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Journal articles on the topic 'MRKH syndrom'

Author: Grafiati
Published: 4 June 2021
Last updated: 16 February 2022

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1

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 (October 30, 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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2

Meng, Tian, Ming Bai, and Ru Zhao. "Congenital Malformations of the Reproductive Tract in a Patient with Poland Syndrome: Is There a Connection." Breast Care 12, no. 5 (2017): 340–43. http://dx.doi.org/10.1159/000478086.

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Background: Poland syndrome and Müllerian duct agenesis (Mayer-Rokitansky-Küster-Hauser(MRKH)-like syndrome) are two rare congenital anomalies with unclear etiology. Case Report: An 18-year-old female presented with hypoplasia of the left pectoralis muscles and subcutaneous tissue, hypoplasia of the left breast and nipple, and dextrocardia, typical in those with a severe form of Poland syndrome. She also showed aplasia of the vagina and uterus, bilateral ovarian agenesis, and hyperandrogenism, presenting as MRKH-like syndrome. Conclusion: It is plausible to assume that these two congenital anomalies which arose from distant sites may be interrelated. More cases and further studies will certainly help delineate the pathogenesis of these syndromes.
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3

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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4

Daniel, Guerrier, and Morcel Karine. "Partial SHOX duplications associated with various cases of congenital uterovaginal aplasia (MRKH syndrome): A tangible evidence but a puzzling mechanism." Journal of Genetic Medicine and Gene Therapy 4, no. 1 (March 24, 2021): 001–8. http://dx.doi.org/10.29328/journal.jgmgt.1001006.

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The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the most severe form of congenital malformation of the inner female reproductive tract. It is diagnosed as such when the uterus, the upper vagina and optionally the Fallopian tubes are absent. It accounts for approximately 1 in 5000 live-born females and has been classified in two subtypes: type 1 in the presence of isolated uterovaginal aplasia and type 2 when associated in various combinations with extragenital malformations of the kidneys, skeleton, heart and auditory system. Most cases of MRKH syndrome are sporadic, although a significant number of many familial cases have been reported to date. Despite numerous studies, the genetics of the syndrome remains largely unknown and appears to be heterogeneous: chromosomal abnormalities and some candidate gene variants appear to be associated with a few cases; others have been suggested but not yet confirmed. To date, mainly the GREB1L gene appears to be a serious candidate. Among the remaining hypotheses, the controversial contribution of partial duplications of the SHOX gene is still puzzling, as the deficiency of this gene is a major cause of skeletal adysplasia syndromes. We have attempted to resolve this controversy in a study of 60 MRKH cases. Our results tend to show that SHOX duplications can be the origin of a genetic mechanism responsible for MRKH syndrome.
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5

Khan, Washim F., Yashwant S. Rathore, Manjunath M. Pol, and Gurpremjit Singh. "Inguinal hernia with ovary as content- laparoscopic repair in a Mayer–Rokitansky–Küster–Hauser syndrome patient: case report." International Surgery Journal 6, no. 4 (March 26, 2019): 1421. http://dx.doi.org/10.18203/2349-2902.isj20191293.

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Inguinal hernia is a common surgical disease. Ovary and fallopian tube are not frequently found as content of the hernia. A 18 year old female, diagnosed case of Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome, presented with left sided reducible inguinal hernia for six months. Ultrasonography revealed absence of intra-abdominal left ovary and presence of ovary in the sac. She was planned for laparoscopic repair and total extra-peritoneal repair (TEP) was done. Ovary and adnexa may be content in groin hernia in females. Association of syndromes especially MRKH syndrome should be kept in mind in this group of patients. Laparoscopic total extra-peritoneal repair may be successfully attempted in this group of patients.
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6

Akhter, Nasreen, and Badrunnesa Begum. "Evaluation and management of cases of primary amenorrhoea with MRKH syndrome." Bangladesh Medical Journal Khulna 45, no. 1-2 (February 3, 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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7

Krisna, Ratih, and Rizky Agustria. "Laparoscopic Davydov Procedure for Creation of Neovagina in MRKH Syndrome." Bioscientia Medicina : Journal of Biomedicine and Translational Research 5, no. 3 (May 18, 2021): 809–13. http://dx.doi.org/10.32539/bsm.v5i3.348.

