Oocyte Retrieval during Laparoscopic Vaginoplasty to Reduce Invasiveness in the Treatment of Mayer-Rokitansky-Küster-Hauser Syndrome

Study ObjectiveTo evaluate the treatment of patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with a combination of oocyte retrieval and surgical vaginoplasty in a single laparoscopic procedure.DesignA case series.SettingThe study was conducted at 2 tertiary referral facilities for MRKH syndrome in Milan, Italy, between July 2017 and September 2018.PatientsEleven patients presented with MRKH and required surgical vaginoplasty while expressing a desire for future fertility.InterventionsTwo experienced surgeons and an expert in assisted reproductive technology performed concomitant vaginoplasty according to the modified technique of Davydov and laparoscopic oocyte retrieval for gamete cryopreservation.Measurements and Main ResultsBefore the procedure, patients underwent extensive counseling and gave written consent. At the start of surgery, 10.4 ± 4.4 (mean ± standard deviation [SD]) oocytes were retrieved laparoscopically, and 8.8 ± 3.1 (SD) mean mature oocytes were cryopreserved. After oocyte retrieval, the steps of the modified Davydov technique were followed. The total operative time was 116 ± 16 minutes (mean ± SD), and no intraoperative/postoperative complications were observed.ConclusionThis is the first report of combined oocyte retrieval and vaginoplasty for patients with MRKH syndrome. The approach was found to be feasible in patients with a desire for future fertility. It is our belief that physicians treating patients with MRKH should refer patients to centers with expertise in both vaginoplasty and assisted reproductive technology.     

Surgical Pearls: Laparoscopic Removal of Uterine Remnants in Patients with Mayer-Rokitansky-Küster-Hauser Syndrome

BackgroundFemales with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome may require surgical removal of uterine remnant(s) which can be accomplished with a laparoscopic approach, described in this case series.CasesNine females with MRKH and pelvic pain were treated with laparoscopic resection of uterine remnants without major complication. The following management recommendations are offered: (1) preoperative evaluation for urinary tract anomalies and postoperative cystoscopy; (2) medial traction of the remnant to allow adequate exposure of the pelvic sidewall; (3) awareness of possible anomalous vascular supply to uterine remnant; (4) individualized management of associated endometriosis; (5) careful use of surgical terminology, avoiding use of the word hysterectomy.Summary and ConclusionLaparoscopic removal of uterine remnant(s) is safe and effective.     

Anatomic and Functional Outcomes of Paramesonephric Remnant-Supported Laparoscopic Double-Layer Peritoneal Pull-Down Vaginoplasty Technique in Patients with Mayer-Rokitansky-Küster-Hauser Syndrome: Uncu Modification

Objective

To describe modifications to the double-layer peritoneal pull-down laparoscopic vaginoplasty technique (Davydov operation) and evaluate anatomic and functional outcomes of the new technique, known as the Uncu modification.

Implications of Ehlers-Danlos Syndrome in a Patient With Mayer-Rokitansky-Küster-Hauser Syndrome

BackgroundEhlers-Danlos syndromes (EDS) are a heterogenous group of connective tissue disorders characterized by defective collagen production. Patients with EDS have lax and fragile connective tissue in their joints, skin, blood vessels, and hollow organs. This can lead to, among other complications, joint hypermobility, aneurysms, organ prolapse, and musculoskeletal chronic pain. Given that patients with vaginal agenesis, which occurs with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, often require vaginal dilation as part of their treatment, tissue elasticity and fragility are important considerations. This case report aims to describe the intersection of MRKH and EDS and its impact on vaginal dilation.CaseA 16-year-old girl with joint hypermobility and type III EDS presented with primary amenorrhea and a karyotype of 46 XX. Magnetic resonance imaging confirmed an absent uterus, cervix, and upper vagina. Physical examination showed Tanner V breasts and Tanner IV pubic hair, and an external genital examination revealed a blind-ending, 1-cm vaginal dimple. The patient was diagnosed with MRKH. Following her diagnosis, she received vaginal dilation instruction and returned for follow-up 2 months later, having quickly progressed to the largest vaginal dilator without symptoms of bleeding, pain, or dysuria. In that timeframe, her vaginal dimple had increased from 1 cm to 7-8 cm in depth, a rate much faster than is typically seen. Because of this rapid progress, a urogenital examination was performed. There was no evidence of urethral abnormality, perforation, or vaginal prolapse.Summary and ConclusionRecognition of EDS in patients with Müllerian anomalies has important implications for safe and effective vaginal dilation. All patients using vaginal dilation to lengthen the vagina require education on the technique. This need is heightened in patients with EDS in order to prevent accidental dilation of the urethra due to their tissue elasticity, to avoid tissue prolapse, and to prevent the theoretical risk of vaginal perforation.     

