESULTS: The mean age of study patients was 22.2 years. Out of 19 study patients, 16 (84%) had type I while 3 (16%) had type II MRKH syndrome. None of the patients had normally cited uterus of normal morphology. Bilateral ovaries with follicular activity were identified in all patients. A well-defined leiomyoma was identified arising from the left uterine bud in one of these patients. All three patients with MRKH II syndrome had ectopic pelvic kidneys. One of the patients showed a neoplastic mass lesion arising from ectopic left kidney. CONCLUSION: MRI is an excellent imaging modality for accurate diagnosis and evaluation of other system anomalies in MRKH syndrome. Rudimentary uterine buds are commonly seen in these patients and may have functioning endometrium. Ovaries are of normal appearance but frequently ectopic.

Mayer-Rokitansky-Küster-Hauser syndrome with rare findings of inferior crossed-fused renal ectopia and Gartner's duct cyst: a video case report.

OBJECTIVE: To describe the treatments of a patient using the laparoscopic Davydov's method for Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and ureteral reimplantation for hydronephrosis and hydroureter. DESIGN: Surgical video article. A consent form from the patient was obtained as appropriate; the nature of the study did not necessitate ethics committee approval. There were no conflicts of interest. SETTING: University hospital. PATIENT(S): A 28-year-old woman who presented at our gynecology department with the symptoms of primary amenorrhea and difficult intercourse. She had repaired congenital rectovestibular fistula and imperforate anus at the age of 8. At physical examination, she had a phenotypically normal vulva with a vaginal small pouch (0.5 cm). Magnetic resonance imaging of the pelvis revealed normal ovaries, a primordial uterus, absence of vaginal canal, and a 4.0 × 4.2 × 4.0 cm cystic structure posterior to the bladder. Magnetic resonance urography showed right to left renal crossed-ectopia with inferior fusion, and hydronephrosis and hydroureter from the superior kidney with Grade Ⅳ vesicoureteral reflux. Karyotype was 46, XX. INTERVENTION(S): Saline solution 300 mL was injected into the rectovesical space with an infusion of diluted adrenaline (1:200,000). The goal of this injection was to aid in the identification of tissue planes and reduce blood loss. The space between urethra/bladder and rectum progressively was dissected. Blunt dissection was performed initially with digital separation of tissues. Then, an 8-cm-long neovaginal vault of about 3 cm in diameter was created. The mobilized peritoneum was pulled downward with eight Vicryl sutures and connected to the vaginal epithelium. By cystoscope, we found the left orifice but could not find the right orifice of the hydroureter. Then we ligated the hydroureter by 2-0 absorbable suture near the cyst and cut off the hydroureter, and then incised of all the layers at the top of the bladder to make a bladder flap. We placed the 5 Fr double J stent in the hydroureter and the bladder and anastomozed with the ureteral stump (3-0 Vicryl). Then we removed the cyst laparoscopically. We performed a purse-string stitch to create the apex of the neovagina by taking posterior serosa of the bladder, the pelvic peritoneum between the ovary and rectum, primordial uterus, and anterior rectal serosa. MAIN OUTCOME MEASURE(S): Measurement of the final canal length, sexual function (Female Sexual Function Index), and degree of hydronephrosis. RESULT(S): Three days later, we started to change the vaginal mold and the patient was advised to wear it day and night for the first postoperative month. The vaginal mold had to be worn each night until normal sexual intercourse was possible. Findings confirmed the cyst was Gartner's duct cyst. One year after the surgery, the final canal length was 9 cm and Female Sexual Function Index score was 28. The ultrasound showed that the degree of hydronephrosis of upper moiety was mild. CONCLUSION(S): The distal Wolffian ducts in the female are absorbed but may persist as vestigial remnants (Gartner's duct cysts). A few cases of the combined urogenital-Wolffian anomalies are reported; most of them are associated with the anomalies of müllerian duct fusion, such as Herlyn-Werner-Wunderlich syndrome (uterus didelphys, obstructed hemivagina, and mesonephric duct anomalies). The embryogenesis of the combined anomalies is not completely understood. With comprehensive preoperative assessments, laparoscopic surgery could be a safe and effective treatment to these cases.

