Mayer-Rokitansky-Küster-Hauser Syndrome Research Articles

Long-term outcomes in non-CAH 46,XX DSD.

Differences/disorders of sex development (DSD) comprise a large group of rare congenital conditions. 46,XX DSD, excluding congenital adrenal hyperplasia (CAH), represent only a small number of these diseases. Due to the rarity of non-CAH 46,XX DSD, data on this sex chromosomal aberration were confined to case reports or case series with small numbers of patients. As the literature is still relatively sparse, medical data on the long-term effects of these pathologies remain scarce. In this review, we aim to provide an overview of current data on the long-term follow-up of patients with non-CAH 46,XX DSD, by covering the following topics: quality of life, gender identity, fertility and sexuality, global health, bone and cardiometabolic effects, cancer risk, and mortality. As non-CAH 46,XX DSD is a very rare condition, we have no accurate data on adult QoL assessment for these patients. Various factors may contribute to a legitimate questioning about their gender identity, which may differ from their sex assigned at birth. A significant proportion of gender dysphoria has been reported in various series of 46,XX DSD patients. However, it is difficult to give an accurate prevalence of gender dysphoria and gender reassignment in non-CAH 46,XX DSD because of the rarity of the data. Whatever the aetiology of non-CAH 46,XX DSD, fertility seems to be impaired. On the other hand, sexuality appears preserved in 46,XX men, whereas it is impaired in women with MRKH syndrome before treatment. Although there is still a paucity of data on general health, bone and cardiometabolic effects, and mortality, it would appear that the 46,XX DSD condition is less severely affected than other DSD conditions. Further structured and continued multi-center follow-up is needed to provide more information on the long-term outcome of this very rare non-CAH 46,XX DSD condition.

Self-esteem, depression, anxiety and sexual function in Mayer-Rokitansky-Küster-Hauser syndrome with neovagina: A case series

BackgroundThe Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare condition with significant psychological implications. However, our understanding of its impact on postoperative sexual function and mental health is still limited. AimEvaluate the mental health status and sexual functioning of women with MRKH syndrome after vaginoplasty surgery. MethodsWe enrolled 53 cases with MRKH syndrome who underwent artificial vaginoplasty. The participants were asked to participate in a two-round survey conducted between February 2021 during the covid-19 period and March 2023. The survey included questionnaires to measure depression, anxiety, self-esteem, and sexual functioning. Differences between scores over time were analysed using a paired sample t-test, and we assessed the correlation between mental health and sexual functioning. ResultsIn the first round, patients’ mean ± SD age at surgery was 23.6 ± 4.5 years old, and the mean ± SD time that had elapsed since surgery at the time of the survey was 34.2 ± 20.8 months. None of the patients reported low self-esteem, 45.3 % reported mild-to-moderate depression, and 34.0 % reported mild anxiety. Thirty patients have had vaginal intercourse during the last six months. The mean ± SD Female Sexual Functioning Index score was 24.6 ± 4.4, and 60.0 % had a score of 23.5 or higher, indicating high sexual functioning. The sexual functioning scores were positively correlated with self-esteem scores and negatively correlated with depression or anxiety scores (p < 0.05). There was no significant improvement in patient's mental health status and sexual function between the second round survey (71.3 ± 17.8 months after surgery) and the first round survey (p > 0.05). In contrast, the sexual arousal of FSFI were significantly higher in the second survey round (p < 0.05). ConclusionMost patients undergoing vaginoplasty reported persisting mental health challenges. However, the majority reported good sexual functioning.

Magnetic resonance imaging features of complete androgen insensitivity syndrome in comparison to Mayer-Rokitansky-Küster-Hauser syndrome.

Complete androgen insensitivity syndrome (CAIS) and Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) share common clinical features such as female phenotype, vaginal hypoplasia, and primary amenorrhea. Magnetic resonance imaging (MRI) is performed to investigate the cause of primary amenorrhea. However, the MRI features are also similar in both disorders. They are ultimately diagnosed by chromosome testing, but there is a possibility of misdiagnosis if chromosome testing is not performed. This study aimed to identify MRI features that are useful for differentiating CAIS from MRKHS. This multicenter retrospective study included 12 patients with CAIS and 19 patients with MRKHS. Three radiologists blindly evaluated the following features: (1) detection of vagina, (2) detection of nodular and cystic structures in the lateral pelvis; undescended testicles and paratesticular cysts in CAIS and rudimentary uteri and ovaries in MRKHS, (3) their location, (4) number of cysts in the cystic structures, and (5) signal intensity on diffusion-weighted images (DWI) and apparent diffusion coefficient (ADC) values of the nodular structures. Statistical comparisons were performed using Mann-Whitney U and Fisher's exact tests. Compared with MRKHS, the CAIS group showed significantly detectable vagina, more ventrally located nodular and cystic structures, fewer cysts within the cystic structures, and nodular structures with higher signal intensity on DWI and lower ADC values. MRI features of detectable vagina, location of nodular and cystic structures, number of cysts within the cystic structures, signal intensity on DWI and ADC values of the nodular structures were useful in differentiating CAIS from MRKHS.