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Introduction: The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a condition in which there is an absence of the uterus and the upper part (2/3) of the vagina. Women with MRKH syndrome show normal development of secondary sexual characteristics and a normal 46, XX karyotype. MRKH syndrome is a common cause of primary amenorrhea. Ultrasonography examination confirms kidneys, presence of the ovaries, and absence of uterus. Treatment should include a multidisciplinary approach to create a functional vagina. One of the procedures is laparoscopic Davydov vaginoplasty. Aim: To report MRKH syndrome case treated with laparoscopic Davydov vaginoplasty. Method: Ms. A, 21 years old, P0A0, came to FER clinic Moh. Hoesin Hospital Palembang with complaint, never had menstruation, the patient admitted her breast, and her pubic had growth. She wants to get married in the next six months. From the US result, there was non visualized uterus, genital band (+), and both ovaries within normal limit ~ MRKH Syndrome. Karyotype Examination: 46, XX. Patient was diagnosed with primary amenorrhea caused by MRKH syndrome and was planned for neovagina (Davydov Procedure). Result: A woman 21-year-old, P0A0, was diagnosed with primary amenorrhea caused by MRKH syndrome. The Davydov procedure was done to create a neovagina. Intraoperative, after protrusion of the wood mold as a marker shown, an incision is made to the left and right side so that the mold penetrates the abdominal cavity, then the mold is pulled into the vaginal canal slowly. The anterior and posterior peritoneal layers are drawn into the vaginal canal. The anterior and posterior peritoneal layers were withdrawn with an ovum clamp and then interrupted suture. The anterior and posterior peritoneal layers were sutured in a circular method to form a vaginal cuff. The vaginal wall is sutured (interrupted) to hold mold fixed. Conclusion: MRKH syndrome is a disorder that occurs in females and mainly affects the reproductive system. This condition causes the vagina and the uterus to be underdeveloped or even absent at birth. Patients with diagnosed MRKH syndrome require interdisciplinary care. Davydov procedure is a laparoscopically-assisted technique, which has an advantage over traditional approaches. It has shorter operating time, lower intraoperative complications, shorter hospital stay, and no external scars. Postoperatively, sexual function is similar to women without gynecological disorders.
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8

Oppelt, Patricia G., Andreas Müller, Liana Stephan, Ralf Dittrich, Johannes Lermann, Christian Büttner, Arif B. Ekici, et al. "Hyperandrogenemia and high prolactin in congenital utero–vaginal aplasia patients." Reproduction 153, no. 5 (May 2017): 555–63. http://dx.doi.org/10.1530/rep-16-0408.

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Patients with the Mayer–Rokitansky–Küster–Hauser syndrome (MRKH) have a congenital utero–vaginal cervical aplasia, but normal or hypoplastic adnexa and develop with normal female phenotype. Some reports mostly demonstrated regular steroid hormone levels in small MRKH cohorts including single MRKH patients with hyperandrogenemia and a clinical presentationof hirsutism and acne has also been shown. Genetically a correlation of WNT4 mutations with singular MRKH patients and hyperandrogenemia was noted. This study analyzed the hormone status of 215 MRKH patients by determining the levels of luteinizing hormone (LH), follicle-stimulating hormone (FSH), estradiol, 17-OH progesterone, testosterone, dehydroepiandrosterone sulfate (DHEAS), sex hormone–binding globulin (SHBG) and prolactin to determine the incidence of hyperandrogenemia and hyperprolactinemia in MRKH patients. Additional calculations and a ratio of free androgen index and biologically active testosterone revealed a hyperandrogenemia rate of 48.3%, hyperprolactinemia of 9.8% and combined hyperandrogenemia and hyperprolactinemia of 4.2% in MRKH patients. The rates of hirsutism, acne and especially polycystic ovary syndrome (PCOS) were in the normal range of the population and showed no correlation with hyperandrogenemia. A weekly hormone assessment over 30 days comparing 5 controls and 7 MRKH patients revealed high androgen and prolactin, but lower LH/FSH and SHBG levels with MRKH patients. The sequencing of WNT4, WNT5A, WNT7A and WNT9B demonstrated no significant mutations correlating with hyperandrogenemia. Taken together, this study shows that over 52% of MRKH patients have hyperandrogenemia without clinical presentation and 14% hyperprolactinemia, which appeals for general hormone assessment and adjustments of MRKH patients.
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9

Adamiak-Godlewska, Aneta, Katarzyna Skorupska, Tomasz Rechberger, Katarzyna Romanek-Piva, and Paweł Miotła. "Urogynecological and Sexual Functions after Vecchietti Reconstructive Surgery." BioMed Research International 2019 (February 25, 2019): 1–4. http://dx.doi.org/10.1155/2019/2360185.

