Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome.

The molecular basis of mullerian aplasia, also known as Mayer-Rokitansky-Kuster Hauser (MRKH) or congenital absence of the uterus and vagina, is largely unknown. We applied a multifaceted genetic approach to studying the pathogenesis of MRKH including exome sequencing of trios and duos, genome sequencing of families, qPCR, RT-PCR, and Sanger sequencing to detect intragenic deletions, insertions, splice variants, single nucleotide variants, and rearrangements in 132 persons with MRKH. We identified two heterozygous variants in ZNHIT3 localized to a commonly involved CNV region at chromosome 17q12 in two different families with MRKH. One is a frameshift, truncating variant that is predicted to interfere with steroid hormone binding of the LxxLL sequence of the C-terminal region. The second variant is a double missense/stopgain variant. Both variants impair protein expression in vitro. In addition, four more probands with MRKH harbored the stopgain variant without the nearby missense variant. In total, 6/132 (4.5%) of patients studied, including five with associated anomalies (type 2 MRKH), had ZNHIT3 variants that impair function in vitro. Our findings implicate ZNHIT3 as an important gene associated with MRKH within the 17q12 CNV region.

Clinical features and management of women with Mayer-Rokitansky-Küster-Hauser syndrome in a Thai population.

Objective: This study aimed to describe the clinical features, associated extragenital anomalies, and management of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome in a Thai population. Methods: This retrospective study analyzed the medical records of 96 patients with MRKH syndrome diagnosed and treated at a university hospital and tertiary referral center in southern Thailand between 2000 and 2022. Results: The study included 96 patients with MRKH syndrome. The most common symptom was primary amenorrhea (88.5%), followed by difficulty or inability to engage in sexual intercourse (9.4%) and pelvic mass (2.1%). Notably, 80.3% of the patients did not have extragenital malformations and were diagnosed with MRKH type I (typical form), whereas 19.7% were categorized as MRKH type II (atypical form). Skeletal malformations were the most frequent extragenital anomalies and were present in 19.5% of patients, with scoliosis being the most common skeletal condition. Other extragenital malformations included renal (8.5%) and neurological (1.0%) abnormalities. Clinical vaginal examination revealed complete atresia in 21.8% and vaginal hypoplasia (median vaginal length, 3 cm) in 78.2% of the patients. Half of the patients did not receive treatment because they had not engaged in sexual intercourse. In this cohort, 41.7% of the patients had no difficulty performing sexual intercourse. Hence, self-dilation therapy or concomitant dilation was recommended. Only eight patients (8.3%) underwent surgical reconstruction of the vagina. Conclusion: This study confirmed the complexity and heterogeneity of the phenotypic manifestations of MRKH, including the degree of vaginal atresia and types and rates of associated malformations.

Understanding the Diagnostic Odyssey of Women with Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome in Denmark: A Qualitative Interview Study.

STUDY OBJECTIVE: The diagnosis of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is often a lengthy process that typically occurs during late adolescence. To support optimized and patient-centered care, this study aimed to investigate how women with MRKH syndrome experience the diagnostic process. METHODS: From January 2021 to March 2021, we conducted in-depth interviews with 18 Danish women (≥25 years) diagnosed with MRKH syndrome. The interviews lasted a median of 92 minutes (range: 67-117). Data were analyzed using thematic analysis. RESULTS: As teenagers or young women at the time, all women had experienced the diagnostic process in the nonspecialized healthcare sector as deeply upsetting due to distressing gynecological examinations, use of inappropriate language, and considerable diagnostic delay. When reaching the specialized health care sector, questions could finally be answered, but this information and support did not significantly alter their feelings of being "deviant" or "flawed". The women continued their diagnostic odyssey beyond the health care system and found online communities that gave them valuable support in living with MRKH syndrome. CONCLUSION: Women experience the diagnostic odyssey of MRKH syndrome as upsetting and potentially traumatizing beyond the diagnosis. Healthcare professionals can influence young women's understanding and experience of MRKH syndrome by using inclusive language (eg, avoiding "deformity") and addressing all that is normal and functioning (eg, external genitalia and potential for sexual pleasure). In nonurgent conditions, young women should be given the choice to delay a genital examination.