75. Leiomyoma of a uterine remnant: Expand the differential for complex para-ovarian mass in patients with Mullerian agenesis

75. Leiomyoma of a uterine remnant: Expand the differential for complex para-ovarian mass in patients with Mullerian agenesis

Laparoscopic Creation of a Neovagina in Women with MRKH Syndrome -A New Look to an Old Problem

Laparoscopic Creation of a Neovagina in Women with MRKH Syndrome -A New Look to an Old Problem

A rare variant of mullerian agenesis: a case report and review of the literature

IntroductionMenstruation is a developmental milestone and usually marks healthy and normal pubertal changes in females. Menarche refers to the onset of first menstruation in a female. The causes of primary amenorrhea include outflow tract abnormalities, resistant endometrium, primary ovarian insufficiency, and disorders of the hypothalamus, pituitary, or other endocrine glands. A rare variant of mullerian agenesis, which warrants an individualized approach to management, is presented here.Case reportWe present here the case of a 25-year-old Indian female with pain in the lower abdomen and primary amenorrhea. After a thorough history, clinical examination, imaging, and diagnostic laparoscopy, two small uteri, a blind upper half vagina, bilateral polycystic ovaries, and a blind transverse connection between the two uteri—a horseshoe band cervix—were detected, which confirmed the diagnosis of mullerian agenesis. There was evidence of adenomyosis in the mullerian duct element. This is a rare form of Müllerian abnormality with an unusual presentation.ConclusionMullerian agenesis is the most common cause of primary amenorrhea with well-developed secondary sexual characteristics. There are various forms of mullerian agenesis. Most of the cases are managed by a multidisciplinary team. Rare variants warrant an individualized approach to management.

Rare Association of Cat Eye Syndrome and Mullerian Agenesis: Third Reported Case

Introduction: Cat-eye syndrome is a rare genetic disease with extremely diverse phenotypes. Its most common manifestations include ocular coloboma, anal atresia, preauricular skin tags and pits. Case report: We report the third case of Cat-eye syndrome associated to Mullerian agenesis in a 28 years-old female, to highlight the possibility of a link between partial trisomy or tetrasomy of chromosome 22 (specifically of the region 22q11) and Müllerian agenesis. Discussion and Conclusion: In patients with CES, the short arm (p) and a small part of the long arm (q) of chromosome 22 are present three or four (trisomy or tetrasomy) times rather than twice in every cell of the organism. Schinzel et al, described in 1981 the first case of Cat eye syndrome associated to Mullerian agenesis in their series of 11 patients with CES. The second case of Müllerian agenesis in a patient with CES was reported by AlSubaihin et al. This rare association is suggesting that there may be genes in or near the 22q11 CES critical region that are important for normal mullerian development. Keywords: Cat-eye syndrome – Mullerian agenesis – Malformations – Genetic analysis

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

This study aimed to describe the clinical features, associated extragenital anomalies, and management of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome in a Thai population. 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. 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. 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.

Vaginal Agenesis: Diagnosis on Ultrasound and Management of a Case at the Gabriel Toure University Hospital in Bamako (Mali)

Abstract: Vaginal malformations can be diagnosed by ultrasound in a large number of cases. The prevalence of uterovaginal aplasia usually reported in the literature is 1/4000 to 1/10,000. Objectives: We tell you about the difficulties of diagnosis with ultrasound, the difficulties of managing our case of vaginal aplasia. Observation: This was a 20-year-old patient saleswoman, single. History of the Disease: was marked by cyclic pelvic headache for 6 months with primary amenorrhea. She has no particular medical-surgical history. On Physical Examination: secondary sexual characteristics were developed. On inspection of the vulva, normal pubic hair was noted. Examination of the vulva showed the labia majora and labia minora present and normal-looking. A hymen could not be identified and there was no visible vaginal opening. Faced with this clinical and paraclinical symptomatology, we made the diagnosis of vaginal agenesis. The ultrasound showed a uterus measuring about 92x71x62 mm, its parenchyma is homogeneous, its contours are regular. The presence in the uterine cavity at the corporeofundic level of a homogeneous echogenic collection of about 66.5 cc (69x35 mm). Note the congenital malformation of the cervix with agenesis). The Surgical Procedure Performed: is vaginoplasty. Conclusion: Ultrasound of uterine malformation is difficult and requires some experience from the sonographer.