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Hypothesis/Aims of Study. Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is the second most common cause of primary amenorrhea. The ESHRE/ESGE categorizes this disorder within the class 5 uterine malformation of the female genital tract anomalies. It is characterized by congenital absence of the uterus, cervix, and upper part of the vagina in otherwise phenotypically normal 46XX females. These patients have normal ovaries, biphasic ovarian cycle, and female psychosexual identification. Laparoscopic Vecchietti’s operation—surgical method in which the vagina increases in size by gradually applying traction to the vaginal vault—is one of the methods used to treat MRKH. The aim of this study was to establish the urogynecological and sexual functions after Vecchietti’s operation. Study Design, Materials and Methods. Fifteen patients with MRKHS who underwent laparoscopic Vecchietti’s operation were included. A control group of 15 age-matched, childless, sexually active women were examined during the same period. All patients underwent the basic evaluation of anatomical outcomes. Sexual outcomes were established by the Polish validated Female Sexual Function Index (FSFI) questionnaire. Continence status was assessed by Polish validated Urinary Distress Inventory (UDI-6) and the Incontinence Impact Questionnaire (IIQ-7). Results. Mean age of MRKH group was 22.06±5.13 yrs. Mean follow-up after surgery was 8.02±3.43 yrs. Mean age of women from control group was 22.4±4.35. Mean FSFI scores show good quality of sexual life in both groups. UDI-6 scores showed that patients after Vecchietti surgery have urogynecological problems significantly more often than healthy women do. Based on the IIQ-7, it is evident that one patient from the MRKH group (6,6%) suffers from stress urinary incontinence and the rest (20%) have rather irritative problems with the functioning of the lower urinary tract. Conclusion. Quality of sexual life after the Vecchietti’s operation in long-term follow-up does not differ from that of healthy women, but these patients suffer more frequent from urogynecological complaints. The trial is registered with NCT03809819.
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10

Tavera, Gloria, and Rina Lazebnik. "Müllerian Agenesis Masquerading as Secondary Amenorrhea." Case Reports in Pediatrics 2018 (July 19, 2018): 1–3. http://dx.doi.org/10.1155/2018/6912351.

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The most common cause of primary amenorrhea is congenital malformation of the Müllerian ducts, including Müllerian agenesis, also known as Mayer–Rokitansky–Küster–Hauser syndrome (MRKH). Most general gynecologists and primary care physicians who see female adolescents will encounter MRKH in their careers. We present the case of an adolescent with MRKH who reported secondary, instead of primary amenorrhea. We discuss the subtleties of diagnosing MRKH, especially when patient history may not always be accurate. Because MRKH had not been included in the differential diagnosis for delayed menses, this patient was initially misdiagnosed. Delayed diagnosis of MRKH may harm patients by delaying assessment of concomitant renal, skeletal, hearing, and cardiac defects, which might otherwise impact the treatment plan.
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11

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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12

Pontecorvi, Paola, Francesca Megiorni, Simona Camero, Simona Ceccarelli, Laura Bernardini, Anna Capalbo, Eleni Anastasiadou, et al. "Altered Expression of Candidate Genes in Mayer–Rokitansky–Küster–Hauser Syndrome May Influence Vaginal Keratinocytes Biology: A Focus on Protein Kinase X." Biology 10, no. 6 (May 21, 2021): 450. http://dx.doi.org/10.3390/biology10060450.

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Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a rare and complex disease defined by congenital aplasia of the vagina and uterus in 46,XX women, often associated with kidney and urinary tract anomalies. The aetiopathogenesis of MRKH syndrome is still largely unknown. Herein, we investigated the role of selected candidate genes in the aetiopathogenesis of MRKH syndrome, with a focus on PRKX, which encodes for protein kinase X. Through RT-qPCR analyses performed on vaginal dimple samples from patients, and principal component analysis (PCA), we highlighted a phenotype-related expression pattern of PRKX, MUC1, HOXC8 and GREB1L in MRKH patients. By using an in vitro approach, we proved that PRKX ectopic overexpression in a cell model of vaginal keratinocytes promotes cell motility through epithelial-to-mesenchymal transition (EMT) activation, a fundamental process in urogenital tract morphogenesis. Moreover, our findings showed that PRKX upregulation in vaginal keratinocytes is able to affect transcriptional levels of HOX genes, implicated in urinary and genital tract development. Our study identified the dysregulation of PRKX expression as a possible molecular cause for MRKH syndrome. Moreover, we propose the specific role of PRKX in vaginal keratinocyte biology as one of the possible mechanisms underlying this complex disease.
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13

