Mayer-Rokitansky-Küster-Hauser Syndrome Research Articles

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

Estimation of the prevalence of uterine infertility and its different causes in France according to data from a literature review

IntroductionUterine infertility (UI) is defined as the complete absence of a uterus (absolute uterine infertility or AUI) or the presence of a non functional uterus (non-absolute uterine infertility or NAUI). The exact prevalence of uterine infertility is currently unknown. Our aim was to assess the number of French women concerned by Uterine Infertility according to a recent literature review. Materials and methodsWe have previously conducted a systematic review of the literature on UI and its various causes in the world. Based on these study and demographic data of 2022 from INSEE (Institut National de la Statistique et des Études Économiques), we attempted to estimate the number of women under 40 years of age in France affected by potential UI using direct standardization. Results and discussionBased on the estimation from INSEE data, approximately 2066 women of childbearing age would have MRKH syndrome in France, 380 the Androgen Insensitivity Syndrome and 3700 had an haemostasis hysterectomy in France. We did not find data on the prevalence of hysterectomies before the age of 40 in France. For the following pathologies: uterine malformations, radiation uterus, synechiae, myomas and adenomyosis there was a huge amount of missing data, which does not allow us to estimate the number of potentially infertile patients. ConclusionPrevalence of UI is poorly known. UI probably concerns several thousand patients in France. The creation of a UI registry would make enable to assess the number of patients potentially eligible for adoption, uterus transplantation or even surrogacy.

Long-term Results of Sexual Function and Body Image After Vaginoplasty With Acellular Dermal Matrix in Women With Mayer-Rokitansky-Küster-Hauser Syndrome

To describe the long-term anatomic and sexual functional results of vaginoplasty with acellular dermal matrix (ADM) in patients with Mayer-Rokitansky-Küster-Hauser (MRKH) and to evaluate the changes in body image pre- and postoperatively in these patients. A retrospective study from March 2015 to September 2021. A tertiary teaching hospital. Forty-two patients with MRKH syndrome who underwent vaginoplasty with ADM (the MRKH group) and 30 sexually active, nulliparous, aged-matched women (the control group). The relevant data were retrospectively collected via our electronic medical record system and were analyzed statistically. Vaginal length was assessed using a 3-cm-diameter mold. The Chinese version of the Female Sexual Function Index questionnaire was used to evaluate sexual function. The Chinese version of the modified body image scale was applied to evaluate body image. The median follow-up time was 57 months (range, 13-91 months). Granulomatous polyps in the neovagina were the most common postoperative complication (7 of 42, 16.7%). Patients with MRKH syndrome can achieve long-term satisfactory outcomes both anatomically and functionally after vaginoplasty with ADM, comparable with those of healthy control women. The vaginal length in the MRKH group was comparable to that in the control group ( 8.04 ± 0.51 cm vs. 8.15 ± 0.46 cm, respectively). The FSFI scores were similar between the MRKH (26.54 ± 3.44) and control (26.80 ± 2.23) groups. The modified body image scale score was significantly decreased after vaginoplasty with ADM. Vaginoplasty with ADM is a minimally invasive and effective procedure for patients with MRKH syndrome.

Mayer-Rokitansky-Kuster-Hauser Syndrome with Hyperandrogenemia: A Rare Case of Mullerian Dysgenesis

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome with hyperandrogenism is a variety of Müllerian duct anomalies categorized by congenital aplasia of uterus and upper part two third of the vagina usually associated with uncommonly high level of testosterone. The MRKH affects 1 out of 4500 women and it is the most common causes of primary amenorrhea, however there are only 4 cases reported of MRKH syndrome with hyperandrogenemia in literature2. The MRKH syndrome usually remains asymptomatic up until the patient complains with primary amenorrhea nonetheless with normal secondary sexual physical development. We reported a case of a 21-year-old female with MRKH syndrome with hyperandrogenism who presented with primary amenorrhea, physical examination include tanner stage 5 breasts, short vaginal canal, pubic hair stage 4 with absence of cervix, and no clitoromegaly. Transvaginal ultrasound shows an infantile uterus while MRI shows small uterus with inactive endometrium with an incidental findings of Tarlov cyst. Counseling, assurance and supportive psychotherapy were given to the patient. Follicle stimulating hormone, chest X-ray, 75 gram oral glucose tolerance test, BUN, creatinine, audiogram and electrocardiogram results were reported with normal ranges. Chromosomal analysis was 46 XX karyotype. Serum testosterone was markedly elevated at 11.1 nmol/L, above the normal values for female.