A Rare Case of Lung Hypoplasia, Cardiac Anomalies and Ovarian Tumour in a Patient with Mayer-Rokitansky-Küster-Hauser Syndrome.

Hypoplasia of the lung is an uncommon congenital abnormality of the respiratory system in contrast to pulmonary agenesis. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the congenital absence of the upper two-thirds of the vagina and uterus with normal secondary sexual characteristics, ovary and normal karyotype. We report a 31-year-old female patient who presented in 2022 with cough with expectoration, left-side chest pain and breathlessness for 4 years to tertiary hospital, Puducherry, India. She was evaluated for amenorrhoea and diagnosed as MRKH syndrome and the patient underwent right-side oophorectomy for right ovarian torsion with a tumour. Computed tomography pulmonary angiogram and fiberoptic endoscopy were suggestive of left lung hypoplasia and the patient was advised symptomatic treatment for lung hypoplasia and planned for vaginoplasty for which she refused.

Evaluation of Sexual Function Outcomes in Patients with Rokitansky Syndrome: A Systematic Review and Meta-analysis.

OBJECTIVE: In patients with Rokitansky syndrome, vaginal agenesis can be treated using various surgical techniques, and various factors can affect each surgery outcome in the long term. This meta-analysis aimed to evaluate sexual function outcomes in patients with Rokitansky syndrome after various surgery techniques. DATA SOURCES: Searches were conducted in Google Scholar, PubMed, Cochrane database, ScienceDirect, Web of Science, and ClinicalTrials.gov. Systematic searches were conducted on studies published until November 2022 (CRD42022370735). METHODS OF STUDY SELECTION: During the first stage of database scanning and reference check, 1820 results were identified, and an evaluation of the total 10 studies was finally conducted. The inclusion criteria involved selecting randomized controlled trials that focused on assessing sexual function after surgical treatment in patients of all ages with Rokitansky syndrome. TABULATION, INTEGRATION, AND RESULTS: EndNote version 20 software was used to organize and identify duplicate articles through screening. The Joanna Briggs Institute's critical appraisal tool was used to evaluate each study's quality for bias potential. The results showed that the total scores of female sexual functions in patients with Rokitansky syndrome after vaginoplasty were significantly lower than in healthy women (standardized mean difference, -0.233; p <.05; range, -0.376 to -0.090). The 6-domain analysis of the Female Sexual Function Index questionnaire revealed that lubrication (p <.05) and satisfaction (p <.05) were significantly lower in patients undergoing vaginoplasty. CONCLUSION: All surgical techniques to create a neovagina for patients with Rokitansky syndrome have successfully affected the sexual function outcomes. Considering all other factors affecting sexual function outcomes in the long term, more quantitative and qualitative studies are needed to assess sexual satisfaction in patients treated with surgical techniques.

Estimulación ovárica en síndrome de Mayer-Rokitansky: reporte de caso y revisión de la literatura / Controlled ovarian stimulation in Mayer-Rokitansky syndrome: case report and literature review

Resumen El síndrome de Mayer-Rokitansky-Küster-Hauser (SMRKH) es una anomalía del tracto genital femenino caracterizada por ausencia congénita del útero y porción superior de la vagina. Ocurre en uno de cada 4,500 nacimientos y se diagnostica normalmente durante la adolescencia al presentarse amenorrea primaria. Su función ovárica está preservada, pero la información actual respecto al potencial reproductivo de estas pacientes es limitada. Se presenta el caso de una mujer con diagnóstico de SMRKH sometida a estimulación ovárica para transferencia de embriones a útero subrogado y se discute su potencial reproductivo: técnicas de reproducción asistida, intervenciones e impacto psicológico.

Abstract Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a congenital anomaly of the female genital tract characterized by congenital absence of the uterus and upper part of the vagina. It occurs in 4,500 female births and diagnosis is usually made during adolescence when primary amenorrhea presents. They have functioning ovaries but data regarding their reproductive potential is limited. We hereby report the case of a woman diagnosed with MRKH syndrome in whom assisted reproductive techniques were used to try to achieve pregnancy by gestational surrogacy and their reproductive potential is discussed: assisted reproductive techniques, procedures, and psychological impact.