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 (August 27, 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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14

Miao, Yali, Jirui Wen, Liwei Huang, Jiang Wu, and Zhiwei Zhao. "Diagnosis and Management of Ovarian Tumor in Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome." BioMed Research International 2018 (2018): 1–6. http://dx.doi.org/10.1155/2018/2369430.

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In the most recent publications on Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, the uterine remnants and ovaries in patients may develop uterine remnant leiomyoma, adenomyosis, or ovarian tumor, and this can lead to problems in differential diagnosis. Here we summarize the diagnosis methods and available interventions for ovarian tumor in MRKH syndrome, with emphasis on the relevant clinical findings and illustrative relevant case. According to the clinical findings and illustrative relevant case, with the help of imaging techniques, ovarian tumors can be detected in the pelvis in patients with MRKH syndrome and evaluated in terms of size. Laparoscopy could further differentiate ovarian tumors into different pathological types. In addition, laparoscopic surgery not only is helpful for the diagnosis of MRKH combined ovarian tumor, but also has a good treatment role for excising ovarian tumor at the same time. Moreover, laparoscopic removals of ovarian tumor can be considered as a safe and reliable treatment for conservative management.
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15

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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16

Heller-Boersma, Jacoline G., D. Keith Edmonds, and Ulrike H. Schmidt. "A Cognitive Behavioural Model and Therapy for Utero-Vaginal Agenesis (Mayer-Rokitansky-Küster-Hauser Syndrome: MRKH)." Behavioural and Cognitive Psychotherapy 37, no. 4 (June 10, 2009): 449–67. http://dx.doi.org/10.1017/s1352465809990051.

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Background: Utero-vaginal agenesis, also called the Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH), is a congenital abnormality of the female genital tract, characterized by the non-formation of the vagina and the uterus. It is a common cause of primary amenorrhoea. Little is known about the psychological impact and management of this condition. Method: We describe a specific model of the core negative psychological impact of diagnosis and medical treatment of MRKH and a cognitive-behavioural therapy of MRKH based on the model (CBT-MRKH). The Medical Research Council's (2002) framework for the development and evaluation of complex health interventions was used for intervention development and evaluation. Results: Evidence from a recent cross-sectional study and a small randomized controlled trial (RCT) provides preliminary support for the model and treatment (Heller-Boersma, Schmidt and Edmonds, in press; Heller-Boersma, Schmidt and Edmonds, 2007), and this is further validated by extensive qualitative material gathered over the course of the RCT from participants. Conclusions: The model and treatment described may also be applicable to a number of other congenital or acquired gynaecological conditions such as premature ovarian failure, breast cancer, early onset endometrial cancer, female genital mutilation, Turner's Syndrome, ovarian dys/agenesis or, Complete Androgen Insensitivity Syndrome, all of which have a psychological impact not dissimilar to MRKH in terms of these women's sense of self and femininity.
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17

Herlin, Morten K., Vang Q. Le, Allan T. Højland, Anja Ernst, Henrik Okkels, Astrid C. Petersen, Michael B. Petersen, and Inge S. Pedersen. "Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome. A case report." Human Reproduction 34, no. 9 (August 19, 2019): 1838–46. http://dx.doi.org/10.1093/humrep/dez126.

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Abstract The aetiology of Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome, characterized by uterovaginal agenesis in 46,XX women, remains poorly understood. Since familial occurrences are rare, genetic findings reported so far only apply to a minority of mainly sporadic cases and most studies have not included other family members enabling segregation analysis. Herein, we report on the investigation of a unique three-generation family of two female cousins with MRKH syndrome and unilateral renal agenesis (RA) and two deceased male relatives with RA. We performed whole-exome sequencing (WES) in eight family members leading to the identification of a novel pathogenic (CADD = 33) c.705G>T missense variant in GREB1L, a gene recently identified as a novel cause of RA. Previous reports include several cases of female fetuses with bilateral RA and uterus agenesis, which support GREB1L as an important gene in both kidney and female genital tract development. The pedigree is compatible with autosomal dominant inheritance with incomplete penetrance following a parent-origin-specific manner, which could be due to imprinting. To our knowledge, this is the first investigation of a larger MRKH syndrome pedigree using WES, and we suggest GREB1L as a novel and promising candidate gene in the aetiology of MRKH syndrome.
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18