WITHDRAWN: Ectopic Kidney as a Clinical Manifestation of Type II MRKH Syndrome Patient: A Case Report

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Mayer-Rokitansky-Küster-Hauser syndrome patients’ interest, expectations and demands concerning uterus transplantation

ObjectiveTo better understand patients’ conditions and expectations before starting a uterus transplantation (UTx) program for women suffering from Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome). MethodA web-based survey was conducted among MRKH patients via the French national association network from March to August 2020. The questionnaire comprised twenty-eight questions about their desire for parenthood, their condition's characteristics and previous reconstructive procedures, opinions and knowledge about UTx. ResultsAmong the 148 participants, 88 % reported a desire for parenthood, and 61 % opted for UTx as their first choice to reach this aim. The possibility of bearing a child and having the same genetic heritage were the main motivations. Once informed about the usual course of an UTx protocol, only 13 % of the participants changed their mind and 3 out of 4 of them opted for UT. ConclusionUterus transplantation seems to be the first option to reach motherhood in patients suffering from MRKH syndrome. The development of UTx programs could meet the demands of this already well-informed population.

FRI413 Hormonal Menstural Suppression For Menstrual Obstruction: A Retrospective Review Of Patients With Complex Obstructed Uterovaginal Anomalies Who Underwent Surgical Management In A Tertiary Referral Centre

Abstract Disclosure: H.I. Learner: None. S.M. Creighton: None. S.A. Clarke: None. Aims: To describe the use of hormonal menstrual suppression in patients undergoing surgery for complex utero-vaginal anomalies with menstrual obstruction. Background: Obstructed menstruation can present with painful primary amenorrhea or progressive dysmenorrhea due to unilateral obstructing duplication utero-vaginal anomalies. Menstrual suppression is essential to relieve pain during investigation and surgical planning. The off licence use of progestogens, hormonal contraception and GNRH analogues is common but there is little literature describing their best use in this context. Methods: This was a retrospective case series review of patients undergoing surgical management of complex menstrual obstruction in a tertiary referral centre between 2016-2022. Data collected on age, diagnosis, symptoms, duration of symptoms, surgery, the type of endometrial suppression used and associated side effects.Patients with partial obstruction were excluded. Results: Eighty-four patients were identified from the surgical database. The median age at time of surgery was 16 years (range 11-36). Unilateral obstruction was managed in 53/84 and complete obstruction in 31/84. Diagnoses included obstructed hemi-vagina (32/84), unicornuate uterus with functional uterine remnant (19/84), transverse vaginal septum (15/84), cervical/vaginal agenesis (9/84), and Mullerian agenesis with functional uterine remnant (5/84). Symptom duration information was available in 74/84 with a median of 10 months(0-252 months). Changes to endometrial suppression treatment were required in most patients, with 50/84 (40%) remaining on their original prescription. The average number of treatment regimes was 2 (0-7). Menstrual suppression at time of surgery was Norethisterone 35/84 (42%), Continuous combined oral contraceptive pill18/84 (21%), Medroxyprogesterone 11/84 (13%), GNRH 10/84 (12%), Desogestrel 6/84 (7%), and Depo-Provera 4/84 (5%). Tibolone was used as add-back in five patients on GNRHa for more than 6 months duration of use (4/5) or hypoestrogenic side-effects (1/5) . Conclusion Menstrual suppression for pain relief is an essential component in management for complex uterovaginal anomalies. Suppression should be started at initial presentation but there is limited guidance for clinicians as to what and how to prescribe. Our study has demonstrated that this can lead to chaotic prescribing, unnecessary pain and multiple treatment changes. Presentation: Friday, June 16, 2023

FRI412 A Case of 46,XX Gonadal Dysgenesis With Mayer-Rokitansky-Küster-Hauser Syndrome And Primary Hypothyroidism

