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Journal articles on the topic 'Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome'

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Published: 3 June 2025

Last updated: 20 July 2025

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P, Menaga. "Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH)." Nursing Journal of India CIX, no. 02 (2018): 56–59. http://dx.doi.org/10.48029/nji.2018.cix202.

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*Dr., Abiha Ahmad Khan Prof. S. A. Naaz Prof. Wajeeha Begum. "ISOLATED MAYER-ROKITANSKY-KUSTER-HAUSER (MRKH) SYNDROME: A CASE REPORT AND REVIEW OF THE LITERATURE." INDO AMERICAN JOURNAL OF PHARMACEUTICAL SCIENCES 05, no. 05 (2018): 4807–10. https://doi.org/10.5281/zenodo.1279544.

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Introduction: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a congenital disorder of unknown etiology, characterized by mullerian agenesis and can be associated with renal, skeletal and cardiac malformation. Most cases are sporadic. Case Report: We report a typical case of MRKH syndrome of a 16 year old female with normal renal system. Discussion: The diagnostic workup of patient presenting with primary amenorrhea should include history taking, physical examination, hormonal evaluation, imaging and chromosomal analysis. Normal levels of LH (Leutinizing Hormone) and FSH (follicle stimulating hormone) indicate appropriate ovarian function. On the other hand, imaging techniques such as USG and MRI highlight the exact anatomical defects. Conclusion: Absence of normal menstruation in young normal looking adolescent female should raise suspicion towards Mayer-Rokitansky-Kuster-Hauser Syndrome. Proper counseling of the patient regarding her future fertility and available therapies (surgical and non-surgical) should be explained. While MRKH syndrome is not a life-threatening disease, the diagnosis in adolescence has a significant influence on a patient’s life. Hence, counseling and proper supportive care are the mainstay for the management. Key Words: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, Mullerian agenesis, Neovagina, aplasia of the uterus, Primary amenorrhea.

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Kurniaty Hartono, Ines, and Anom Suardika. "Mayer Rokitansky Kuster Hauser (MRKH) Syndrome: A Case Report." International Journal of Science and Research (IJSR) 10, no. 4 (2021): 271–74. https://doi.org/10.21275/sr21403132457.

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Prionggo, Yanuar, and Eighty Mardiyan Kurniawati. "META-ANALYSIS : COMPARISON OF NEOVAGINA SUCCESS RATE WITH VECCHIETTI'S LAPAROSCOPIC METHOD AND DAVYDOV'S LAPAROSCOPIC METHOD IN MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME (MRKH) PATIENTS." Medical and Health Science Journal 4, no. 2 (2020): 97–102. http://dx.doi.org/10.33086/mhsj.v4i2.1641.

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ABSTRACT  Background Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) is caused by an embryological growth disorder of the mullerian duct. Laparoscopic Vecchietti and Davydov are laparoscopic surgery techniques that are often used for neovaginal surgery  Objective This paper aims to compare the success rate of neovagina with the Vecchietti laparoscopic method and Davydov's laparoscopic method in patients with Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH)  Methods: A systematic data search was performed on a medical database (PUBMED, MEDLINE, Cochrane Database, Google Scholar). Inclusion criteria: (1) randomized randomized study of the Vecchietti Laparoscopic Method with Davydov’s Laparoscopy, (2) all inclusive papers can be accessed completely, and (3) the data obtained can be accurately analyzed  Data acquisition and analysis: We searched for a random blind study (RCT) with the following keywords: (1) Vecchietti Laparoscopy [title] AND (2) Davydov’s Laparoscopy [title] AND Mayer-Rokitansky-Kuster-Hauser syndrome [title]  Results: Three RCTs comparing neovaginal success with the Vecchietti laparoscopic method and Davydov's laparoscopic method a total of 122 patients were analyzed. Average vaginal length (mean difference [MD] -0.70, and 95% [CI] -0.99 to -0.41 (P <0.00001), Average number of Female Sexual Function Index scores (mean difference [MD] -1.34, and 95% [CI] -1.71 through -0.96. (P <0.00001)  Conclusion This meta-analysis concludes that Davydov’s Laparoscopic Method is better in terms of postoperative vaginal length and the Female Sexual Function Index Score  Keywords Mayer-Rokitansky-Kuster-Hauser Syndrome,Laparoscopic Davydov,Laparoscopic Vecchietti,Vaginal Length,FSFI Score

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Ndiade, Amadou, Mbaye Thiam, Sérigne A. M. Dia, and Mama Sy. "Rare association of Turner syndrome and Mayer-Rokitansky-Kuster Hauser syndrome." International Journal of Reproduction, Contraception, Obstetrics and Gynecology 11, no. 12 (2022): 3402. http://dx.doi.org/10.18203/2320-1770.ijrcog20223141.

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Turner syndrome and Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare association. The incidences of Turner and MRKH syndromes are estimated at 1/2000 and 1/4500 female births respectively. This is a 23-year-old patient, born of a consanguineous marriage, who was referred to us for exploration of primary amenorrhoea. The karyotype, performed three times, from peripheral blood lymphocytes was 45X0. The diagnosis of Turner syndrome associated with MRKH syndrome was retained.

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Rusda, Muhammad, Delfi Lutan, Mervina Andarini, and Andrina Yunita M. Rambe. "Primary Amenorrhea with Mayer-Rokitansky-Kuster-Hauser Syndrome." Open Access Macedonian Journal of Medical Sciences 9, T3 (2021): 175–77. http://dx.doi.org/10.3889/oamjms.2021.6306.

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BACKGROUND: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare disorder described as aplasia or hypoplasia of uterus and vagina due to an early arrest in the development of Mullerian ducts. The etiology of MRKH syndrome remains uncertain: Although at the beginning, it was mentioned that this syndrome was the result of sporadic abnormalities. It has recently been assumed the genetic background is the cause of the increasing number of familial cases. CASE REPORT: A 29-year-old female patient presented with amenorrhea. She also has normal pubic and axillary hair and breast development. Routine investigations were normal. Genitalia inspection shows that pubic hair was well developed, labia majora and vagina were seen. Inspeculo show that vaginal wall was smooth, but portio was not seen. Vaginal examination result: The uterus was unpalpable, both adnexa were normal, parametrium was laxed, and Douglas pouch was not protruded. Rectal examination shows that uterus and both adnexa were difficult to identify. Transvaginal sonography revealed absence of uterus, both ovaries within normal. Transvaginal sonography diagnosed a uterine aplasia. With this, the provisional diagnosis made as primary amenorrhea due to suspected MRKH syndrome, the patient was referred for follicle-stimulating hormone, estradiol, testosterone, and prolactin levels by enzyme-linked immunosorbent assay examination and the result was within normal limit followed by genetic karyotyping and the result was normal 46, XX. CONCLUSIONS: We report a 29-year-old woman with primary amenorrhea. From our examination, the patient was diagnosed with MRKH syndrome. Uterus transplant is an alternative for that woman to treat amenorrhea and possibility to get pregnant.