Weijenborg, P. T. M., K. B. Kluivers, A. B. Dessens, M. J. Kate-Booij, and S. Both. "Sexual functioning, sexual esteem, genital self-image and psychological and relational functioning in women with Mayer–Rokitansky–Küster–Hauser syndrome: a case–control study." Human Reproduction 34, no. 9 (August 16, 2019): 1661–73. http://dx.doi.org/10.1093/humrep/dez130.

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Abstract STUDY QUESTION Do sexual functioning, sexual esteem, genital self-image and psychological and relational functioning in women with Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome differ from a comparison group of women without the condition? SUMMARY ANSWER In comparison to controls, women with MRKH with a non-surgically or surgically created neovagina did not differ in psychological and relational functioning but reported lower sexual esteem and more negative genital self-image, intercourse-related pain, clinically relevant sexual distress and sexual dysfunction, with sexual esteem levels strongly associated with sexual distress and sexual dysfunction. WHAT IS KNOWN ALREADY Studies on sexual functioning measured with standardized questionnaires in women with MRKH syndrome compared with women without the condition have yielded contradictory results. Factors associated with sexual functioning in this patient population have rarely been investigated. STUDY DESIGN, SIZE, DURATION Between November 2015 and May 2017, 54 women with MRKH syndrome with a neovagina and 79 age-matched healthy women without the condition were enrolled in this case–control study. PARTICIPANTS/MATERIALS, SETTING, METHODS All participants had to be at least 18-years old and had to live in a steady heterosexual relationship. Women with MRKH syndrome were asked to participate by their (former) gynecologists at three university hospitals and by MRKH peer support group. Controls were recruited via advertisement in local newspapers and social media. Standardized questionnaires were administered to assess sexual functioning, sexual esteem, genital self-image and psychological and relational functioning. MAIN RESULTS AND THE ROLE OF CHANCE Women with MRKH syndrome with a surgically or non-surgically created neovagina reported significantly more pain during intercourse (P < 0.05, d = 0.5), but did not differ in overall sexual functioning from control women. More women with MRKH syndrome reported clinically relevant sexuality-related distress (P < 0.05, odds ratio (OR): 2.756, 95% CI 1.219–6.232) and suffered a sexual dysfunction (P < 0.05, OR: 2.654, 95% CI: 1.088–6.471) in comparison with controls. MRKH women scored significantly lower on the sexual esteem scale (SES) (P < 0.01, d = 0.5) and the female genital self-image scale (FGSIS) (P < 0.01, d = 0.6) than controls. No significant differences were found between the two groups regarding psychological distress, anxiety and depression, global self-esteem and relational dissatisfaction. Sexual esteem was significantly associated with the presence of clinically relevant sexual distress (ß = 0.455, P = 0.001) and suffering a sexual dysfunction (ß = 0.554, P = 0.001) and explained, respectively, 40% and 28% of the variance. LIMITATIONS, REASONS FOR CAUTION Given the nature of the study focusing on sexual functioning, a potential selection bias cannot be excluded. It is possible that those women with the most severe sexual and/or psychological disturbances did or did not choose to participate in our study. WIDER IMPLICATIONS OF THE FINDINGS The study results add new data to the very limited knowledge about psychosexual functioning of women with MRKH syndrome and are of importance for more adequate counseling and treatment of these women. STUDY FUNDING/COMPETING INTEREST(S) The research was financially supported by the Dutch Scientific Society of Sexology (Nederlandse wetenschappelijke Vereniging Voor Seksuologie). The funding was unrestricted, and there was no involvement in the conduct of the research. There are no conflicts of interest to declare.
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Coelingh Bennink, Herjan J. T., Jan F. M. Egberts, Jan A. Mol, Kit C. B. Roes, and Paul J. van Diest. "Breast Cancer and Major Deviations of Genetic and Gender-related Structures and Function." Journal of Clinical Endocrinology & Metabolism 105, no. 9 (June 28, 2020): e3065-e3074. http://dx.doi.org/10.1210/clinem/dgaa404.