Abstract Disclosure: S. Al Allawi: None. R. Osman: None. Introduction: The association between Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and gonadal dysgenesis is rarely reported in the literature. Coexistence of hypothyroidism with this condition is scarce and clinical correlation remains unclear. We describe a case of this rare clinical entity in conjunction with primary hypothyroidism. Clinical case: A 27-year-old Female with a medical history of primary hypothyroidism was referred to our clinic for evaluation of primary amenorrhea. She was born with a female phenotype. Growth was appropriate, but puberty was delayed with self-reported late pubarche at age 19. She never had a menstrual cycle, and had received hormonal replacement therapy (HRT) for a few months but failed to trigger menarche. However due to financial constraints, treatment was not continued. She was diagnosed with hypothyroidism since birth, for which she is currently maintained on levothyroxine 225 mcg daily. On physical exam, blood pressure was 126/72 mmHg, pulse rate 83 BPM, height 5’9”, BMI 34 kg/m2. No facial dysmorphisms or skeletal deformity were apparent. She had normal pubic and axillary hair distribution, breast budding consistent with Tanner Stage II. Genital examination revealed normal external genitalia and a blind vaginal pouch. Hormonal workup revealed hypergonadotrophic hypogonadism with estradiol < 0.5 pg/mL and post-menopausal range follicle-stimulating hormone (FSH) 36.7 mIU/mL. Thyroid stimulating hormone (TSH) 2.19 uIU/ml (nl 0.45-4.5 uIU/mL) and anti-TPO antibodies 10 IU/mL (nl 0-34 IU/mL). Prior thyroid ultrasound reported a small thyroid gland. Fluorescence in situ hybridization (FISH) analysis revealed 46XX karyotype. Abdominal and pelvic ultrasound showed normal kidneys with a non-visualized uterus and ovaries. Pelvic MRI confirmed the absence of both and showed a blind end vaginal pouch, leading to the conclusion of the coexistence of gonadal dysgenesis with MRKH. She was then placed on transdermal estradioltherapy. Conclusion: The association between gonadal dysgenesis (the most common cause of primary amenorrhea) and MRKH syndrome (the second most common cause) is infrequent. HRT remains the only therapeutic option. It aims to trigger the development of secondary sexual characteristics and prevent osteoporosis by allowing appropriate bone mineral accrual. Unfortunately, infertility remains the most significant consequential issue; hence the availability of good caring and psychological counseling should not be underestimated. The co-existence of likely non-immune primary hypothyroidism is even less frequent. To our knowledge, our case is the second reported case of this trilogy. Given the paucity of data, the association of this condition with primary hypothyroidism cannot be well established and can be coincidental. More studies are needed to determine if this condition has a higher prevalence of hypothyroidism. Presentation: Friday, June 16, 2023

