Mayer Rokitansky Kuster Hauser Syndrome with Concomitant Turner Syndrome Presented with Primary Amenorrhea in an 18 Year Old Woman: A Case Report

@#<p>Primary amenorrhea is a symptom caused by different rare pathologic conditions. It is commonly seen during adolescence due to the absence of menses during this period. Presented here is a rare case of primary amenorrhea in an 18 year old girl with delayed pubertal growth and short stature which on series of investigations revealed hypergonadotropic hypogonadism, absence of the uterus and non-visualized bilateral ovaries on MRI. Karyotyping showed 45,X0. The coexistence of MRKH and gonadal dysgenesis was considered in this case and has been reported in only a few studies up to this date. Its association is uncommon, hence, a multidisciplinary approach is warranted for the management of her case. Further implications on menses and future fertility options are the main considerations, affecting the quality of life.</p>

Mullerian Duct Anomaly- A Spectrum of Varied Clinical Manifestations

Introduction: Multiple integrated steps are required fornormal development of the female genital tract. A wide varietyof malformations can occur when this system is disruptedeither in form of non- development or defective fusion orfailure of resorption. The purpose of this study was to reviewthe spectrum of symptoms with which mullerian anomaliespresent so that timely intervention could be done to savesexual and reproductive life.Material and methods: The study was done in the departmentof Obstetrics and Gynaecology of a tertiary care teachinghospital in Bihar. Only the admitted cases i.e,those whorequired surgical correction were taken into study.Results: Majority of patients presented with severeabdominal pain(71.4%) followed by menstrual problems(46.4%), and urinary symptoms (35.7%) including vvf. 25%patients reported subfertility, 14.2% abdominal lump and14.2% dyspareunia, 10.7%PID and 10.7% rectal pressuresymptoms.Majority had transverse vaginal septum (28.5%),followed byMRKHS and OHVIRA syndrome (14.2% each),Conclusion: The variety of ways with which mullerian ductanomalies present hints that clinical suspicion should be thereif early diagnosis is not to be missed.

Vaginal anatomical and functional outcomes of 49 patients with Mayer-Rokitansky-Küster-Hauser syndrome undergoing modified laparoscopic sigmoid vaginoplasty / 中国实用妇科与产科杂志

OBJECTIVE: To investigate the anatomy and sexual outcomes of patients with Mayer-Rokitansky-KüsterHauser(MRKH)syndrome undergoing modified laparoscopic sigmoid vaginoplasty.METHODS: From January 2010 to January 2017,49 MRKH syndrome patients underwent the modified laparoscopic sigmoid vaginoplasty in Guangdong Women and Children's Hospital.Analysis of the anatomy and the sexual outcomes of the neovagina was conducted.The sexual functional outcomes were assessed using the Female Sexual Function Index(FSFI)questionnaire.45 cases of similar-aged women with normal sexual life were selected as controls.RESULTS: Modified laparoscopic sigmoid vaginoplasty was successfully performed in all 49 patients.The mean operative time and intraoperative blood loss was(186±53.7)minutes and(63.8±10.6)mL respectively.The mean length and width of the neovagina at the 6-month followup examination was(12.9±1.56)cm and(3.32±0.33)cm respectively.FSFI score between the MRKH group and the control group:Desire[(4.40±0.59)vs.(4.04±0.71),P0.05],Lubrication[(4.90 ± 0.58)vs.(4.67 ± 0.79),P>0.05],Orgasm[(4.29 ± 0.70)vs.(4.20 ± 0.79),P>0.05],Satisfaction[(4.51 ± 0.82)vs.(4.45 ± 0.91),P>0.05],Comfort[(4.71 ± 0.81)vs.(4.78 ± 0.72),P>0.05],Total score[(27.08 ± 2.83)vs.(26.53 ± 2.98),P>0.05].CONCLUSION: Modified laparoscopic sigmoid vaginoplasty is an effective and safe technique for MRKH syndrome patients,which provides a nearly normal sexual function for patients with MRKH syndrome.

Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome With Behavioural Disturbance And Mental Retardation - A Case Report

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome affects 1 out of 4500 female in which there is underdeveloped or absence of female genitourinary system, vagina or uterus. It is transmitted as an autosomal dominant trait with an incomplete degree of penetrance and variable expressivity. The phenotypic expression of this syndrome involve anomaly of the reproductive system. The case “ MIss X” presented with episodes of disorganised behaviour (self injurious). Miss X was provisionally diagnosed as seizure disorder with mental retardation. Detailed evaluation marked the abesnce of reproductive system. This possiblility of dual association of a major physical/anatomical abnormality and psychological disorder in young adolescent girl, is being presented here after taking valid consent.

Mayer-Rokitansky-Kuster-Hauser Type I Syndrome - A Case Report.

Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome is not uncommon as this is a part of the Mullerian agenesis. This is usually diagnosed during adolescent period when signs and symptoms of the ongoing changes in female body type are delayed. We present 17 years old adolescent female who presented with primary amenorrhoea as the normal menstruation did not start at puberty. She was diagnosed as MRKH Type I Syndrome on the basis of radiological investigations.

Multiple Fibroids in a Case of MRKH Syndrome with Absent Uterus: Recommendations for Management.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital anomaly characterized by aplasia or hypoplasia of uterus and vagina in women with normal development of secondary sex characteristics. It affects one in 4,000-5,000 female births. Women with this syndrome present in their teens with primary amenorrhea. MRKH syndrome may be associated with renal, skeletal, cardiac and auditory anomalies. Although, very rare women with MRKH syndrome may develop leiomyomas from a rudimentary uterus. Initial investigation in women having MRKH syndrome with leiomyoma is ultrasonography (USG). However, magnetic resonance imaging (MRI) is more accurate for diagnosis. Complete removal of the masses with the uterine remnant is recommended.

MRKH syndrome: Psychological disturbances and suicide.

The Mayer- Rokitansky-Küster-Hauser (MRKH) syndrome has been known to be associated with psychological abnormalities. However, hardly any case has been reported of suicide by an individual suffering from such syndrome, as per the author‘s knowledge. A 19 year old female was brought to Safdarjung hospital mortuary for post mortem examination. After eliciting a detailed history from the relatives of the deceased, going through the previous investigation reports and after post mortem examination it was confirmed that the deceased was suffering from MRKH syndrome. The mental stress associated with the diseased state resulted in the female committing suicide by ingesting some unknown substance. Emotional support forms the basis of treatment in such cases. Surgical treatment is also employed in some cases so as to help them lead normal sexual life. This paper deals with the pathology and psychological profile of the patient suffering from this syndrome and the therapeutic options that may be considered to ameliorate the stress associated with the disease.

Descripción de técnica simplificada de neovagina: reporte de 4 casos: Cali (Colombia) / A description of a simplified neovagina technique: a report of 4 cases from Cali, Colombia

Introducción: la agenesia de vagina representa una malformación infrecuente cuyas principales causas son el síndrome de Rokitansky-Mayer-Kuster-Hauser y la insensibilidad a los andrógenos o síndrome de feminización testicular. Su tratamiento se enfoca a la restauración de la función sexual y la mayoría de técnicas quirúrgicas descritas se caracterizan por su complejidad y requerimiento de instrumentos especiales. El objetivo de este documento es la presentación de una técnica simplificada de neovagina. Metodología: reporte de 4 pacientes con agenesia de vagina a las que se les realizó una neovagina a través de una modificación de la técnica de McIndoe mediante la utilización de compresa adsorbente de bacterias, con seguimiento de 8 a 18 meses. Resultados: se intervinieron tres pacientes con síndrome Rokitansky-Mayer-Kuster-Hauser y la cuarta con síndrome de feminización testicular y cariotipo XY. En uno de los casos se evidenció ruptura de recto distal al inicio de la cirugía, complicación que se identificó y corrigió de manera primaria con adecuada evolución. El tiempo de hospitalización varió de 2 a 3 días. No hubo evidencia de complicaciones a mediano y largo plazo, y se documentó el inicio de relaciones sexuales alrededor de 40 días posteriores a la intervención. Conclusión: la técnica quirúrgica descrita surge como una opción que hace el procedimiento más sencillo para restaurar la función sexual de mujeres con esta afección.