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Abstract We have searched the literature for information on the risk of breast cancer (BC) in relation to gender, breast development, and gonadal function in the following 8 populations: 1) females with the Turner syndrome (45, XO); 2) females and males with congenital hypogonadotropic hypogonadism and the Kallmann syndrome; 3) pure gonadal dysgenesis (PGD) in genotypic and phenotypic females and genotypic males (Swyer syndrome); 4) males with the Klinefelter syndrome (47, XXY); 5) male-to-female transgender individuals; 6) female-to-male transgender individuals; 7) genotypic males, but phenotypic females with the complete androgen insensitivity syndrome, and 8) females with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (müllerian agenesis). Based on this search, we have drawn 3 major conclusions. First, the presence of a Y chromosome protects against the development of BC, even when female-size breasts and female-level estrogens are present. Second, without menstrual cycles, BC hardly occurs with an incidence comparable to males. There is a strong correlation between the lifetime number of menstrual cycles and the risk of BC. In our populations the BC risk in genetic females not exposed to progesterone (P4) is very low and comparable to males. Third, BC has been reported only once in genetic females with MRKH syndrome who have normal breasts and ovulating ovaries with normal levels of estrogens and P4. We hypothesize that the oncogenic glycoprotein WNT family member 4 is the link between the genetic cause of MRKH and the absence of BC women with MRKH syndrome.
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Kawano, Yasushi, Tomoko Hirakawa, Masakazu Nishida, Akitoshi Yuge, Mitsutake Yano, Kaei Nasu, and Hisashi Narahara. "Functioning Endometrium and Endometrioma in a Patient with Mayer-Rokitanski-Kuster-Hauser Syndrome." Japanese Clinical Medicine 5 (January 2014): JCM.S12611. http://dx.doi.org/10.4137/jcm.s12611.

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Mayer-Rokitanski-Kuster-Hauser (MRKH) syndrome is a rare disease. A 27-year-old woman was admitted for primary amenorrhea and cyclic pelvic pain. Magnetic resonance imaging (MRI) revealed bilateral Müllerian remnants with functioning endometrium and a pelvic mass considered to be an endometriotic cyst. Bilateral Müllerian remnants were removed, and right ovarian cystectomy was performed at laparoscopic surgery. Accurate evaluation before the operation and informed consent are necessary to treat patients with MRKH syndrome.
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Jain, Nidhi, and Jyotsna Harlalka Kamra. "MRKH syndrome: a review of literature." International Journal of Reproduction, Contraception, Obstetrics and Gynecology 7, no. 12 (November 26, 2018): 5219. http://dx.doi.org/10.18203/2320-1770.ijrcog20184999.

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Primary amenorrhea is defined as failure to achieve menarche till age of 14 years in absence of normal secondary sexual characters or till 16 years irrespective of secondary sexual characters. The most common cause of primary amenorrhea is gonadal pathology followed by Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome). MRKH syndrome is a rare congenital disorder characterised by uterine and vaginal aplasia. It occurs due to failure of development of Müllerian duct. Its incidence is 1 per 4500 female births. Mostly girls present with primary amenorrhea. It is characterised by presence of normal secondary sexual characteristics, normal 46 XX genotype, normal ovarian function in most of the cases and absent or underdeveloped uterus and upper part (2/3) of vagina. It is of two types: type A is isolated type while type B is associated with other renal/skeletal/cardiac anomalies. Treatment includes psychological counselling and vaginoplasty. Vaginoplasty can be done by various non-surgical and surgical techniques. The authors hereby review the literature of MRKH syndrome regarding its embryology, etiopathogenesis, approach to work up and management.
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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 (May 16, 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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Rani, G. Usha, O. Syamala, A. Dilshath Meera, and HN Rukshana. "Adenomyosis in a Rudimentary Horn of a Mayer-Rokitansky-Küster-Hauser Syndrome." Journal of SAFOMS 2, no. 2 (2014): 102–4. http://dx.doi.org/10.5005/jp-journals-10032-1055.