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Nisha, Surendran. "A Review of Mayer Rokitansky Kuster Hauser Syndrome." Research & Reviews: Journal of Nursing in Women's Health and Midwifery 1, no. 1 (2025): 29–34. https://doi.org/10.5281/zenodo.15081032.

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Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder characterized by the absence or underdevelopment of the vagina and uterus, affecting approximately 1 in 4,500 to 1 in 5,000 female infants. Management involves a multidisciplinary approach, including medical, surgical, and psychological interventions. Vaginal dilation therapy, vaginal reconstruction surgery, and hormone replacement therapy may be necessary. MRKH syndrome is a complex and multifaceted condition requiring comprehensive and individualized management. Early diagnosis and intervention can significantly improve quality of life and fertility outcomes for affected individuals.

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Muinovna, Khamidova Farida, and Yakubov Munis Zakirovich. "CELLULAR RENEWAL OF THE INTESTINAL EPITHELIUM IN ARTIFICAL VAGINA IN WOMEN UNDERGOING VAGINOPLASTY." American Journal Of Biomedical Science & Pharmaceutical Innovation 4, no. 5 (2024): 29–39. http://dx.doi.org/10.37547/ajbspi/volume04issue05-06.

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Vaginal agenesis is a congenital disorder commonly associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, which is characterized by failure to develop the Müllerian duct and vaginal agenesis. This syndrome occurs in approximately 1 case in 4000-10,000 births [1].

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Londra, Laura, Kyle Tobler, John Wu, and Lisa Kolp. "Mayer-Rokitansky-Kuster-Hauser Syndrome Associated with Severe Inferior Vena Cava Stenosis." Case Reports in Obstetrics and Gynecology 2014 (2014): 1–3. http://dx.doi.org/10.1155/2014/745658.

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Precis. The postoperative course of a neovagina creation procedure in a young woman with Meyer-Rokitansky-Kuster-Hauser syndrome was complicated, despite prophylaxis, by extensive pelvic deep venous thrombosis secondary to unsuspected severe inferior vena cava stenosis.Background. Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital vaginal agenesis and an absent or rudimentary uterus in genotypical females. Malformations of the inferior vena cava (IVC) are not commonly associated with MRKH syndrome. We report a case of a patient with MRKH syndrome with severe IVC stenosis that was diagnosed when the patient presented with extensive pelvic deep venous thrombosis (DVT) during the postoperative course of a neovagina creation.Case. A 19-year-old female underwent a McIndoe procedure. Despite DVT prophylaxis, extensive pelvic DVT of the femoral vein was diagnosed on postoperative day 7. Therapeutic anticoagulation was initiated, and pharmacological and mechanical thrombolysis were performed. During these procedures, a hypoplastic IVC was noted.Conclusion. MRKH syndrome can be associated with IVC malformations, which constitute an anatomical risk factor for postoperative DVT.

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Gupta, NP, and MS Ansari. "Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome - a review." Indian Journal of Urology 18, no. 2 (2002): 111. http://dx.doi.org/10.4103/0970-1591.37398.

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Petric, Aleksandra, Milan Stefanovic, Predrag Vukomanovic, Radomir Zivadinovic, Aleksandra Tubic, and Zoran Janjic. "Acute abdomen in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome." Vojnosanitetski pregled 65, no. 9 (2008): 706–9. http://dx.doi.org/10.2298/vsp0809706p.

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Background. Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a malformation of female genital tract (incidence 1 in 4000 female newborn children). It appears as a result of a disorder in the development of Millerian cannals. Etiology is unknown. Syndrome MRKH is the most frequent cause of primary amenorrhoea (90%). Patients with MRKH have a normal female phenotype, with normal pubic hairness and thelarche, and female karyotype (46XX) followed by primary amenorrhoea. Hormonal status corresponds to healthy women, where the appearance of ovarian tumors and tumors on rudiment parts of uterus is possible. Case report. We presented a case of acute abdomen in a patient with previously not diagnosed MRKH. The diagnosis was done during the operation. Small pelvis and an abdominal part were filled with torquated tumor lump, where ovaries, oviducts, uterus or something resembling rudiment of uterus were not recognized through careful examination. Furthemore, the patient had a short, dead-end vagina. Tumorectomy was done and hystopathological finding showed the presence of vascular leiomyoma. Conclusion. The diagnosis of complex syndromes, such as MRKH, can, despite modern diagnostics, be absent for non-medical and psycho-social reasons. We can expect ovarian and uterine pathology on hypoplastic structures in these patients, as well as in healthy women. Vascular leiomyoma in the patients with MRKH was not found in the available literature.

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Mayuri, Jadhav, Nikam Vasudha, Ghorpade Vijay, Patil Asha, and Pote J. "Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: A Case Report." Journal of Research in Medical and Dental Science 2, no. 1 (2014): 106. http://dx.doi.org/10.5455/jrmds.20142120.

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Islam, Md Kabirul, Md Shah Alam, Abdul Hanif, Md Kamrul Hasan, and Mizanur Rahman. "Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome A Case ReportRT." Journal of Paediatric Surgeons of Bangladesh 1, no. 1 (2014): 70–73. http://dx.doi.org/10.3329/jpsb.v1i1.19468.

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We report a case of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome in a 25 year old married lady. Though it is a congenital abnormality, she presented as primary infertility after 2 year of her marriage and was referred to us from a Gynaecologist. She had absent vagina, rudimentary uterus with no cervix. Her ovaries were severely hypoplastic. The anus was placed anteriorly and opened into the vulva. In spite of absence of her vagina, the lady somehow maintained her married life by doing intercourse through the anteriorly placed rectum. The vagina was made from the lower end of existing rectum which opened into the vulva. The proximal end of the rectum and left colon were pulled through the pelvis and opened into the perineum. It improved her quality of life.DOI: http://dx.doi.org/10.3329/jpsb.v1i1.19468

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Ketheeswaran, A., J. Morrisey, J. Abbott, M. Bennett, J. Dudley, and R. Deans. "Vaginal Dilation in Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome." Journal of Minimally Invasive Gynecology 22, no. 6 (2015): S103—S104. http://dx.doi.org/10.1016/j.jmig.2015.08.279.

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Basoeki, Rijanto Agoeng, Alyaa Nabiila, Adinda Narulitia, et al. "Germ Cell Tumors Ovary “Dysgerminoma” with Mayer-Rokitansky-Kuster-Hauser Syndrome." MAGNA MEDICA Berkala Ilmiah Kedokteran dan Kesehatan 10, no. 2 (2023): 239. http://dx.doi.org/10.26714/magnamed.10.2.2023.239-251.

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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.

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Gutiérrez Delgado, MP, M. Ruiz López, J. Collado Alcázar, S. Mera Velasco, and J. Santoyo Santoyo. "Complex perianal fistula in patient with Mayer-Rokitansky-Kuster-Hauser syndrome." Cirugía Andaluza 31, no. 1 (2020): 85–88. http://dx.doi.org/10.37351/2020311.14.