Obstructed hemivagina with ipsilateral renal agenesis (OHVIRA) syndrome: Typical presentation of a rare syndrome.

Obstructed hemivagina with ipsilateral renal agenesis (OHVIRA) syndrome is a rare congenital malformation of the Mullerian duct. We report on a 34-year-old female who presented to the emergency department for cramping lower abdominal pain and pelvic pressure with vaginal spotting. Physical exam showed marked swelling in the right adnexa, and laboratory exams were within normal limits except for positive Coronavirus disease 2019 (COVID-19) status. Transvaginal ultrasound revealed 3 well circumscribed, round hypoechoic complex cystic lesions with arterial doppler detected within the peripheral walls. Magnetic resonance imaging of the abdomen and pelvis showed a right hemivagina, right hematosalpinx, right hematometra and right renal agenesis, compatible with OHVIRA syndrome. The patient was informed of elective surgical procedure but was unable to undergo surgery at this time secondary to COVID status. The patient was therefore recommended oral contraceptive therapy for suppression of menses and protection of endometrial lining.

Intestinal Obstruction Secondary to Malformation in a Child with Mayer-Rokitansky-Küster-Hauser Syndrome.

BACKGROUND: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital disorder characterized by underdevelopment of the uterus and vagina. CASE: A 4-year-old girl was declared dead on arrival to the hospital with a history of chronic constipation since birth. Postmortem examination showed Müllerian remnants attached to abnormal fibrous tissue. The fibrous tissue extended from the descending colon to the rectum and connected to a urinary bladder duplication cyst. The fibrous tissue formed into a constricted band around the rectum. The cause of death was Streptococcus pyogenes sepsis with intestinal obstruction secondary to the rectal fibrotic band and urinary bladder duplication cyst. SUMMARY AND CONCLUSION: MRKH syndrome is a rare congenital disorder, and the malformations rarely cause death. We describe the features of abnormal fibrous tissue and urinary bladder duplication cyst in a patient with MRKH syndrome.

Laparoscopy as a Facilitator in the Early Diagnosis of a Mullerian Aplasia During Ordinary Surgery.

Laparoscopy was introduced more than 100 years ago. However, in some fields its use still meets resistance. Technology such as laparoscopy may help to identify rare and complex disorders, even in very ordinary procedures, such as inguinal hernia repair. This report highlighted the importance of early diagnosis of a complex condition using commonly available technology. To the best of our knowledge, there has not been a similar reported case in such a young patient during laparoscopic inguinal hernia repair.

Clinical and Radiological Findings in Mayer-Rokitansky-Küster-Hauser Syndrome Type 2: Case report.

Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) or Müllerian agenesis represents uterovaginal aplasia or hypoplasia of unknown aetiology in young women with usual 46,XX karyotype and normal secondary sexual characteristics. We report a 15-year-old female patient who presented to a specialised diabetes endocrine and metabolism centre in Basrah, Iraq, in 2019 with primary amenorrhoea and normal pubertal secondary sexual characteristics, hormonal workup and clinical examination. Abdominopelvic magnetic resonance imaging (MRI) revealed cervical and uterine agenesis with the absence of the proximal thirds of the vagina. Both kidneys were fused in the right iliac fossa with oval lobulated appearance and crossed fused ectopia. The ovaries were normal and located bilaterally. The diagnosis of MRKHS type 2 was confirmed based on clinical, biochemical and radiological findings. The correct clinical and radiological diagnosis of MRKHS by MRI is crucial for long-term management.

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.

Primary Amenorrhea Due to Anatomical Abnormalities of the Reproductive Tract: Molecular Insight.

Congenital anomalies of the female reproductive tract that present with primary amenorrhea involve Müllerian aplasia, also known as Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), and cervical and vaginal anomalies that completely obstruct the reproductive tract. Karyotype abnormalities do not exclude the diagnosis of MRKHS. Familial cases of Müllerian anomalies and associated malformations of the urinary and skeletal systems strongly suggest a complex genetic etiology, but so far, the molecular mechanism in the vast majority of cases remains unknown. Primary amenorrhea may also be the first presentation of complete androgen insensitivity syndrome, steroid 5α-reductase type 2 deficiency, 17ß-hydroxysteroid dehydrogenase type 3 deficiency, and Leydig cells hypoplasia type 1; therefore, these disorders should be considered in the differential diagnosis of the congenital absence of the uterus and vagina. The molecular diagnosis in the majority of these cases can be established.