The Peritoneal Neovagina after Davydov's Laparoscopic Procedure in Mayer-Rokitansky-Küster-Hauser Syndrome: Morphology and Ultrastructure Investigation of the New Epithelium

Study ObjectiveTo investigate the clinical appearance and morphologic and ultrastructural aspects of the mucosa of the peritoneal neovagina after laparoscopic Davydov neovaginoplasty in patients with Mayer-Rokitansky-Küster-Hauser syndrome.DesignThe study group was a prospective, observational, experimental cohort of cases treated in the same institution between 2015 and 2019. Patients were followed up at 3, 6, and 12 months after surgery and then every 12 months.SettingSingle-center academic institution and teaching hospital in Milan, Italy.PatientsFifty-one consecutive subjects with clinical and imaging diagnosis of Mayer-Rokitansky-Küster-Hauser syndrome surgically treated by the same team and postoperatively followed.InterventionsAll the subjects underwent the same standardized surgical procedure and thereafter were followed up at 3, 6, and 12 months after surgery and then every 12 months; a minimum follow-up of 12 months was achieved in all cases. Vaginoscopy and Schiller test were performed at each follow-up visit, and a biopsy specimen of the neovagina was obtained in a limited number of patients (6 out of 51) for light microscopy (LM) and scanning electron microscopy (SEM) analysis of the tissue.Measurements and Main ResultsIn vaginoscopy, the neovaginal mucosa appeared homogeneous, smooth, and pink all along the neovaginal tract; the Schiller test detected iodine positivity at different degrees of extension upward from the hymenal ring, starting at 3 months postoperatively with almost complete positivity between 6 to 12 months in all cases. LM demonstrated adequate thickness and differentiation of the new mucosa along with the presence of glycogen storage; SEM revealed an ultrastructural surface appearance very close to normality. The main difference compared with a normal vagina was the reduced presence of vaginal mucosal folds.ConclusionUnder different techniques (vaginoscopy, Schiller test, LM, and SEM), a minimum of 6 months after surgery, the peritoneal neovagina epithelium showed aspects comparable to the natal mucosa of the vagina.     

Uterine Remnants and Pelvic Pain in Females with Mayer-Rokitansky-Küster-Hauser Syndrome

ObjectiveTo assess the association between pelvic pain and uterine remnants and review the management of pelvic pain in females with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.DesignRetrospective cohort.SettingDepartment of Obstetrics and Gynecology at a tertiary referring medical center.PatientsForty-eight females with MRKH presenting from 1997 to 2011 with anatomy confirmed by magnetic resonance imaging (MRI).InterventionsNone.Main Outcome MeasurePrevalence Of uterine remnants and the association of uterine remnants with pelvic pain in females with MRKH.ResultsOf the 48 females with MRKH, 23 (48%) had uterine remnants and 22 (46%) had pelvic pain. Presence of endometrium was associated with pelvic pain (RR = 2.3; 95% CI = 1.2-4.7) in females with MRKH. Of the females with MKRH and pain, 9/22 had laparoscopy, with endometriosis seen in 5/9 of the uterine remnants at stages higher than are usually seen in teenagers (56%). Nine patients with pain and uterine remnants (8 with endometrium, 1 without) had laparoscopic removal of uterine remnants with resolution of pain.ConclusionsGiven the high prevalence of uterine remnants in females with MRKH, anatomic evaluation with MRI should be considered when assessing the etiology of pelvic pain. Presence of endometrium within uterine remnants, and subsequent endometriosis, in females with MRKH may be associated with pelvic pain necessitating surgical or medical management.     

Development of leiomyomas on the uterine remnants of two women with Mayer-Rokitansky-Küster-Hauser syndrome

OBJECTIVE: To describe two cases of leiomyoma development in patients with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome). DESIGN: Case report. SETTING: Second Department of Obstetrics and Gynecology, University of Athens, Aretaieion Hospital, Athens, Greece. PATIENT(S): A 42-year-old woman with MRKH syndrome presented with lower abdominal pain, and a 38-year-old woman with MRKH syndrome presented with an asymptomatic left adnexal mass. INTERVENTIONS(S): Clinical examination, transabdominal ultrasonography, IV urography, laparoscopy. MAIN OUTCOME MEASURE(S): Ultrasound. RESULT(S): In both cases, laparoscopy revealed a leiomyoma originating from the left uterine remnant. The leiomyomas and the adjacent uterine remnants were laparoscopically excised. CONCLUSION(S): In rare cases, leiomyomas can originate from the fibromuscular tissue of uterine remnants in patients with MRKH syndrome.     