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

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. 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. 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. 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.

Histological Features of Neovaginal Epithelium after Vaginoplasty in Mayer-Rokitansky-Küster-Hauser Syndrome

To analyze the features of the epithelia coating neovaginas after vaginoplasty in women affected by Mayer-Rokitansky-Küster-Hauser syndrome STUDY DESIGN: We conducted a retrospective analysis of prospectively collected data. Women affected by Rokitansky syndrome who underwent neovaginal biopsy after vaginoplasty (McIndoe surgery, intestinal vaginoplasty, Vecchietti surgery, and Davydov surgery) were included. Macroscopic mucosal features were assessed through clinical examination and the Schilling test. Each biopsy specimen was prepared for examination by light microscopy and in some cases by scanning electron microscopy (SEM). Thirty-six patients (4 McIndoe, 2 intestinal vaginoplasty, 14 Vecchietti, and 16 Davydov) were included. All biopsies were performed without complications. In McIndoe's neovaginas, the mucosal microscopic features were similar to normal skin, with large areas of preserved epithelium, heterogeneous presence of dermal papillae, and superficial keratinization. The characteristics of the intestinal neovagina's surface were similar to those of a sigmoid colon, with well-shaped glands, cylindrical cells, and a secreting mucosa. In Vecchietti neovaginas, the surface the epithelium was flat and multilayered, highly similar to that of a normal vagina, with the presence of glycogen and superficial desquamation. On medium SEM magnification evaluation, the epithelium presented flattened polygonal cells. Finally, in Davydov neovaginas, none of the specimens had persistent mesothelial elements. The squamous neo-epithelium had regular aspects of differentiation with the presence of glycogen. At greater SEM magnification, microridges were evident, with a regular distribution. Each different technique of vaginoplasty leads to unique histological and structural features of the neovagina's mucosa. Knowledge of these elements must be the basis for the choice of the most appropriate intervention.

MURCS Syndrome: Atypical form of Mayer–Rokitansky–Kuster–Hauser Syndrome

MURCS Syndrome: Atypical form of Mayer–Rokitansky–Kuster–Hauser Syndrome

Let Us Treat the Patient Not the Case… A Young Girl with Mayer–Rokitansky–Küster–Hauser Syndrome

Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a rare cause of primary amenorrhea with an incidence of 1 in 5000. As per the American Society of Reproductive Medicine (ASRM) classification of Müllerian duct anomalies, uterine and vaginal agenesis correspond to class 1, the extreme form of which is the MRKH syndrome. Although considered rare, it is surprisingly the second-most common cause of primary amenorrhea after hypogonadism. The importance of the psychosocial dimension in the management of this condition cannot be overemphasized. Here, we describe a case of MRKH syndrome in a young girl from South India.

Congenital Adrenal Hyperplasia with Concomitant Mullerian Agenesis: A Rare Occurrence in 46 Xx Disorders of Sexual Development

The most common cause of 46 XX DSD is due to congenital adrenal hyperplasia with varying degrees of virilization. Females with CAH do not produce an anti-mullerian hormone (AMH), therefore the internal genitalia, which are Mullerian derivatives, develop normally. We report a unique case of CAH with aplasia of the uterus and upper vagina. The clinical, laboratory, and imaging findings of the patient are presented with a review of the literature. We report an ongoing case of a 20-year-old patient with ambiguous genitalia and primary amenorrhea. On physical examination, we found that she had an underdeveloped breast and clitoral virilization with separate urethral and vaginal openings. We performed a G-banded chromosome analysis, with 46 XX results. Laboratory test showed her 17-hydroxyprogesterone level was immensely elevated, while her FSH, LH, and estradiol level was below normal. Ultrasound imaging revealed the absence of uterus and cervix. Nevertheless, we found a diminutive uterine remnant during diagnostic laparoscopy with normal ovaries and fallopian tubes. On vaginoscopy examination, we found her vagina to be 5 cm long with blind end. In the presence of primary amenorrhea in patients with CAH, it is important to investigate for possible associated mullerian anomalies.