FRI387 Reproductive Capacity Of Znhit3 Knockout Mouse Model

Abstract Disclosure: D. Kira: None. Z.A. Hawkins: None. L.P. Chorich: None. S. Brakta: None. L. Gan: None. L.C. Layman: None. Introduction: Zinc finger, HIT domain containing 3 (ZNHIT3), also known as thyroid hormone receptor-interacting protein 3 (TRIP-3), is a 155 amino acid protein with an N-terminus Zinc finger HIT domain (11-42a.a) that is involved in pre-ribosomal RNA processing. It also has a C-terminus short conserved LxxLL binding motif that interacts with the ligand binding domain of the thyroid receptor in the presence of thyroid hormone as a co-activator associated with hepatocyte nuclear factor-4α (HNF-4α). ZNHIT3 is localized to the cytoplasm and the nucleus. Biallelic ZNHIT3 pathogenic variants in the N-terminus have been identified in persons with Progressive encephalopathy with Edema, Hypsarrhythmia, and Optic atrophy (PEHO) syndrome, a severe autosomal recessive neurodevelopmental disorder characterized by extreme cerebellar atrophy due to almost total loss of granule neurons. Heterozygous pathogenic variants in ZNHIT3 affecting the C-terminus have been demonstrated in individuals with Mayer-Rokitansky-Küster-Hauser (MRKH). MRKH consists of the congenital absence of the uterus and vagina, either as isolated Mullerian aplasia (type 1) or associated with renal, skeletal, cardiac, and auditory anomalies (type 2). Previous studies of animal models utilizing morpholino injection-induced knockdown and CRISPR editing of znhit3 in zebrafish both showed cerebellar defects and microcephaly. We are not aware of a mouse model of Znhit3.Hypothesis: We hypothesize that the Znhit3 knockout (KO) mouse will demonstrate reproductive abnormalities and an MRKH-related phenotype. Methods: Heterozygous Znhit3 (Znhit3+/-) KO mice were generated by CRISPR. A 1 base deletion was introduced in exon 2, creating a frameshift and a stop codon in exon 3, which leads to a truncated protein. We then crossed male and female Znhit3+/- mice and Znhit3+/- and wild-type Znhit3+/+ (WT) mice. Pups' genotypes were confirmed with DNA sequencing of tail samples. Pups were weighed weekly from age 3 weeks to 16 weeks. Results: Mating 17 pairs of Znhit3+/- mice resulted in a total of 73 pups born, of which 50 were Znhit3+/- and, 23 were WT with a ratio of almost 2:1. No homozygous Znhit3 (Znhit3-/-) KO pups were born. There was no significant difference in weights between Znhit3+/- and WT pups. Conclusion: Heterozygous Znhit3+/- animals appeared to be phenotypically normal with similar weights to WT. However, the Hardy-Weinberg equilibrium (1 homozygous wild-type: 2 heterozygous: 1 homozygous variant) was disrupted, as no Znhit3−/− homozygotes were born, suggesting embryonic lethality. It is possible that central nervous system, cardiac, and/or renal defects could be responsible for this lethality, which will be studied in embryos at E18.5, 15.5, and 12.5. A detailed phenotypic characterization will be performed with regard to reproductive function and MRKH-related organ development. Presentation: Friday, June 16, 2023

Recurrent human 16p11.2 microdeletions in type I Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome patients in Chinese Han population.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, a severe congenital malformation of the female genital tract, is a highly heterogeneous disease which has no clear etiology. Previous studies have suggested that copy number variations (CNVs) and single-gene mutations might contribute to the development of MRKH syndrome. In particular, deletions in 16p11.2, which are suggested to be involved in several congenital diseases, have been reported in Chinese type II MRKH patients and European MRKH patients. However, few CNVs including 16p11.2 microdeletions were identified in Chinese type I MRKH cases although it accounted for the majority of MRKH patients in China. Thus, we conducted a retrospective study to identify whether CNVs at human chromosome 16p11.2 are risk factors of type I MRKH syndrome in the Chinese Han population. We recruited 143 patients diagnosed with type I MRKH between 2012 and 2014. Five hundred unrelated Chinese without congenital malformation were enrolled in control group, consisting of 197 from the 1000 Genomes Project and 303 from Fudan University. Quantitative PCR, array comparative genomic hybridization, and sanger sequencing were conducted to screen and verify candidate variant. Our study identified recurrent 16p11.2 microdeletions of approximately 600 kb in two out of the 143 type I MRKH syndrome patients using high-density array-based comparative genomic hybridization (aCGH), while no 16p11.2 deletion was found in the control group. We did not find any mutations in TBX6 gene in our samples. The results of the study identify 16p11.2 deletion in Chinese MRKH I patients for the first time, as well as support the contention that 16p11.2 microdeletions are associated with MRKH syndrome in both types across populations. It is suggested that 16p11.2 microdeletions should be included in molecular diagnosis and genetic counseling of female reproductive tract disorders.

Mayer rokitansky kuster hauser syndrome with pituitary hypoplasia A rare case report from Pakistan

Mayer Rokitansky Küster Hauser Syndrome MRKH is a rare disorder characterized by congenital absence of the uterus and upper two thirds of the vagina in individuals with normal secondary sexual characteristics.