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Resumen Introducción: el síndrome de Mayer-Rokitansky-Kuster-Hauser (MRKH) afecta a 1/4.000-5.000 recién nacidos, consistiendo en un fallo en el desarrollo de útero y vagina. Las malformaciones anorrectales asociadas a este síndrome son raras, propiciando la aparición de síntomas más precoces en la infancia. Caso clínico: mujer de 28 años con MRKH con fístula perianal compleja intervenida en varias ocasiones sin conseguir un tratamiento definitivo de la misma. En resonancia magnética se aprecia trayecto transesfinteriano junto con colecciones anteriores y posteriores a aparato genital. Se interviene de forma conjunta en dos tiempos con Cirugía Plástica, realizándose fictulectomía con confección de neovagina mediante colgajos Singapore. La paciente se encuentra actualmente sin sintomatología perianal. Discusión: existen dos subtipos de MRKH, el tipo I o típico en el que se describe únicamente la malformación uterovaginal y el tipo II o atípico en el que aparecen asociadas otras malformaciones. Existen pocos casos publicados en la literatura de síndrome de MRKH asociado a malformaciones anorrectales, siendo la más común la fístula rectovestibular. No existe consenso sobre la conveniencia de reparación de ambas anomalías en un mismo acto quirúrgico o en dos actos.

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Bellal, Amulya Reddy, Puneet Shirbur, and Geetha R.G. "Mayer-Rokitansky-Kuster-Hauser Syndrome - A Detailed Study of Nine Cases." Journal of Evidence Based Medicine and Healthcare 7, no. 43 (2020): 2479–84. http://dx.doi.org/10.18410/jebmh/2020/513.

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BACKGROUND Mayer-Rokitansky-Küster-Hauser Syndrome or MRKH Syndrome is a rare condition and is the second most common cause of primary amenorrhea, comprising of vaginal atresia (upper two thirds), rudimentary uterus, normal fallopian tubes, ovaries, broad and round ligaments. The spectrum of uterine anomalies (hypoplasia or duplication) include a partial lumen to a bicornuate or septate uterus with obstruction (unilateral or bilateral). The incidence is 1 in 4500 - 5000 female live births, presenting with primary amenorrhoea. The secondary sexual characteristics, external genitalia, ovaries and karyotype are normal. There are two types - the first type is the isolated form and the second type also termed as MURCS association [Müllerian duct aplasia, renal dysplasia-agenesis, hydronephrosis, horseshoe kidney and cervicothoracic anomalies such as fused vertebrae, scoliosis etc.]. Initial assessment with ultrasound scan of abdomen and pelvis followed by MRI study of the abdomen and pelvis are the imaging modalities of choice. METHODS This is a case series of 9 female patients who had presented to the Department of Obstetrics & Gynaecology and the Department of Radiodiagnosis from July 2019 to June 2020, aged between 15 and 20 years with a chief complaint of anxiety due to primary amenorrhoea. Following a thorough clinical, gynaecological and biochemical evaluation (levels of FSH, LH and 17 beta oestradiol), radiological examination (ultrasound and MRI - abdomen and pelvis) was conducted. RESULTS In our study, out of a total of nine cases, six cases were MRKH Type I and three were MRKH Type 2. All the nine cases presented with primary amenorrhoea, normal secondary sexual characteristics (except one case with ectopic atrophic ovaries) and normal external genitalia. Available hormonal profile was unremarkable. Uterus was not palpable on PV and per speculum examination. Along with the above features, when features of only hypoplastic / infantile / rudimentary / absent uterus with hypoplastic / absent upper two thirds of vagina, normal pelvic ovaries or ectopic inguinal ovaries was present, a diagnosis of MRKH Type–I was given. With additional features of renal abnormalities or skeletal system abnormalities, a diagnosis of MRKH Type–II was given. CONCLUSIONS MRKH syndrome is a condition caused due to the failure of fusion of Müllerian duct derivatives. It affects 1 in 4500 - 5000 female live births. It is a class I Mullerian duct anomaly including vaginal atresia, uterine anomalies & malformations of the upper urinary tract. There are two types in this. USG and MRI of the abdomen and pelvis are helpful in imaging this condition. KEYWORDS MRKH Syndrome, Ultrasound, MRI, MURCS Association

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Arsy, Gardha Rias, and Retty Ratnawati. "PSYCHOSOCIAL SUPPORT IN SELF-ACTUALIZING MAYER ROKITANSKY KUSTER HAUSER SYNDROME WOMEN." Nurse and Health: Jurnal Keperawatan 10, no. 1 (2021): 45–51. http://dx.doi.org/10.36720/nhjk.v10i1.211.

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Background: Self-concept is an individual's mode to completely see his personality, dealing with intelligence, emotion, spirituality, physical form, or social form. It provides continuity, consistency, and completeness for an individual. An individual with excellent self-concept could maintain their feeling of stability and positive behaviors directed for himself or other people. From the data of the MRKH community, thirty-three people were suffering MRKH in Indonesia. Objectives: This research explored the self-concept experiences of women with Mayer Rokitansky Kuster Hauser syndrome. Methods: This research is qualitative research with a phenomenological approach Interpretation. The data were collected from an in-depth interview with a structured design for seven participants. Results: Such reproduction organ problems influence their life qualities because they think that a perfect woman's identity is to have a normal reproduction organ. This problem also influences their psychologies and have psychological and emotional traumas as well as self-concept changes. However, they tried to endure it and actualize themselves because they obtained support from their families and the MRKH community. Conclusion: The states suffered by women with reproduction system problems influenced their psychological stabilities. The participants' medical teams should collaborate with psychiatrists and psychologists to foster a positive self-concept of the participants. Psychological counseling could improve their self-confidence and foster positive self-concepts.  Keywords: Psychosocial Supports, Self-Actualization, Mayer Rokitansky Kuster Hauser Syndrome.

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Chandekar, Akanksha Sanjay, Sushma Rakesh Shah, Monica George, and Riya Vaghela. "A case of Mayer-Rokitansky-Kuster- Hauser syndrome type I." Indian Journal of Obstetrics and Gynecology Research 11, no. 2 (2024): 301–3. http://dx.doi.org/10.18231/j.ijogr.2024.057.

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Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare congenital disorder characterised by absence of uterus and vagina. Ovaries and fallopian tubes are normal and functional. Its incidence is 1 in 4500-5000 female. Patients present with primary amenorrhea with normal external genitalia and development of secondary sexual characteristics, and 46XX karyotype. It is usually diagnosed by MRI, CT or transabdominal USG, with MRI being the gold standard.

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Sutedja, Melody Nethania, and Florely Joy Estrera-Gregorio. "Mayer-Rokitansky-Kuster-Hauser Syndrome with Hyperandrogenemia: A Rare Case of Mullerian Dysgenesis." Archives of The Medicine and Case Reports 4, no. 4 (2023): 510–19. http://dx.doi.org/10.37275/amcr.v4i4.399.

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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.

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Malik, Renuka, Avani Goyal, and Meenakshi Bhardawaj. "Fibroid with unilateral streak ovary in Mullerian Agenesis!a rare case report." International Journal of Reproduction, Contraception, Obstetrics and Gynecology 7, no. 8 (2018): 3392. http://dx.doi.org/10.18203/2320-1770.ijrcog20183352.