Prevalence of urinary, prolapse, and bowel symptoms in Mayer-Rokitansky-Küster-Hauser syndrome.

BACKGROUND: Müllerian agenesis, or Mayer-Rokitansky-Küster-Hauser syndrome, occurs in 1 in 4500 to 5000 individuals assigned female sex at birth. Pelvic floor symptoms among individuals with Mayer-Rokitansky-Küster-Hauser syndrome have not been well studied, and it is unknown how vaginal lengthening treatments affect these symptoms. OBJECTIVE: This study aimed to assess urinary, prolapse, and bowel symptoms in individuals with Mayer-Rokitansky-Küster-Hauser syndrome and to determine whether symptoms vary by vaginal lengthening treatment. STUDY DESIGN: We conducted a cross-sectional study in 2019 using an online survey distributed by the Beautiful You MRKH Foundation via social media to individuals with Mayer-Rokitansky-Küster-Hauser syndrome. Demographics, age at and timing of diagnosis, information about vaginal lengthening treatment, urinary symptoms (Michigan Incontinence Symptom Index), prolapse symptoms (Pelvic Organ Prolapse Distress Inventory short-form version), and bowel symptoms (Bristol Stool Form Scale) were obtained. The inclusion criteria included self-reported diagnosis of müllerian agenesis and female sex. Respondents with a history of renal transplant or dialysis, completion of <85% of the survey, and non-English survey responses were excluded. Descriptive analyses were used to describe the sample population. Logistic regression, Kruskal-Wallis, and Fisher exact tests were used to compare the prevalence of pelvic floor symptoms and vaginal lengthening treatments. Associations between age and genitourinary symptoms were investigated with Spearman correlations. RESULTS: Of 808 respondents, 615 met the inclusion criteria, representing 40 countries. 81% of respondents identified as white. The median age of the participants was 29 years (interquartile range, 24-36), with a median age at diagnosis of 16 years (interquartile range, 15-17). Among the 614 respondents, 331 (54%) had vaginal lengthening treatment, 130 of whom (39%) had undergone surgical vaginal lengthening. Of individuals with Mayer-Rokitansky-Küster-Hauser syndrome, 428 of 614 (70%) reported having had one or more urinary symptoms, and 339 of 428 (79%) reported being bothered by these symptoms. Urinary symptoms included urinary incontinence (210 of 614 [34%]), urinary frequency (245 of 614 [40%]), urinary urgency (248 of 614 [40%]), pain with urination (97 of 614 [16%]), and recurrent urinary tract infections (177 of 614 [29%]). Prolapse symptoms included lower abdominal pressure (248 of 612 [41%]), pelvic heaviness or dullness (177 of 610 [29%]), and vaginal bulge (68 of 609 [11%]). In addition, constipation was reported by 153 of 611 respondents (25%), and anal incontinence was reported by 153 of 608 (25%) respondents. Beside recent urinary incontinence (P=.003) and anal incontinence (P<.001), the prevalence of pelvic floor symptoms (P>.05) did not differ significantly between those with and without vaginal lengthening. Among those with surgical vaginal lengthening, symptomatic vaginal bulge was highest in individuals who underwent a bowel vaginoplasty procedure. CONCLUSION: Urinary, prolapse, and bowel symptoms are common among individuals with Mayer-Rokitansky-Küster-Hauser syndrome and should be evaluated in this population. Overall, compared with no vaginal lengthening treatment, having vaginal lengthening treatment is not associated with substantial differences in the prevalence of pelvic floor symptoms, with the exception of recent urinary incontinence and anal incontinence. Our data suggested that bowel vaginoplasty may be associated with greater symptoms of vaginal bulge. More robust studies are needed to determine the impact of various vaginal lengthening treatments on pelvic floor symptoms.

Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.

Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is associated with congenital absence of the uterus, cervix, and the upper part of the vagina; it is a sex-limited trait. Disrupted development of the Müllerian ducts (MD)/Wölffian ducts (WD) through multifactorial mechanisms has been proposed to underlie MRKHS. In this study, exome sequencing (ES) was performed on a Chinese discovery cohort (442 affected subjects and 941 female control subjects) and a replication MRKHS cohort (150 affected subjects of mixed ethnicity from North America, South America, and Europe). Phenotypic follow-up of the female reproductive system was performed on an additional cohort of PAX8-associated congenital hypothyroidism (CH) (n = 5, Chinese). By analyzing 19 candidate genes essential for MD/WD development, we identified 12 likely gene-disrupting (LGD) variants in 7 genes: PAX8 (n = 4), BMP4 (n = 2), BMP7 (n = 2), TBX6 (n = 1), HOXA10 (n = 1), EMX2 (n = 1), and WNT9B (n = 1), while LGD variants in these genes were not detected in control samples (p = 1.27E-06). Interestingly, a sex-limited penetrance with paternal inheritance was observed in multiple families. One additional PAX8 LGD variant from the replication cohort and two missense variants from both cohorts were revealed to cause loss-of-function of the protein. From the PAX8-associated CH cohort, we identified one individual presenting a syndromic condition characterized by CH and MRKHS (CH-MRKHS). Our study demonstrates the comprehensive utilization of knowledge from developmental biology toward elucidating genetic perturbations, i.e., rare pathogenic alleles involving the same loci, contributing to human birth defects.

Treatment of patients with Mayer-Rokitansky- Küster-Hauser syndrome in a tertiary hospital.

INTRODUCTION: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is an uncommon congenital malformation characterised by agenesis or hypoplasia of the vagina and uterus. Here, we describe the treatment of patients with MRKH syndrome in a tertiary hospital. METHODS: This retrospective study included patients with MRKH syndrome attending the Paediatric and Adolescent Gynaecology Clinic in a tertiary hospital. Their clinical manifestations, examinations, and methods for neovagina creation were recorded. Among patients who underwent vaginal dilation (VD), therapy duration, vaginal width and length at baseline and after VD, complications, and sexual activity and dyspareunia outcomes were evaluated. RESULTS: Forty nine patients with MRKH syndrome were identified. Their mean age at presentation was 17.9 years; 69.4% and 24.5% of patients presented for primary amenorrhoea treatment and vaginoplasty, respectively. Forty eight patients had normal renal imaging findings and 46 XX karyotypes. Seventeen (34.7%) patients underwent VD as first-line therapy; three did not complete the therapy. Two had surgical vaginoplasty, whereas five achieved adequate vaginal length by sexual intercourse alone; 25 had not yet requested VD. The mean duration of VD was 16±10.2 (range, 4-35) weeks. The widths and lengths of the vagina at baseline and after VD were 1.1±0.28 cm and 1.3±0.7 cm, and 3.1±0.5 cm and 6.9±0.9 cm, respectively. The overall success rate of VD was 92.3%. Vaginal spotting was the most common complication (21%); only one patient reported dyspareunia. CONCLUSIONS: Mayer-Rokitansky-Küster-Hauser syndrome is an uncommon condition that requires multidisciplinary specialist care. Vaginal dilation is an effective first-line approach for neovagina creation.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update.

BACKGROUND: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also referred to as Müllerian aplasia, is a congenital disorder characterized by aplasia of the uterus and upper part of the vagina in females with normal secondary sex characteristics and a normal female karyotype (46,XX). MAIN BODY: The diagnosis is often made during adolescence following investigations for primary amenorrhea and has an estimated prevalence of 1 in 5000 live female births. MRKH syndrome is classified as type I (isolated uterovaginal aplasia) or type II (associated with extragenital manifestations). Extragenital anomalies typically include renal, skeletal, ear, or cardiac malformations. The etiology of MRKH syndrome still remains elusive, however increasing reports of familial clustering point towards genetic causes and the use of various genomic techniques has allowed the identification of promising recurrent genetic abnormalities in some patients. The psychosexual impact of having MRKH syndrome should not be underestimated and the clinical care foremost involves thorough counselling and support in careful dialogue with the patient. Vaginal agenesis therapy is available for mature patients following therapeutical counselling and education with non-invasive vaginal dilations recommended as first-line therapy or by surgery. MRKH syndrome involves absolute uterine factor infertility and until recently, the only option for the patients to achieve biological motherhood was through gestational surrogacy, which is prohibited in most countries. However, the successful clinical trial of uterus transplantation (UTx) by a Swedish team followed by the first live-birth in September, 2014 in Gothenburg, proofed the first available fertility treatment in MRKH syndrome and UTx is now being performed in other countries around the world allowing women with MRKH syndrome to carry their own child and achieve biological motherhood. CONCLUSION: Several advances in research across multiple disciplines have been made in the recent years and this kaleidoscopic review provides a current status of various key aspects in MRKH syndrome and provides perspectives for future research and improved clinical care.

GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome.

Congenital uterine anomalies (CUA) may have major impacts on the health and social well-being of affected individuals. Their expressivity is variable, with the most severe end of the spectrum being the absence of any fully or unilaterally developed uterus (aplastic uterus), which is a major feature in Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH). So far, etiologies of CUA remain largely unknown. As reports of familial occurrences argue for strong genetic contributors in some cases, we performed whole exome sequencing in nine multiplex families with recurrence of uterine and kidney malformations, a condition called hereditary urogenital adysplasia. Heterozygous likely causative variants in the gene GREB1L were identified in four of these families, confirming GREB1L as an important gene for proper uterine and kidney development. The apparent mode of inheritance was autosomal dominant with incomplete penetrance. The four families included fetuses with uterovaginal aplasia and bilateral renal agenesis, highlighting the importance to investigate GREB1L in such phenotypes. Subsequent sequencing of the gene in a cohort of 68 individuals with MRKH syndrome or uterine malformation (mostly sporadic cases) identified six additional variants of unknown significance. We therefore conclude that heterozygous GREB1L variants contribute to MRKH syndrome and this probably requires additional genetic or environmental factors for full penetrance.

Conservative Management of Vaginal Hypoplasia

In patients with Mayer-Rokitansky-Küster-Hauser syndrome and complete androgen insensitivity syndrome (CAIS), management of vaginal hypoplasia includes non-surgical or surgical vaginal elongation techniques. For these patients, primary vaginal dilation is considered a first-line option to avoid the risks of having surgery and complications that may occur due to these procedures. Non-surgical dilation is a highly successful treatment if treatment is initiated when the patient is emotionally mature and ready. Here, we present a case of CAIS with vaginal hypoplasia managed successfully with non-surgical dilation therapy.

Incidental detection of Zinner syndrome in a patient with nonseminomatous germ cell tumor of testis.

Zinner syndrome is a rare congenital abnormality occurring in males comprising a triad of unilateral renal agenesis, ipsilateral ejaculatory duct obstruction, and seminal vesicle cyst. Most patients remain asymptomatic, and some may present with lower urinary tract symptoms or infertility. We present a case of incidentally detected Zinner syndrome in a patient with nonseminomatous germ cell tumor of testis, an association that is not reported in literature to our knowledge.

Laparoscopic metroplasty for unicornuate uterus with a functional noncommunicating rudimentary horn.

OBJECTIVE: To evaluate the feasibility of laparoscopic metroplasty for the treatment of unicornuate uterus with a functional noncommunicating rudimentary horn. METHODS: Laparoscopic metroplasty was performed in one patient using traditional laparoscopy and four patients using robot-assisted laparoscopy from December 2013 to December 2017 at the Obstetrics and Gynecology Hospital of Fudan University. The records of the five patients were analyzed retrospectively. RESULTS: In all five patients the unicornuate uterus and functional noncommunicating rudimentary horn were unified into a single cavity without intraoperative or postoperative complications. Average operative time was 281 minutes (range, 204-330 minutes) and average blood loss was 180 mL (range, 100-300 mL). Postoperative hospital stay was 7 days (range, 5-11 days) and there was no re-admission. All patients were relieved of pain and had regular menstruation after surgery. Average follow-up time was 44 months (range, 22-70 months). One patient conceived by in vitro fertilization and embryo transfer 2 years after the operation and delivered twins by cesarean at 33 weeks. CONCLUSION: Laparoscopic metroplasty, with or without robotic assistance, is an acceptable alternative to resection for a noncommunicating rudimentary horn with a functional endometrium.