Introduction: vaginal agenesis represents a rare malformation, mostly associated with Mayer-Rokitansky-Kuster-Hauser syndrome and androgen insensitivity syndrome or testicular feminisation syndrome. Treatment focuses on restoring sexual function and most surgical techniques are characterised by their complexity and require special instruments. This paper was aimed at presenting a simplified neovagina technique. Methodology: four cases of patients suffering vaginal agenesis are reported; they underwent a modification of the McIndoe technique by using absorbent antimicrobial barrier dressings which simplifies the procedure and reduces implementation costs. They were followed-up for 8-18 months and suitable results were obtained. Results: three patients suffering from MRKH syndrome were treated; the fourth one had testicular feminisation syndrome (XY karyotype). A rupture of the distal colon or rectum was seen at the start of surgery in one case; such complication was identified and corrected, presenting suitable evolution. Hospital stay varied from 2-3 days. No medium or long-term complications were presented. Sexual relationships were documented as having begun around 40 days later. Conclusion: the surgical technique described here represents an option for restoring sexual function in women suffering from this condition.

Six cases of laparoscopic assisted neovaginoplasty using pelvic peritoneal flap in MRKH syndrome / 대한산부인과학회지

Vaginal agenesis is rare gynecologic condition, and the most common etiology is Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome, characterized by the absence of uterus and vagina and presence of normal ovaries and tubes. In such patients, the evaluation for associated malformations as well as careful non-surgical and surgical approach are essential. The neovaginoplasty is an important issue for these patients in regard of functional and psychological standpoint. There are many options available for creation of neovagina. We report six cases of laparoscopic assisted neovaginoplasty using pelvic peritoneal flap.

Two Cases of Mullerian Agenesis Undergone Vaginal Reconstruction by McIndoe Technique / 대한산부인과학회잡지

Vaginal agenesis is uncommon gynecologic condition, and the most common etiology is Mullerian agenesis also called Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome. In such patients, the evaluation for associated malformations as well as careful non-surgical and surgical approach are essential. The neovaginoplasty is an important issue for these patients from a functional and a psychological standpoint. We describe two patients with Mullerian agenesis, who have undergone vaginal reconstruction by McIndoe technique.

Two Cases of Mullerian Agenesis Undergone Vaginal Reconstruction by McIndoe Technique / 대한산부인과학회잡지

Vaginal agenesis is uncommon gynecologic condition, and the most common etiology is Mullerian agenesis also called Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome. In such patients, the evaluation for associated malformations as well as careful non-surgical and surgical approach are essential. The neovaginoplasty is an important issue for these patients from a functional and a psychological standpoint. We describe two patients with Mullerian agenesis, who have undergone vaginal reconstruction by McIndoe technique.

A Case of Mayer-Rokitansky-Kuster-Hauser Syndrome Accompanying Endometriosis / 대한불임학회지

The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome refers to a condition which presents as normal female secondary sex characteristics, normal external genitalia, congenital absence of the internal vagina, usually a rudimentary uterus in the form of bilateral noncanaliculated muscular buds, and normal tubes and ovaries with normal cytogenetic and endocrine evaluation, frequent association of renal, skeletal and other congenital anomalies. However, rarely, whole uterus or a segment of uterus may be present, but lacking a conduit to the introitus. If a partial endometial cavity is present in a segment of uterus, cyclic abdominal pain may be a complaint and furthermore endometiosis can be developed. Recently, we experienced a case of MRKH syndrome with the segments of uterus accompanying endometriosis in young woman. We present this case with a brief review of literatures.