Evaluation and Management of Unexpected Functional Rudimentary Uteri in Mayer-Rokitansky-Küster-Hauser Syndrome of Chinese Women.

OBJECTIVE: To elucidate the characteristics of symptomatic attack of rudimentary uteri in MRKH syndrome and highlight the rare and unexpected possibilities. METHODS: A cohort of 202 Chinese MRKH syndrome patients admitted to the Peking Union Medical College Hospital from Jan 2009 to Dec 2016 was analyzed retrospectively. Based on the symptoms of abdominal pain before vaginoplasty, the patients were categorized into the asymptomatic and symptomatic groups. RESULTS: Totally, 21 patients had their uteri removed due to obstructive bleeding, 19 of them had symptoms of abdominal pain before vaginoplasty, the mean duration of abdominal pain before artificial vaginoplasty was 5.0 years (range, 0.5-10 years), and the mean age at first onset of recurrent abdominal pain was 14.3 years old (range 11-18). Two special cases showed unusual long incubation periods up to 23 years. Ultrasound detected endometrioid echo in four asymptomatic patients. Among the symptomatic group, 7 patients had no imaging evidence for endometrial cavities despite clinical pain. Two of them developed severe symptoms over the next two or four years and eventually had their uteri removed. Two patients reported persistent abdominal pain with a visual analog scale (VAS) score of 4-5, still under observation. Three patients were lost to follow-up. CONCLUSION: More than 10% of the patients with MRKH syndrome had surgical indication to remove the rudimentary uteri. The discrepancy between clinical symptoms and imaging calls for the vigilance for prophylactic surgery or prolonged follow-up.

Report of the first live birth after uterus transplantation in People's Republic of China.

OBJECTIVE: To present the first live birth after uterine transplantation (UTx) in the People's Republic of China. DESIGN: Case study. SETTING: University hospital. PATIENT(S): A 22-year-old woman with Mayer-Rokitansky-Kuster-Hauser syndrome and previous surgery for vaginal reconstruction and UTx. INTERVENTION(S): Endometrial preparation, frozen embryo transfer, pregnancy follow-up, and cesarean section. MAIN OUTCOME MEASURE(S): Results of in vitro fertilization, frozen embryo transfer, ultrasound measurements during pregnancy, rejection diagnosis and treatment, delivery, live birth, and histology of uterus. RESULTS(S): Frozen embryo (cleavage stage) transfer started 1.5 years after UTx. The first embryo transfer (n = 2) resulted in a biochemical pregnancy. The second, third, and fourth embryo transfer (n = 2, 2, 3) did not result in pregnancy. The fifth embryo transfer (n = 3) resulted in pregnancy with two gestational sacs, but with spontaneous disappearance of one in early pregnancy. During early pregnancy three episodes of vaginal bleedings occurred (gestational weeks 6 + 2, 13 + 1, and 16 + 3), with a spontaneously resorbing subchorionic hematoma diagnosed at the last bleeding episode. Bleeding episodes were treated with corticosteroids and tacrolimus. During pregnancy, blood flow velocity waveforms and fetal growth parameters were normal. A subacute cesarean section was performed at gestational week 33 + 6 due to uterine contraction pattern suggesting imminent labor. A healthy boy (2,000 g) with Apgar scores of 10, 10, 10 was delivered. The uterus was kept for a possible second pregnancy. CONCLUSION(S): The first live birth after UTx in the People's Republic of China is reported and this occurred after a robotic-assisted laparoscopic uterus retrieval from the mother.

Typical and atypical pelvic MRI characteristics of Mayer-Rokitansky-Küster-Hauser syndrome: a comprehensive analysis of 201 patients.