Magnetic Resonance Imaging Findings in Mayer- Rokitansky-Küster-Hauser (MRKH) Syndrome: A Report of Two Cases

Introduction: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a kind of Müllerian duct anomaly characterized by the absence or underdevelopment of the uterus and the top two-thirds of the vagina. MRKH syndrome is characterized by primary amenorrhea in young women who exhibit typical development of secondary sexual characteristics and normal external genitalia. These individuals have normal and functioning ovaries and a karyotype of 46, XX. Gonadal dysgenesis is the most prevalent cause of primary amenorrhea, followed by this condition. This case report aims to elaborate on MRI findings in females with typical and atypical types of MRKH syndrome. Case Description: The authors describe two female patients who presented with primary amenorrhea, normal external genitalia, and typical secondary sexual characteristics. These patients underwent MRI to identify the uterine and vaginal structure and additional non-gynaecologic abnormalities. Conclusion: MRI is the best imaging technique for the accurate evaluation of pelvic anatomy, uterine aplasia, uterine development, vaginal structure, and location of the ovaries, hence essential in the diagnosis, classification, and surgical planning of MRKH syndrome.

Multimodality imaging of diseases of the vagina.

Pathologies of the vagina are important causes of symptoms related to the genital tract in women. They can be missed on transabdominal ultrasonography (USG), which is the baseline modality used for evaluation of gynaecological complaints. Transperineal USG and MRI are the imaging modalities of choice for evaluation of the vagina. Diseases of the vagina can be grouped depending upon the age group in which they occur. In children and young adults, congenital anomalies like longitudinal or transverse vaginal septum, imperforate hymen, vaginal aplasia or atresia, and rectovaginal fistula can be seen. Malignant tumours can rarely occur in children, rhabdomyosarcoma being the most common one. Common diseases affecting adults include benign lesions like epidermoid, Gartner duct, and Bartholin cysts, and urogenital fistulas involving the vagina. Endometriosis and other benign tumours of vagina including leiomyoma, fibroepithelial polyp, and angiomyxoma are occasionally seen. Malignant tumours can be primary, the most common one being squamous cell carcinoma, or secondary, due to direct extension from cancers involving the adjacent organs. Characteristic morphological changes occur in the vagina after radiotherapy, which can be identified on imaging. Knowledge about the imaging appearances of these diseases is crucial in guiding appropriate management.

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. Keywords: Pulmonary Hypoplasia; Infertility; Mullerian Aplasia; Left-Sided Superior Vena Cava; Case Report; India.

A case report of laparoscopic surgery for Mayer-Rokitansky-Küster-Hauser syndrome with preservation of functional primordial uterus

BackgroundIn the past, the primary treatment for MRKH syndrome (Mayer-Rokitansky-Küster-Hauser syndrome) with a functional primordial uterus was surgical removal of the functional primordial uterus. In rare instances, the endometrium of the functional primordial uterus is well developed, and surgical preservation of the functional primordial uterus provides the possibility of preserving reproductive function for these patients.Case presentationA 14-year-old female was diagnosed with type I MRKH syndrome with a functional primordial uterus through physical examination and imaging investigations. We freed the functional primordial uterus through laparoscopic surgery and excised a portion of the lower myometrium to create an outlet at a lower uterine segment, which we then intermittently anastomosed to the tip of the artificial vagina. The patient recovered well after the surgery, and a re-examination showed no significant abnormalities.ConclusionWe were successful in preserving the functional primordial uterus using laparoscopic surgery in a patient with MRKH syndrome and connecting it to an artificial vagina through reconstructive surgery to ensure unobstructed menstrual drainage and preserve the reproductive potential of the patient.

Mayer–Rokitansky–Küster–Hauser syndrome

The Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is an instructive story not only from a historical but also a gnoseological perspective. The mechanisms of embryogenesis as well as multiple aspects for correction of this syndrome remain enigmatic and unsolved. Here, we attempted to organize and detail striking issues related to MRKH syndrome.

10265 To Compare Efficacy of Vaginal Versus Laparoscopic Peritoneal Vaginoplasty in Women with MRKH Syndrome

10265 To Compare Efficacy of Vaginal Versus Laparoscopic Peritoneal Vaginoplasty in Women with MRKH Syndrome