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Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare anomaly (1/5000) associated with uterine and vaginal aplasia with normal ovaries. A fibroid in a normal uterus is common but a fibroid arising from rudimentary horn in Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is very rare. It is also rare to have the association of unilateral ovarian dysgenesis in MRKH. A 37 year old married female with primary amenorrhea presented to the OPD of Dr. RML Hospital with abdominopelvic mass for one year. She was phenotypically normal looking and there was no other associated cardiac, ocular or skeletal abnormality. A large 15 × 15 cm abdominopelvic mass was present in suprapubic area which was firm in consistency and non-tender. A Two and a half inch long blind vaginal pouch was present with absence of cervix and uterus. A provisional diagnosis of solid ovarian tumor in MRKH syndrome was made. Her investigations -Serum FSH, LH, estradiol and tumor markers were normal. Her ultrasound and MRI reported a fibroid with normal ovaries. Laparotomy revealed absence of uterus and cervix and a large fibroid arising from right rudimentary horn with left streak ovary. Right ovary was enlarged to 4 × 4 cm, showing multiple small follicles. Fibroid along with the rudimentary horns and the streak ovary was removed, preserving the normal right ovary. Histopathology confirmed the diagnosis of leiomyoma in rudimentary horn with left streak ovary, making it class1 type b anomaly under American fertility society classification. Preoperative assessment of rare anomalies can be different from intraoperative findings in certain female reproductive tract anomalies. Awareness of rare combinations can help in judicious management of such cases.

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Sanfilippo, Joseph S. "Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome: It's More Than the Anatomy." Journal of Pediatric and Adolescent Gynecology 22, no. 6 (2009): 337–38. http://dx.doi.org/10.1016/j.jpag.2009.09.010.

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Anant, Monika, Nutan Raj, Neelu Yadav, Arun Prasad, Subhash Kumar, and Ajit K. Saxena. "Two Distinctively Rare Syndromes in a Case of Primary Amenorrhea: 18p Deletion and Mayer–Rokitansky–Kuster–Hauser Syndromes." Journal of Pediatric Genetics 09, no. 03 (2019): 193–97. http://dx.doi.org/10.1055/s-0039-1700577.

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AbstractMayer–Rokitansky–Kuster–Hauser (MRKH) syndrome and 18p deletion syndrome, two genetic disorders having distinct genetic etiologies, have an exceedingly rare likelihood of coexistence. Vaginal agenesis or MRKH syndrome, the developmental failure of Mullerian ductal system-derived structures in a genotypic female fetus (46, XX), leads to congenital absence of uterus and vagina in variable degree. The 18p deletion syndrome is a rare chromosomal disorder, characterized by dysmorphic features, stunted growth, and mental retardation, which is caused by deletion of a part or all of the short arm of chromosome 18. A detailed evaluation of primary amenorrhea in a 16-year-old girl yielded both MRKH syndrome and 18p deletion syndrome. Extensive literature search could not identify any reported case bearing this combination of syndromes. This case presentation and review emphasizes on the importance of karyotyping in MRKH patients having atypical features.

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Pizzo, Alfonsa, Antonio Simone Laganà, Emanuele Sturlese, et al. "Mayer-Rokitansky-Kuster-Hauser Syndrome: Embryology, Genetics and Clinical and Surgical Treatment." ISRN Obstetrics and Gynecology 2013 (February 4, 2013): 1–10. http://dx.doi.org/10.1155/2013/628717.

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Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a pathological condition characterized by primary amenorrhea and infertility and by congenital aplasia of the uterus and of the upper vagina. The development of secondary sexual characters is normal as well as that the karyotype (46,XX). Etiologically, this syndrome may be caused by the lack of development of the Müllerian ducts between the fifth and the sixth weeks of gestation. To explain this condition, it has been suggested that in patients with MRKH syndrome, there is a very strong hyperincretion of Müllerian-inhibiting factor (MIF), which would provoke the lack of development of the Müllerian ducts from primitive structures (as what normally occurs in male phenotype). These alterations are commonly associated with renal agenesis or ectopia. Specific mutations of several genes such as WT1, PAX2, HOXA7-HOXA13, PBX1, and WNT4 involved in the earliest stages of embryonic development could play a key role in the etiopathogenesis of this syndrome. Besides, it seems that the other two genes, TCF2 (HNF1B) and LHX1, are involved in the determinism of this pathology. Currently, the most widely nonsurgical used techniques include the “Frank’s dilators method,” while the surgical ones most commonly used are those developed by McIndoe, Williams, Vecchietti, Davydov, and Baldwin.

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Akhter, Nasreen, and Badrunnesa Begum. "Evaluation and management of cases of primary amenorrhoea with MRKH syndrome." Bangladesh Medical Journal Khulna 45, no. 1-2 (2013): 24–29. http://dx.doi.org/10.3329/bmjk.v45i1-2.13626.

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The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, the second most common cause of primary amenorrhoea usually remains undetected until puberty and is characterized by congenital aplasia or hypoplasia of the uterus and most of the vagina in women showing normal secondary sexual characteristics. MRKH syndrome may be isolated (type I) but is more frequently associated with renal, vertebral, and, to a lesser extent, auditory and cardiac defects (MRKH type II or MURCS association). Complete evaluation of MRKH patient includes genital, urinary tract, cardiac, spinal and auditory assessment which need multidisciplinary approach. This review is an attempt to discuss the subtypes, associated anomalies, diagnostic consideration and treatment recommendations of patients with MRKH syndrome and aimed to make the specialists of other discipline, general physicians and the gynaecologists well aware about the entity. DOI: http://dx.doi.org/10.3329/bmjk.v45i1-2.13626 Bang Med J (Khulna) 2012; 45 : 24-29

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Z, Nur Aisyah, Rohaya AR, Fatimah Zaherah MS, Yusniza Y, and Rohan AG. "A RARE CASE OF CO-EXISTENCE PITUITARY MACROADENOMA WITH MAYER-ROKITANSKY-KUSTER-HAUSER (MRKH) SYNDROME." Journal of the ASEAN Federation of Endocrine Societies 34 (July 17, 2019): 46. https://doi.org/10.15605/jafes.034.s77.