OBJECTIVES: To comprehensively evaluate the pelvic magnetic resonance imaging (MRI) findings of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and summarize the typical and atypical characteristics. METHODS: A retrospective analysis of 201 consecutive MRKH patients was carried out. Pelvic MRI was reviewed by two experienced gynecological radiologists in consensus. Characteristics including the morphology, signal pattern and volumes of the uterine rudiments, location and volume of the ovaries, and the degree of vaginal dysgenesis were evaluated. Other noted abnormalities were also recorded. RESULTS: Morphologically, the majority (95%) of patients displayed bilateral uterine rudiments combined with a fibrous band. The minority of patients showed no (3.5%) or unilateral (1.5%) uterine rudiments. A total of 385 uterine rudiments were detected which showed four types of signal patterns: one-layer differentiation (325, 84.4%), two-layer differentiation (27, 7%), three-layer differentiation without subsequent alteration (23, 6.0%), and three-layer differentiation with hematometra and/or ipsilateral hematosalpinx (10, 2.6%). The median volumes of these four types of uterine rudiments were 2.6 ml (1.69-3.81 ml), 3.19 ml (2.67-4.51 ml), 6.05 ml (3.37-12.44 ml), and 31.97 ml (19.2-38.7 ml), respectively. The mean ovarian volume was 6.49 ± 3.91 ml. Abnormally located ovaries were detected in 63 (31.3%) patients. The distal vagina was discernable in 25.1% of patients. CONCLUSION: MRKH patients typically display bilateral uterine rudiments combined with a fibrous band and normally located ovaries. The uterine rudiments are generally small with only one-layer differentiation, a subset of which might be large and exhibited other atypical presentations, including two- or three-layer differentiation or even hematometra. Abnormally located ovaries are not rare. KEY POINTS: • Morphologically, MRKH patients typically displayed bilateral uterine rudiments combined with a fibrous band. • Typically, the uterine rudiments (84.4%) were small and displayed only one-layer differentiation. • About 15.6% of rudiments showed atypical characteristics including two- or three-layer differentiation, even complicated with hematometra or hematosalpinx.

Four cases of Mayer-Rokitansky-Küster-Hauser syndrome treated via non-surgical vaginal reconstruction using uterine cervical dilators.

Vaginal creation is the standard treatment for Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Although non-surgical method is recommended as a first-line treatment in the American College of Obstetricians and Gynecologists guidelines for gynecological practice, it is not commonly performed in Japan. At our hospital, vaginal dilation using uterine cervical dilators (Hegar's dilator) is performed for patients with MRKH syndrome. We report four cases successfully treated with vaginal dilation. After the examination, patients were instructed to practice daily self-dilation at home. The initiation size was No. 13 with 10.5-mm diameter. After the vaginal cavity was dilated to a depth of 6 cm, the size of dilators was gradually increased until No. 30 with 25-mm diameter in a tip and 28-mm diameter in a trunk. The duration required to achieve the outcome was 5-22 months. All cases were successfully treated without any severe complication.

[Place of ultrasound in the management of Mayer-Rokitansky-Kuster-Hauser syndrome. Observational study from 2000 to 2017 within university hospital of Strasbourg]. / Place de l'échographie dans la prise en charge du syndrome de Mayer-Rokitansky-Kuster-Hauser. Étude observationnelle de 2000 à 2017 au sein des hôpitaux universitaires de Strasbourg.