The effect of a group programme on women with the Mayer-Rokitansky-Küster-Hauser syndrome

Objective To evaluate the effect of a group programme on psychological distress in women with the Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.
Setting Gynaecologic outpatient clinic.
Sample Seventeen women with MRKH syndrome participated in this study.
Method A semi-structured programme of seven sessions was offered dealing with themes of the MRKH syndrome. Psychological distress was measured at the first visit 3–6 month before the group programme was started (pre-test-0), at the first (pre-test) and then at the last group session (post-test).
Main outcome measure The Symptom Check List-90 was used to assess feelings of psychological distress.
Results The post-test subscale scores for anxiety, depression, interpersonal sensitivity and the total score for psychological distress were significantly lower than the pre-test-0 and pre-test scores (   P < 0.05  ). No significant differences were found between the pre-test-0 and pre-test subscale scores and total score.
Conclusion A semi-structured group programme seems valuable in helping women with the MRKH syndrome to deal with their psychological stress.     

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

BackgroundMayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital disorder characterized by underdevelopment of the uterus and vagina.CaseA 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 ConclusionMRKH 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.     

Molecular analysis of the β-catenin gene in patients with the Mayer-Rokitansky-Küster-Hauser syndrome

Purpose

To study the β-catenin gene in a group of Mayer-Rokitansky-Küster-Hauser patients.

Methods

Twelve patients with the Mayer-Rokitansky-Küster-Hauser syndrome were included in this study. DNA was extracted from peripheral blood and the region codifying β-catenin GSK-3β phosphorylation sites on exon 3 was amplified. PCR products were purified and directly sequenced.

Results

No mutations were found in the GSK-3β phosphorylation sites on exon 3 of β-catenin gene in this group of patients with the MRKH syndrome.

Conclusions

β-catenin gene mutations are an unlikely cause of the MRKH syndrome.     

Coexistence of Mayer-Rokitansky-Küster-Hauser Syndrome and Turner Syndrome: A Case Report

BackgroundTurner syndrome is a common chromosomal disorder, with an incidence of 1 in 2000 live-born female infants. Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) affects 1 in 4500 female births and, rarely, it might be associated with gonadal dysgenesis.CaseA 17-year-old girl was referred to our clinic with short stature and primary amenorrhea. The patient was diagnosed with Turner syndrome and underwent estrogen therapy. At the age of 24 years, just after the patient's sexual initiation, the first complete gynecological examination was performed. A blind-ending vagina was revealed and the patient was diagnosed with MRKH.Summary and ConclusionEarly diagnosis of coexistence of MRKH and Turner syndrome, although very difficult, might prevent patients from developing serious complications.     

Molecular analysis of the WNT4 gene in 6 patients with Mayer-Rokitansky-Küster-Hauser syndrome

Molecular analysis of the WNT4 gene in 6 patients with Mayer-Rokitansky-Küster-Hauser syndrome without androgen excess excluded this gene as a major cause of this syndrome, regardless of the subtype.     

A Case of Mayer-Rokitansky-Küster-Hauser Syndrome Diagnosed in Infancy after Evaluation of Palpable Gonads

BackgroundMayer-Rokitansky-Küster-Hauser (MRKH) syndrome is defined as incomplete development of Müllerian structures (uterus, fallopian tubes, proximal vagina) in an otherwise phenotypic female individual. MRKH syndrome typically presents in adolescence with primary amenorrhea, but has been diagnosed in younger patients who present with other associated abnormalities, most commonly renal and skeletal.CaseHere we describe a 46,XX female infant with prenatally diagnosed renal anomalies who was found to have bilateral inguinal ovarian hernias at 1 month of age. Imaging of the genitourinary system revealed absence of the uterus and proximal vagina, consistent with MRKH syndrome.Summary and ConclusionsThis case highlights the importance of a thorough physical examination and an interdisciplinary team evaluation of infants with genitourinary anomalies, particularly when there is concern for differences in sexual development.     

Large endometrioma in an adolescent girl with Mayer-Rokitansky-Küster-Hauser syndrome

A 14-year-old 46 XX female presented with primary amenorrhea. A normal vagina ending in a blind pouch was found at gynecological examination. Diagnostic laparoscopy revealed the absence of a uterus with rudimentary fallopian tubes, round ligaments and uterosacral ligaments. The left ovary contained a 7-cm chocolate cyst, which was shown to be an endometrioma by pathological examination. This rare occurrence of ovarian endometrioma coexisting with Mayer-Rokitansky-Küster-Hauser syndrome in an adolescent patient might be secondary to Müllerian-directed metaplasia in the ovaries.