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INTRODUCTIONMayer-Rokitansky-Kuster-Hauser (MRKH) syndrome or Müllerian agenesis is a congenital failure of the Müllerian duct to develop, resulting in complete or partial absence of the cervix, uterus, and vagina. It can be isolated (MRKH type I) or associated with renal, vertebral, auditory and cardiac defects (MRKH type II). It is not known that pituitary disease has any association with this condition. We report a patient who has MRKH type I and a pituitary macroadenoma, diagnosed concomitantly. CASEA 17-year-old lady was referred with primary amenorrhoea, occasional headache, nausea and lethargy. She denies any reduction or loss of vision. On clinical assessment, she had normal secondary female sexual characteristics, with Tanner stage 3. There was no significant family history. Hormonal investigations showed high prolactin level; 4200 miU/L (post dilutional). Estradiol was low, 37 pmol/l (93–1400 pmol/l), as well as FSH 2.38 U/L, LH 0.96 U/L, progesterone <0.3 nmol/L and testosterone <0.45nmol/L. Cortisol level 206 nmol/L, FT4 7.5 pmol/L with TSH 5.091 mIU/L. MRI of pituitary showed 2.7 cm (AP) x 3.7 cm (W) x 4.6 cm (CC) pituitary macroadenoma, with mass effect, infiltration into left cavernous sinus and encasement of cavernous portion of left ICA. MRI pelvis showed absent uterus, cervix and 2/3 upper vagina confirming Müllerian hypoplasia. Cytogenetics showed 46XX. Diagnosis of Mayer Rokitansky Kauser Hauser Syndrome and panhypopituitarism secondary to pituitary macroadenoma was made. She was treated with hydrocortisone, levothyroxine and cabergoline. Follow up MRI has shown reduction in tumour size. However, she has remained amenorrhoeic. CONCLUSIONThe estimated prevalence of MRKH syndrome is one in 4500 female births. The etiology of MRKH syndrome remains unclear. There is no known association with pituitary disease. To the best of our knowledge this is the first case of co-existing MRKH syndrome and pituitary adenoma reported from the ASEAN world.

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Agarwal, Deeptanshu, A. Q. Jilani, Priyadarshi Srivastava, S. B. Gupta, Anju Agarwal, and Ajay Kohli. "MAYER-ROKITANSKY-KUSTER-HAUSER (MRKH) SYNDROME WITH BEHAVIOURAL DISTURBANCE AND MENTAL RETARDATION - A CASE REPORT." Era's journal of medical research 4, no. 1 (2017): 38–39. http://dx.doi.org/10.24041/ejmr2017.7.

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Kadian, Kavita, R. Vishnu, Kirandeep Kaur, and Kalyani Sridharan. "Abstract 139: Cystic parathyroid adenoma with Mayer Rokitansky Kuster Hauser syndrome: Association or coincidence?" Indian Journal of Endocrinology and Metabolism 26, Suppl 1 (2022): S48. http://dx.doi.org/10.4103/2230-8210.342354.

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Introduction: Majority of cases of primary hyperparathyroidism (PHPT) are due to single gland adenoma. Cystic parathyroid adenomas are very rare. We report an unusual case of PHPT due to a cystic adenoma with Mayer Rokitansky Kuster Hauser (MRKH) Syndrome. Case Presentation: A 30-year-old woman with primary amenorrhoea presented with polyuria and bilateral renal stone disease. Biochemical investigations showed corrected calcium of 13mg/dl and parathormone (PTH) levels of 418 pg/ml. Ultrasonography of neck showed solid cystic nodule and Sestamibi scan showed nonMIBI-avid hypodense nodule in right thyroid lobe. Intracystic fluid aspirated from the lesion showed PTH of >2000 pg/ml. The lesion was surgically excised and patient achieved surgical remission. Evaluation of primary amenorrhea showed normal gonadotropins and hypoplastic uterus and upper two-thirds of vagina on magnetic resonance imaging of pelvis which was consistent with MRKH syndrome. Since literature review showed HNF1B to be associated with genitourinary abnormalities and PHPT, after patient consent sample for HNFIB mutation was sent and is awaited. Conclusion: Possibility of cystic parathyroid adenoma should be kept while localizing for PHPT as it poses a diagnostic challenge. Concurrent MRKH syndrome could be a true association or a mere coincidence.

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Ghizlane, Ezzahhar, El Haid Yousra, El Fellah Sara, Adali Imane, and Manoudi Fatiha. "PSYCHOSE AIGUE DANS LE SYNDROME DE ROKITANSKY AVEC AGENESIE RENALE : A PROPOS DUN CAS." International Journal of Advanced Research 11, no. 09 (2023): 1410–12. http://dx.doi.org/10.21474/ijar01/17661.

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Le syndrome de Mayer-Rokitansky-Kuster-Hauser (MRKH) est une malformation rare de la filiere genitale chez la femme. Il se definit par une agenesie de luterus et du vagin avec des ovaires normaux. Il est du a un defaut de migration des canaux de Muller vers le sinus urogenital lors de la vie embryonnaire. Cest une entite dimpact psychologique lourd et qui necessite une prise en charge pluridisciplinaire. Dans ce rapport de cas nous discutons lune des presentations psychiatriques du syndrome et la necessite de traiter et gerer ces problemes psychiatriques associes aux anomalies congenitales du systeme reproducteur.

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Rifai, Kaoutar, Lamyae Echchad, Nawal Moussaid, Hinde Iraqi, and Mohamed El Hassan Gharbi. "Precocious Puberty as an Unusual Presentation in Mayer-Rokitansky-Kuster-Hauser Syndrome: A Case Report." Saudi Journal of Medicine 8, no. 06 (2023): 360–62. http://dx.doi.org/10.36348/sjm.2023.v08i06.007.

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Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder that affects the female reproductive system, resulting in uterovaginal agenesis. It’s typically presented as primary amenorrhoea in adolescence in female with normal development of secondary sexual characteristics and 46, XX karyotype. In this article, we report an unusual case of MRKHS of a girl of 7 years old who consulted for premature thelarche & pubarche. She has a normal karyotype (46, XX) with normal external genetalia. Gonadotropin releasing hormone (GnRH) stimulation test revealed a peak LH level of 1.77 UI/l and peak FSH level of 5.44 UI/l. Imaging disclosed advanced bone age at 10 years. Pelvic MRI showed uterine hypoplasia with partial vaginal agenesis.

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Choudhary, Arpit, Navneet Takkar, Dilpreet Kaur Pandher, and Mohit Satodiya. "A rare case of broad ligament fibroid in Mayer-Rokitansky-Küster-Hauser syndrome." International Journal of Reproduction, Contraception, Obstetrics and Gynecology 12, no. 6 (2023): 1892–95. http://dx.doi.org/10.18203/2320-1770.ijrcog20231576.

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Mayer-Rokitansky Kuster Hauser (MRKH) syndrome with lieomyoma is a rare disorder. Women with this syndrome have normal 46 XX karyotype, normal secondary sex characteristics and primary amenorrhea. There is a scarcity of cases in the literature where fibroid develops in women suffering from MRKH syndrome. Here, we present a case of an ectopic broad ligament fibroid found in a 41-year-old woman with MRKH syndrome type II. A 41-year-old married nulliparous female diagnosed with MRKH syndrome 20 years back, presented with an abdominal mass. Trans-abdominal ultrasound suggested a large mass on right side arising from paracolic area with heterogeneous echo texture. However, the ovarian vs leiomyoma origin of mass was of diagnostic dilemma. CEMRI confirmed the same findings and ruled out ovarian origin of the mass along with the presence of rudimentary uterus. Following this, the patient was taken for laparotomy followed by total abdominal hysterectomy with bilateral salpingoopherectomy, the fibroid was found to be arising from broad ligament and was removed along with the hypoplastic uterus and bilateral Fallopian tubes and ovaries. The case we presented exhibits the development of leiomyomas in patients with MRKH syndrome, although rare, is always a possibility and should be kept in mind as a differential diagnosis while evaluating an abdominopelvic mass. MRI is an accurate modality both for delineating the mass, confirming its origin as well as diagnosing MRKH syndrome.