OBJECTIVES: Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is the most common cause of congenital absence or severe hypoplasia of structures derived from Muller's canals including the upper vagina, uterus and fallopian tubes. The definition of this syndrome is the presence of normal female secondary sexual development criteria relating to the presence of functional ovaries associated with vaginal agenesis and uterine anomalies ranging from a rudimentary uterus to the total absence of uterus. The main clinical sign of MRKH is primary amenorrhea. Confirmation of diagnosis and identification of associated abnormalities are based primarily on imaging and Magnetic Resonance Imaging (MRI) is currently the gold standard in the comprehensive evaluation of MRKH syndrome. Therefore, this study evaluated the place of ultrasound in the diagnostic and therapeutic management of patients treated for MRKH syndrome. METHODS: This retrospective, single-center, observational study collected all patients in charge of diagnosis or treatment of MRKH Syndrome between January 2000 and June 2017 within the University Hospital Gynecology and Obstetrics Department of Strasbourg. The analysis of the medical files allowed the evaluation of ultrasound in the different stages of the patient's care. RESULTS: Twenty-one patients were included and 81% get an ultrasound, 38% of them had a referred ultrasound performed by a certified radiologist. Forty-eight percent of the patients had an MRI and every ultrasound provided a correct diagnosis. Sixteen patients received therapeutic management and only 50% of patients had preoperative MRI. CONCLUSION: The role of medical imaging is to define the extent of uterovaginal abnormalities for accurate diagnosis, describe any coexisting abnormalities, and provide a roadmap for surgical planning. The first-line examination is transabdominal ultrasound, a simple, non-invasive procedure. The use of MRI in our series did not bring any diagnostic surplus value. Despite the faster and easier access to MRI; ultrasound remains an indispensable tool in the diagnostic and therapeutic management of MRKH patients.

Zinner and Mayer-Rokitansky-Küster-Hauser syndromes: when unilateral renal agenesis meets genital anomalies.

Congenital unilateral renal agenesis is a relatively frequent condition at birth diagnosed mostly incidentally. Despite the excellent prognosis, unilateral renal agenesis is associated with an increased risk of other structural abnormalities, including genital malformations. The authors present two cases of asymptomatic adolescents with known congenital unilateral renal agenesis and associated genital malformations solely diagnosed during puberty-a man with Zinner syndrome and a female with Mayer-Rokitansky-Küster-Hauser syndrome.

Tilapia fish skin as a new biologic graft for neovaginoplasty in Mayer-Rokitansky-Kuster-Hauser syndrome: a video case report.

OBJECTIVE: To describe a McIndoe procedure technique for surgical management of Mayer-Rokitansky-Kuster-Hauser syndrome with the use of Nile tilapia skin as a scaffold for the proliferation of new vaginal epithelium. DESIGN: Surgical video article. Local Institutional Review Board approval and written permission from the patient were obtained. There were no conflicts of interest. SETTING: University hospital. PATIENT(S): A 17-year-old woman who presented at our gynecology department with the complaint of primary amenorrhea. At physical examination, she had a phenotypically normal vulva with no vaginal canal. Magnetic resonance imaging of the abdomen and pelvis revealed normal ovaries and absence of uterus and vaginal canal. No other congenital malformations were found. Karyotype was 46,XX. INTERVENTION(S): The McIndoe procedure involved only a vaginal approach. Labia minora were separated, and a transverse midline incision of 3 cm was made. The vesicorectal space was progressively dissected. Blunt dissection was performed initially with digital separation of tissues. The neovagina was then inspected with the introduction of a vaginal speculum, allowing for review of hemostasis. Blunt dissection was continued with the aid of the speculum, to reach the appropriate vaginal dimensions. Subsequently, a vaginal acrylic mold covered with two pieces of processed and sterilized tilapia fish skin was inserted and accommodated into the newly created cavity. The external side of the tilapia skin, which maintained its grayish coloration after the removal of the scales, stayed in contact with the acrylic mold, while the white internal side of the tilapia skin, which was previously attached to the fish's muscle, stayed in contact with the walls of the neocavity. The mold was held in position by four multifilament polyglactin 1.0 sutures in the labia majora, thus preventing expulsion. MAIN OUTCOME MEASURE(S): Anatomic data, such as measurement of the final canal length, and histomorphologic analysis, 180 days after surgery. RESULT(S): The patient remained on bed rest for 9 days, after which the tilapia fish skin had been partially reabsorbed. After this time, the acrylic mold was removed. A larger plastic mold was then inserted and the patient was advised to wear it day and night for the first postoperative month. The vaginal mold had to be worn each night until normal sexual intercourse was possible. The final canal length 180 days after surgery was between 8 and 9 cm. For the histopathologic analysis, fragments of the lateral vaginal wall were removed 180 days after surgery and showed the presence of stratified squamous epithelium with five cell layers, ectasic blood vessels, and occasional desquamated epithelial cells. CONCLUSION(S): The procedure described offered this patient an anatomic and functional neovagina by means of a simple, safe, easy, effective, quick, and minimally invasive procedure. Limitations include the experimental nature of this study, based on a single case report with no long-term outcome results. The tilapia fish skin is a low-cost and widely available biomaterial.