Features of intestinal microbiota in chronic pyelonephritis in a patient with Mayer–Rokitansky–Kustner–Hauser syndrome

MayerRokitanskyKstnerHauser syndrome is a congenital anomaly in the development of the female reproductive system, the essence of which is a violation of the intrauterine development of the Mllerian ducts, causing complete aplasia of the vagina and uterus. Deviation is a total or partial absence uterus, two upper thirds of the vagina, most often in combination with various anomalies of organs and systems, such as excretory, cardiovascular. Currently, the causes of this pathology are not fully understood studied. According to the World Health Organization, the percentage of hereditary factors intrauterine development disorders is approximately 10 to 25%. It is known that patients with this pathology often suffer from diseases of the urinary system (pyelonephritis). Chronic pyelonephritis is a common pathology in any age group due to excessive growth of the bacterial flora. The main causative agent, most often, are representatives of the intestinal microbiota (Escherichia coli, Enterococcus, Staphylococcus). Determination of the genus and species composition of the intestinal microbiota can serve as one of the diagnostic signs that contribute to the timely correction of the main therapy. Presented clinical case demonstrates a change in the biodiversity of the intestinal microbiota in a patient with MayerRokitanskyKstnerHauser syndrome, which entails timely correction of drug therapy regimens in relation to chronic pyelonephritis and achieving remission. Thus, the study of changes in the composition of the intestinal microflora can become a new criterion in the diagnosis and treatment of this disease at an early stage.

Long term sexual outcomes of Mayer Rokitansky Küster Hauser Syndrome patients after Uncu-modified Davydov procedure.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome has an incidence of 1 in 4000. The absence of the vagina and uterus results in sexual dysfunction and infertility. The first-line treatment is vaginal dilatation. There exists a number of second-line surgical options including the Uncu-modified Davydov procedure. To determine the complication rate, anatomical outcomes, and long-term sexual outcomes of MRKH syndrome patients after Uncu-modified Davydov procedure. Patients with MRKH syndrome who underwent paramesonephric remnant-supported laparoscopic double-layer peritoneal pull-down vaginoplasty (aka Uncu-modified Davydov procedure) between January 2008 and December 2021. The procedure involves laparoscopic circular dissection of the pelvic peritoneum followed by pulling down, through the opened vaginal orifice, and suturing the vaginal cuff with the support of uterine remnants. The long-term complication rate, anatomical outcomes, and sexual function outcomes (as measured by Female Sexual Function Index (FSFI)) were ascertained. Main Outcome Measures: The long-term complication rate, anatomical outcomes and FSFI survey results. A total of 50 patients with MRKH syndrome underwent the Uncu-modified Davydov procedure between Jan 2008- Dec 2021. There were four perioperative complications: three bladder injuries (6%) and one rectal serosa injury (2%). Four long-term postoperative complications were identified: one vesicovaginal fistula (2%), one recto-vaginal fistula (2%), and two vaginal stenoses (4%). All patients were physically examined at least one year after surgery. The mean vaginal length was 8.4 + 1.9 cm. The mean FSFI score was 31.5 + 3.9 (minimum score of 24, maximum score of 36). Conclusion: The Uncu-modified Davydov procedure has been demonstrated to be a safe and effective treatment option with high female sexual function index scores for patients with MRKH syndrome. The long-term complication rate, anatomical and sexual outcomes of Uncu-modified laparoscopic peritoneal pull-down vaginoplasty were reported in this study. The results indicated that the surgical approach could be used in selective MRKH patients who failed first-line self-dilatation therapy.

Germ Cell Tumors Ovary “Dysgerminoma” with Mayer-Rokitansky-Kuster-Hauser Syndrome

Background: Ovarian Germ Cell Tumors originate from primitive germinal cells and can be either malignant or benign. MRKH syndrome is characterized by congenital hypoplasia of the uterus and upper vagina and can occur due to disrupted fusion of the Mullerian ducts. Diagnosis of ovarian tumors in MRKH patients is difficult but can be characterized by abdominal pain and distended.Objective: The aim of this case report is to explain the diagnostic methods and interventions performed in patients with ovarian tumors and MRKH syndrome.Case Presentation: A 25-year-old female came to the hospital with complaints of a lower abdominal lump three months ago. It was followed by severe pain, weight loss, shortness of breath, and yellowish vaginal discharge. Physical examination showed anemia, obesity, and a vagina size of 7cm with a probe. Chest X-ray showed a mass in the mediastinum and pleural effusion, and USG showed suspicion of an ovarian cyst and uterine agenesis.Conclusion: Ovarian tumor with MRKH syndrome is a rare case. Diagnosis was based on the patient’s history, clinical findings, radiologic examination, and confirmed with laparotomy and histopathology. Regular examinations are recommended to prevent and identify genital tract problems and pelvic diseases in women, especially adolescents.