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Chatterjee, Polly, Avishek Bhadra, Abhinibesh Chatterjee, and Rumela Biswas. "Laparoscopic uteroneovaginal anastomosis in Mayer-Rokitansky Kuster-Hauser syndrome with functioning horns: a case report." International Journal of Reproduction, Contraception, Obstetrics and Gynecology 13, no. 12 (2024): 3768–70. http://dx.doi.org/10.18203/2320-1770.ijrcog20243623.

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Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital absence of the upper two-thirds of the vagina and a rudimentary or absent uterus, resulting in primary amenorrhea while maintaining normal secondary sexual characteristics. This condition arises from the agenesis or hypoplasia of the mullerian ducts and has an incidence of 1 in 4,000 to 5,000 female births. While most patients possess a non-functioning rudimentary uterus, a minority have functioning endometrium, often leading to complications such as pelvic pain due to hematometra or endometriosis. Surgical interventions typically involve the excision of rudimentary uterine structures, which may relieve pain but eliminate menstruation and the potential for pregnancy. This case details a novel two-stage laparoscopic technique to restore utero-vaginal continuity, thereby enabling menstruation and potential future pregnancies. A 28-year-old woman with MRKH syndrome presented with cyclic abdominal pain since adolescence. Imaging revealed bilateral rudimentary uterine structures with functioning endometrium. A two-stage laparoscopic procedure was performed: initially creating a neovagina and anastomosing the uterine components, followed by re-anastomosis and placement of a copper T multiload 375. The patient experienced her first menstruation 20 days post second surgery, achieving regular cycles thereafter. Follow-up ultrasounds confirmed normal uterine morphology and endometrial thickness. This case underscores the importance of a holistic management approach for MRKH syndrome, and introducing innovative surgical techniques. Our reproducible laparoscopic procedure demonstrates promising outcomes for restoring menstrual function and reproductive potential in patients with a functioning endometrium.

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Hoo, P. S., A. R. Norhaslinda, and J. N. Shah Reza. "Rare Case of Leiomyoma and Adenomyosis in Mayer-Rokitansky-Kuster-Hauser Syndrome." Case Reports in Obstetrics and Gynecology 2016 (2016): 1–4. http://dx.doi.org/10.1155/2016/3725043.

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We report a case of adenomyosis which developed from a hypoplastic uterus and leiomyoma in a patient with MRKH syndrome. A 45-year-old Malay female with primary amenorrhoea and primary infertility presented with abdominal mass and abdominal pain. She is phenotypically female, has well developed secondary sexual characteristics, and has normal female external genitalia with shallow vagina dimple. Transabdominal ultrasonography showed a homogenous adnexal mass of 10 × 8 cm, uterus sized 5 × 4 cm, and normal kidneys. A complex mass of right adnexa was demonstrated by CT scan. Exploratory laparotomy showed torsion of right adnexal mass and rudimentary uterus with fibroid but no endometrial tissue and blind end with absent cervix. The normal right ovary and tube were not visualized. The left fallopian tube and ovary were normal. It is also complicated by vaginal agenesis. Removal of right adnexal mass and rudimentary uterus was done with preservation of left ovary. The histologic diagnosis was uterine adenomyosis and leiomyoma arising from the right adnexa, possibly from the broad ligament.

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Chakravarty, Baidyanath, Soma Singh, Manju Chakravarty, and Astha Chakravarty. "Large Fibroid arising from Mullerian Remnant Mimicking as Ovarian Neoplasm in a Woman with MRKH Syndrome." International Journal of Infertility & Fetal Medicine 3, no. 1 (2012): 30–32. http://dx.doi.org/10.5005/jp-journals-10016-1037.

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ABSTRACT In this article, a large leiomyoma with degenerative changes arising from the rudimentary uterine knob in a patient with Mayer- Rokitansky-Kuster-Hauser (MRKH) syndrome and mimicking an ovarian neoplasm is reported. The patient was a 39-year-old woman, known case of MRKH with vaginal aplasia who presented with pain abdomen, loss of appetite and weight. On physical examination, a large pelvic mass was detected. A provisional diagnosis of left ovarian neoplasm was made on USG and CT scan for which an exploratory laparotomy was performed. Finally, it was diagnosed as a case of multiple leiomyomas with hyaline degeneration on histopathological examination. Myoma arising from a rudimentary uterine knob/anlage is a rare finding but should be considered in the differential diagnosis of pelvic mass in patients with MRKH syndrome. How to cite this article Singh S, Chakravarty B, Chakravarty M, Chakravarty A. Large Fibroid arising from Mullerian Remnant Mimicking as Ovarian Neoplasm in a Woman with MRKH Syndrome. Int J Infertility Fetal Med 2012;3(1):30-32.

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Pan, Pradyumna. "Surgical and functional outcome of sigmoid colon-vaginoplasty in Mayer-Rokitansky-Kuster-Hauser syndrome." International Journal of Reproduction, Contraception, Obstetrics and Gynecology 6, no. 10 (2017): 4441. http://dx.doi.org/10.18203/2320-1770.ijrcog20174421.

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Background: The objective of this study is to report our experience with sigmoid vaginoplasty in adolescent female patients of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome with emphasis on the effectiveness of surgery, complications, sexual and functional outcomes.Methods: A retrospective study of adolescent females with vaginal atresia and Mayer-Rokitansky-Kuster-Hauser syndrome. The sigmoid segment was used for vaginoplasty in all the case.Results: Eleven females were studied over a period of 15 years. Postoperative complications were perineal rash in 3, ileus in 3, and minor wound infection in 1 patient and urinary tract infection in one patient. Nine patients were on regular follow-up. All the neovaginas were patent and functional. The postoperative mean vaginal length was 12.1 cm (range 11 cm to 14 cm). One of the patients had mild vaginal stenosis which responded to vaginal dilation, one had mucosal prolapse of the neovagina, one had excessive mucus discharge, during follow-up visits. Out of the 11patients, 8 patients are sexually active and 7 reported that they were engaging in satisfactory sexual activity with mild or no pain, and with good mucosal sensitivity. Only one experienced dyspareunia and three patients had not participated in sexual activity.Conclusions: Sigmoid vaginoplasty is a safe and acceptable procedure for vaginal agenesis with good cosmetic results and acceptable complications rate. Sigmoid colon vaginoplasty is the treatment of choice because of its large lumen, thick walls resistant to trauma, adequate secretion allowing lubrication, not demanding prolonged dilatation and short recovery time.

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Adjoby, Cassou R., Soh V. Koffi, Denis Effoh, et al. "Mayer-Rokitansky-Kuster-Hauser syndrome and ovarian benign teratoma: a case report." International Journal of Reproduction, Contraception, Obstetrics and Gynecology 9, no. 2 (2020): 815. http://dx.doi.org/10.18203/2320-1770.ijrcog20200383.