Primary amenorrhoea secondary to two different syndromes: a case study.

Turner syndrome is a relatively common chromosomal abnormality presenting as primary amenorrhoea in gynaecological and endocrine clinics, caused by complete or partial X monosomy in some or all cells. Mayer-Rokitansky-Kuster-Hauser syndrome is another common cause of primary amenorrhoea characterised by Mullerian agenesis of varying degrees. We report a case of an 18-year-old girl, who presented with primary amenorrhoea, absence of secondary sexual characteristics and short stature. Hormonal profile confirms hypergonadotrophic hypogonadism. Karyotyping was consistent with Turner syndrome (45,XO). In addition, radiological imaging of the pelvis showed the absence of both ovaries as well as the uterus, cervix and vagina. This patient had therefore presented with two different syndromes as the cause of her primary amenorrhoea, which is extremely rare in a single patient. Moreover, oestrogen replacement therapy will trigger the development of secondary sexual characteristic and promote bone growth, but induction of menstruation and fertility is impossible.

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

OBJECTIVES: 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. METHODS: 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. RESULTS: 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). CONCLUSION: 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. ADVANCES IN KNOWLEDGE: MRI features of salient preoperative anatomical structures are reproducible between observers.

Prenatal Diagnosis of Hydro(metro)colpos: A Series of 20 Cases.

BACKGROUND: Hydrocolpos and hydrometrocolpos are rare malformations caused by accumulation of secretion due to congenital obstruction of the vagina. Hydro(metro)colpos may be isolated or can be combined with other malformations as part of a syndromic disorder. We report on a series of 20 cases with hydro(metro)colpos diagnosed prenatally, delineate the differential diagnoses, and illustrate the spectrum of associated malformations. SUBJECTS AND METHODS: This was a retrospective study involving 20 fetuses with hydro(metro)colpos at two large tertiary referral centers in Germany over an 18-year period (2000-2017). RESULTS: The median diagnosis was made at 30+4 weeks of gestation, the earliest at 20+6 weeks, the latest at 37+2 weeks. All 20 fetuses presented with the typical cystic structure behind the fetal bladder. Additional malformations included urogenital malformations, hexadactyly, and heart defects. Postnatal follow-up revealed that hydro(metro)colpos was associated with anorectal malformation in 11/20 fetuses, McKusick-Kaufman syndrome or Bardet-Biedl syndrome in 4/20 fe tuses, Mayer-Rokitansky-Küster-Hauser syndrome in 3/20 fetuses, and Herlyn-Werner-Wunderlich syndrome in 1/20. In 1 fetus pressure from an intraabdominal teratoma resulted in prenatal hydro(metro)colpos. CONCLUSION: Hydro(me tro)colpos is a rare prenatal sonographic feature. Multidisciplinary prenatal counseling should include all potential syndromes that can present with hydro(metro)colpos in the prenatal setting.

Treatment of vaginal agenesis in Mayer-Rokitansky-Küster-Hauser syndrome in Denmark: a nationwide comparative study of anatomical outcome and complications.