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Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is an unknown congenital etiology disorder characterized by agenesia or hypoplasia of the Müller ductal system, including the upper vagina, uterus and fallopian tubes. The occurrence of an associated ovarian tumor is rare, with fewer than 20 cases reported to date according to the literature. We report the case of a 14-year-old girl, virgin, who had not yet seen her menarche, complaining of an abdomino-pelvic mass associated with pain. The ultrasound performed revealed a large left ovarian tumor and an absence of uterus. The indication of a laparotomy confirmed the ovarian mass and a complete absence of uterus associated with vaginal hypoplasia. The contralateral ovary was present, and of normal appearance. The pathological examination was in favor of a mature benign multi-tissular teratoma. This is the first case described in our service. The mode of transmission of this entity appears to be autosomal dominant with low penetrance and variable expressivity, suggesting that the incidence of this syndrome is likely underestimated. With the development of techniques of medical assistance to procreation, maternity remains possible, particularly through gestational surrogacy.

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Singh, Preeti B., Roli Purwar, and Pawan Kumar. "Pure gonadal dysgenesis misdiagnosed as Mayer Rokitansky Kuster Hauser Syndrome: a case report." International Journal of Reproduction, Contraception, Obstetrics and Gynecology 9, no. 11 (2020): 4756. http://dx.doi.org/10.18203/2320-1770.ijrcog20204852.

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Gonadal dysgenesis is a group of heterogeneous disorders with very rare presentation. The spectrum of disease not only includes primary amenorrhoea but also secondary amenorrhoea. Herein, we are reporting a case of 16-year-old phenotypic female who presented with amenorrhoea with 46, XX karyotype with hypoplastic uterus with absent ovaries (on imaging), with high gonadotropins level and low estradiol. Suspecting Mayer–Rokitansky–Küster–Hauser syndrome (due to hypoplastic uterus) with gonadal dysgenesis she was started on cyclic hormones for development of secondary sexual characters and to prevent bone loss. But, during follow up, after giving estrogen for 8 months, her hypoplastic uterus again starts reappearing with attainment of cyclic menses on estrogen and progesterone withdrawal. We concluded that, in the presence of rudimentary or hypoplastic uterus, straightforward diagnosis of MRKH is to be avoided without seeing peripheral estrogenisation, hormone profile and karyotype analysis.

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Takase, Aki, Akihiro Hamuro, Megumi Ashimura, et al. "New modified laparoscopic Davydov’s method using the rudimentary uterus." International Journal of Reproduction, Contraception, Obstetrics and Gynecology 7, no. 7 (2018): 2948. http://dx.doi.org/10.18203/2320-1770.ijrcog20182913.

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Among surgical procedures of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, the laparoscopic Davydov's technique seems to offer the most feasible and effective approach for creating a neovagina. Several reports have pointed at the necessity for mobilization of the peritoneum to obtain a longer neovagina and have reported a modified laparoscopic Davydov’s method. A new method was performed for a 24- and an 18-year-old patient. The most significant method in present procedure was to leave the thickened tissue that connects both rudimentary uteruses. The advantages of present procedure are physiological, creating a longer neovagina. Furthermore, this approach may help prevent prolapse of pelvic organs by leaving the thickened tissue as a ceiling.

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Kang, Ben, So Hyun Park, Dong Hyun Kim, Byoung Ick Lee, Mi Young Kim, and Ji Eun Lee. "RETRACTION: Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome in a Child with Idiopathic Precocious Puberty." Annals of Pediatric Endocrinology & Metabolism 27, no. 3 (2022): 242. http://dx.doi.org/10.6065/apem.222012172126.r1.

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Ledig, S., S. Brucker, G. Barresi, J. Schomburg, K. Rall, and P. Wieacker. "Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome." Human Reproduction 27, no. 9 (2012): 2872–75. http://dx.doi.org/10.1093/humrep/des206.

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Bolde, Saroj Ashok, Arva Ali Pirosha, Sushma N. Ramraje, and Shubhangi V. Agale. "Histopathological spectrum of disorders of sexual development: a case series of seven cases." International Journal of Research in Medical Sciences 8, no. 6 (2020): 2303. http://dx.doi.org/10.18203/2320-6012.ijrms20202283.

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Disorders of sexual development (DSD) refer to cases in which there is a discordance among at least two of the following; genetic sex, gonadal sex, genital tract sex and phenotypic sex. DSDs are quite rare with reported incidence varying from 1 in 4,500 to 1 in 5,500. Ovotesticular disorder is amongst the rarest variety of DSD comprising only to 3-10% of all cases of DSD with only 500 cases reported till now worldwide. Frequency of MRKH syndrome is 1 in 4,500 cases and is the cause of amenorrhoea in 15% of cases of primary amenorrhoea. Authors present a case series of seven cases of DSDs with three cases diagnosed as androgen insensitivity syndrome, two cases of true ovotesticular DSD (true hermaphrodite), one case each of mixed gonadal dysgenesis and Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome. Authors received the histopathology specimen of these cases in this department which was extensively sampled to study the gonads and the other derivatives of Mullerian and Wolffian duct and to rule out presence of any malignancy.

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Paudel, Suman, Prerana Singh Rokaha, and Pankaj Kafle. "Mayer-Rokitansky-Kuster-Hauser Syndrome Type II with Fused Kidneys in Pelvic Cavity: A Case Report." Journal of Nepal Medical Association 62, no. 272 (2024): 279–81. http://dx.doi.org/10.31729/jnma.8532.

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Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) also known as Müllerian agenesis, is caused by embryologic underdevelopment of the Mullerian duct, with resultant agenesis or atresia of the vagina, uterus, or both. Patients usually present with primary amenorrhea with normal growth and pubertal development. Here we present a case of a 29-year-old woman presented with primary amenorrhea. Secondary sexual characteristics and hormone evaluation were normal. Ultrasound and MRI were conducted and revealed complete absence of uterus, small vaginal canal. Bilateral renalfossa were empty and both the kidneys were located in the pelvic cavity fused to one-another with single renal pelvis giving pancake appearance.

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Putra, Hadrians Kesuma, Amir Fauzi, Ratih Krisna, Aerul Chakra Alibasya, Aidyl Fitrisyah, and Alia Desmalia. "Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) Patients Treated with Laparoscopic Neovaginal with The Davydov Procedure with Epidural Anesthesia: A Case Report." Journal of Anesthesiology and Clinical Research 2, no. 1 (2021): 184–89. http://dx.doi.org/10.37275/jacr.v2i1.148.

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Introduction. MRKH syndrome is characterized by incomplete or absent of vaginal and uterine agenesis. Currently there are no official guidelines on the management of MRKH syndrome. This case report is about the operative management in MRKH patients by neovaginal with laparoscopic Davydov procedure. Case presentation. A 26-year-old woman admitted that she had never had a period, the patient admitted that her breasts began to grow at the age of 13, and the patient was planning to get married, and refused to take further planning. The patient then came back to the RSMH urogynecology clinic after marriage, from the examination it was found that the pubic hole was ± 0.5 cm deep, speculum examination could not be done, the uterus could not be palpable from the rectal toucher. From the ultrasound examination, it was found that both ovaries were within normal limits and suspected uterine hypoplasia. Hormone tests were within normal limits, with the following values: LH 27.01 mIU / mL, FSH 57.08 mIU / mL, Estradiol 10 pg / mL, Prolactin 5.94 ng / mL. Patients with a history of atrial septal defect (ASD) and ventricular septal defect (VSD) Conclusion. Treatment of MRKH syndrome patients is usually complex and requires multidisciplinary counseling, therapy, and management, so it is hoped that it can help patients to make a functional vagina. Further research and collaboration from various multidisciplinary make pregnancy in patients with MRKH syndrome, not impossible, along with current technological and scientific developments, the selection of surrogate mothers, and uterine transplantation is an option.

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Piriyev, Elvin, and Thomas Romer. "Rare case: enucleation of multiple fibroids after intraoperative vaginal sonographic detection of the solitary pelvic kidney by patient with Mayer-Rokitansky-Kuster-Hauser syndrome." International Journal of Reproduction, Contraception, Obstetrics and Gynecology 9, no. 9 (2020): 3873. http://dx.doi.org/10.18203/2320-1770.ijrcog20203872.

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Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is a congenital anomaly of the genital tract that occurs in about 1 in 4000 women. MRKH syndrome can be associated with renal, skeletal, heart and hearing abnormalities. The frequency of renal/urinary tract abnormalities is 33%. Only a few cases of fibroid development in MRKH syndrome have been described in the literature. The diagnosis and surgery of a fibroid in MRKH syndrome may be complicated in associated kidney abnormality by an atypical kidney position, as in this case: pelvic kidney on one side and renal agenesia on the contralateral side. Authors present the case of a 47-year-old female patient with a known MRKH syndrome and a pelvic kidney on the right side who had presented with an unclear tumour in the right lower abdomen. A completed CT scan revealed the tumour directly next to the pelvic kidney. A malignancy could not be excluded with certainty, so that a laparoscopy in laparotomy readiness was indicated and performed. During surgery, two rudimentary uterine horns were found; on the right side retroperitoneally, below the uterine horn, the tumour was located and directly below it there was a soft tissue alteration, probably the kidney. For safety, a vaginal sonography was performed in between, to clearly identify the only kidney and to avoid damaging it. The tumour could be extirpated laparoscopically without kidney injury. The two uterine horns were removed simultaneously. Histologically the fibroid could be confirmed. In addition, three other fibroids (one on the left side and two on the right side) were detected. Due to the high probability of a simultaneous kidney abnormality in the MRKH syndrome, authors suggest an accurate kidney diagnosis preoperatively. If necessary, in the case of a pelvic kidney and/or renal agenesia, as in this case, an additional intraoperative kidney check should be performed.

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Sulaiman, Siti Aishah, Nor Azian Abdul Murad, Chow Yock Ping, et al. "Whole Exome Sequencing of a Rare Disease, Mullerian Agenesis and Anorectal Anomaly: A Case Report." Jurnal Sains Kesihatan Malaysia 22, no. 2 (2024): 18–38. https://doi.org/10.17576/jskm-2024-2202-02.

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Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) Type-II is a congenital defect in the Mullerian duct that results in the absence of a uterus in women. The aetiology of this syndrome is unknown and has been considered a sporadic genetic disease. MRKH, together with anorectal anomaly, is an extremely rare condition and has only been reported in a few cases without any information on genetic analysis. This study investigated the mutational profile of a girl diagnosed with MRKH and anorectal anomalies with rectovaginal fistula. The whole exome sequencing (WES) trio-genetic analysis of a 5-year-old Malaysian girl diagnosed with MRKH (having anorectal anomaly with rectovaginal fistula) was performed together with her normal parents, using the Ion AmpliSeq Exome RDY kit (ThermoFisher Scientific, USA). Data were analysed using Torrent Suite v.5.0.4 and annotated using ANNOVAR. Single nucleotide polymorphisms (SNPs) with an allele frequency >0.01 were excluded, and the remaining variants were filtered based on de novo mutations, autosomal recessive, and autosomal recessive genetic traits. Related genes were analysed by biological pathway analysis (g:Profiler) and protein-protein interaction (HIPPIE v.2.3, STRING v.11.5, dan GeneMANIA). A total of 36 mutations were identified, and two of them, the LHX5 (p.P358Q), inherited from the father, and CFTR (p.R1158X), inherited from the mother. There were 28 de-novo mutations from 28 genes. All genes were involved in 27 biological processes that connected with 23 interactions, and are likely to cause MRKH syndrome in this patient. Key words: Rare disease; Mullerian Agenesis and Anorectal Anomaly; Exome sequencing

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Milsom, Stella Ruth, Cara Megan Ogilvie, Craig Jefferies, and Lynsey Cree. "Discordant Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome in identical twins – a case report and implications for reproduction in MRKH women." Gynecological Endocrinology 31, no. 9 (2015): 684–87. http://dx.doi.org/10.3109/09513590.2015.1032928.

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Ghaffari, Firouzeh, Fatemeh Keikha, and Arezoo Arabipoor. "A Rare Case of Primary Amenorrhea with Two Etiologies, Hypothalamic Amenorrhea, Transverse Vaginal Septum, and No Hematocolpos." Case Reports in Obstetrics and Gynecology 2015 (2015): 1–3. http://dx.doi.org/10.1155/2015/989123.

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Abstract:

We reported a rare case of hypothalamic amenorrhea and transverse vaginal septum. A 28-year-old woman presented with primary amenorrhea and no complaint of abdominal pain. Laparoscopy revealed a small rudimentary uterus with streak ovaries and a vaginal pouch. The patient with diagnosis of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome was subjected to a vaginoplasty in another fertility center. In our institute, after two courses of estrogen and progesterone, sonography revealed hematocolpos, while, under anesthesia, transverse vaginal septum was resected. Hysteroscopy revealed normal uterine cavity. She became pregnant 5 months postoperatively with controlled ovarian stimulation (COS) in conjunction with intrauterine insemination, and she has two healthy babies now. This case highlights the importance of careful evaluation of all primary amenorrheas. Clinicians should be aware of presence of more than one etiology which causes atypical presentations and accomplishes a systematic strategy for the evaluation of amenorrhea potential to avoid long-term side effects of a misdiagnosis.

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Bernardini, Laura, Stefania Gimelli, Cristina Gervasini, et al. "Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports." Orphanet Journal of Rare Diseases 4, no. 1 (2009): 25. http://dx.doi.org/10.1186/1750-1172-4-25.

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Kresie, Elizabeth, Ashli Lawson, Holly Welsh, and Julie Strickland. "43. Discordant Mayer-Rokitansky-Kuster-Hauser (MRKH) & VACTERL Syndrome in Monochorionic Monoamniotic Twins with Primary Amenorrhea." Journal of Pediatric and Adolescent Gynecology 33, no. 2 (2020): 196. http://dx.doi.org/10.1016/j.jpag.2020.01.117.

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Doyle, Joseph O., and Marc R. Laufer. "Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome with a Single Septate Uterus: A Novel Anomaly with Treatment Options." Journal of Pediatric and Adolescent Gynecology 21, no. 2 (2008): 98. http://dx.doi.org/10.1016/j.jpag.2008.01.063.

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