OBJECTIVE: To compare the long-term anatomical outcome and complications in treatments of vaginal agenesis in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. DESIGN: A historical comparative follow-up study using medical chart reviews. SETTING: Public hospitals. PATIENT(S): A nationwide cohort of patients diagnosed with MRKH syndrome (n = 168). INTERVENTION(S): McIndoe vaginoplasty (n = 54), self-dilation (n = 60), coital dilation (n = 20), Baldwin vaginoplasty (n = 4), Williams vaginoplasty (n = 3), Davydov vaginoplasty (n = 2), or no treatment (n = 29). MAIN OUTCOME MEASURES(S): Mean vaginal depth at follow-up, anatomical treatment success rates at levels of ≥6 cm, ≥7 cm, and ≥8 cm, complications, and resurgery. RESULT(S): Mean vaginal depths were 7.4 cm (95% confidence interval [CI] 6.8-8.1 cm), 7.3 cm (95% CI 6.7-7.9 cm), and 8.7 cm (95% CI 7.9-9.5 cm) at follow-up in patients treated by McIndoe vaginoplasty, self-dilation, and coital dilation, respectively. Overall complication rates in the three groups were 35/54 (65%), 21/52 (35%), and 1/20 (5%), respectively. Eighteen (33%) of the patients who underwent McIndoe vaginoplasty needed resurgery. CONCLUSION(S): Our findings support the current recommendations of dilation therapy as the first-line treatment of vaginal agenesis and emphasize the relevance of coital dilation in patients able to regularly engage in coital activity. However, further studies of functional outcome and patient satisfaction are needed.

Ultrasound-guided follicle aspiration at time of laparotomy in a patient with Mayer-Rokitansky-Küster-Hauser syndrome.

OBJECTIVE: To demonstrate a unique case of direct ultrasound-guided follicle aspiration at time of a laparotomy in a patient with Mayer-Rokitansky-Küster-Hauser Syndrome. DESIGN: Video presentation. SETTING: Academic fertility center PATIENT(S): A 32-year-old gravida 0 with Mayer-Rokitansky-Küster-Hauser Syndrome and bilateral ovarian masses presented as a fertility preservation consult from gynecologic oncology due to the possibility of bilateral oophorectomy. Due to the appearance and size of the left ovary oncology planned to perform an exploratory laparotomy and left oophorectomy, with possible right oophorectomy. The patient and her partner desired embryo cryopreservation with plans for future use in a gestational carrier. She had previously undergone vaginal dilator therapy, however her ovaries were inaccessible transvaginally due to their cephalad location and small caliber of the vaginal pouch. The plan was made to proceed with controlled ovarian stimulation and concurrent ultrasound-guided follicle aspiration of the right ovary at the time of laparotomy following left oophorectomy. INTERVENTION(S): Ultrasound-guided follicle aspiration in vivo at time of laparotomy. MAIN OUTCOME MEASURE(S): Successful controlled ovarian stimulation, oocyte retrieval and embryo cryopreservation. RESULT(S): The patient underwent a long agonist protocol and received a total of 2,525 units of gonadotropin with a peak estradiol of 3,264 pg/ml. She required a total of 9 days of stimulation. The normal right ovary responded as expected, and the left ovary remained unchanged. Following laparotomy and left oophorectomy, direct application of the transvaginal ultrasound probe was used to aspirate all visible follicles on the right side in vivo. Twenty-four oocytes were retrieved, 15 were mature and 5 blastocysts were cryopreserved. Final pathology of left ovary returned as serous cystadenoma. The right ovary was examined by gynecologic oncology prior to and following retrieval and was thought to be normal and remained in situ. CONCLUSION(S): Although the approach described here is not feasible in most cases, this video demonstrates a unique and successful fertility preservation technique by direct ultrasound-guided follicle aspiration in vivo at the time of laparotomy in a Mayer-Rokitansky-Küster-Hauser Syndrome patient and to our knowledge, is the first description of its kind. This retrieval would have otherwise been limited by lack of access transvaginally and limited visualization transabdominally. This combined approach should be considered in future patients with müllerian anomalies and similar complicating factors necessitating laparotomy.