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ABSTRACT The prevalence of congenital uterine malformations is about 0.5%. In Mayer-Rokitansky-Küster-Hauser syndrome (MRKH), patients usually present with primary amenorrhea. Here, we report a case of adenomyosis in a rudimentary horn in a 37-yearold woman with MRKH syndrome who had cyclical abdominal pain with increasing frequencies since her 24th year. This case is an evidence for adenomyotic lesions in the myometrium of Müllerian remnant with no functioning endometrium. How to cite this article Meera AD, Rani GU, Syamala O, Rukshana HN. Adenomyosis in a Rudimentary Horn of a Mayer-Rokitansky-Küster-Hauser Syndrome. J South Asian Feder Menopause Soc 2014;2(2):102-104.
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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 (June 1, 2017): 38–39. http://dx.doi.org/10.24041/ejmr2017.7.

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25

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 (February 7, 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 (October 26, 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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K A, Yelikar, Yelikar A D, Deshpande S S, Wakpanjar J P, and Pagare S. "MRKH SYNDROME: KEY ROLE OF COUNSELING." Journal of Evolution of Medical and Dental Sciences 3, no. 23 (June 9, 2014): 6516–20. http://dx.doi.org/10.14260/jemds/2014/2775.

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28

Morcel, Karine, Laure Camborieux, and Daniel Guerrier. "Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome." Orphanet Journal of Rare Diseases 2, no. 1 (2007): 13. http://dx.doi.org/10.1186/1750-1172-2-13.

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Tugues, Mireia, Bernardo Nuñez, and Raquel Corripio. "Vaginal bleeding in a misdiagnosed Mayer-Rokitansky-Küster-Hauser syndrome." BMJ Case Reports 14, no. 4 (April 2021): e241387. http://dx.doi.org/10.1136/bcr-2020-241387.

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The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, a spectrum of anomalies arising from incomplete development of the Müllerian ducts, is characterised by congenital aplasia of the uterus and upper part of the vagina, often in the absence of other phenotypical abnormalities. We report the case of a 13-year-old girl referred to our endocrinology unit after an incidental finding of uterine agenesis during laparoscopy to correct suspected ovarian torsion. Initial transabdominal ultrasonography found no uterus. Given her normal secondary sex characteristics, karyotype and hormone profile, MRKH syndrome was initially diagnosed. However, after vaginal bleeding compatible with menstruation, repeat transabdominal ultrasonography and MRI revealed a left-deviated unicornuate uterus.
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30

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 (July 26, 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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Asaturova, A. V., N. M. Faizullina, M. V. Bobkova, A. S. Arakelyan, A. V. Tregubova, T. Yu Smolnova, and L. V. Adamyan. "Morphological features and the functional state of connective tissue of the uterine rudiments in reproductive age patients with Mayer–Rokitansky–Küster–Hauser syndrome." CLINICAL AND EXPERIMENTAL MORPHOLOGY 9, no. 4 (2020): 24–30. http://dx.doi.org/10.31088/cem2020.9.4.24-30.

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Introduction. Female patients with Mayer–Rokitansky–Küster–Hauser syndrome (MRKH) have high stigma scores; the condition severely affects the reproductive system. The study aimed at specification of morphological features and assessment of the maturity of connective tissues of the uterine rudiments in MRKH. Patients and methods. The study included 42 patients with vaginal and uterine aplasia having functioning uterine rudiments and 47 patients of the control group without genital malformations. Age of the patients was 20-24 years in 67.2% of the cases, and 31.2% of the patients were aged ≤ 19, inclusive. Immunohistochemi-cal assay was applied to determine expression levels of collagen I, collagen III, ММР2, ММР9, TIMP1, fibronectin and laminin proteins within the functioning uterine rudiments in comparison with levels of the same proteins in normally developed uterine tissues. Results. Decreased expression of collagen type I and elevated levels of MMP2 and MMP9 proteins in uterine tissues were observed for the group of patients with MRKH. Conclusions. 1) Uterine rudiments in patients with MRKH show variable degree of morphological similarity with the normally developed uterus; 2) The functioning uterine rudiments are subject to the same pathological processes as the normally developed uterus (myoma, endometriosis). 3) The functioning uterine rudiments in patients with MRKH show altered patterns of connective tissue remodeling, with decreased expression of collagen type I and increased expression of matrix metalloproteinases MMP2 and MMP9. Keywords: Müllerian aplasia, uterine rudiments, metalloproteinases, connective tissue remodeling, ММР2, ММР9
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Asaturova, A. V., N. M. Faizullina, M. V. Bobkova, A. S. Arakelyan, A. V. Tregubova, T. Yu Smolnova, and L. V. Adamyan. "Morphological features and the functional state of connective tissue of the uterine rudiments in reproductive age patients with Mayer–Rokitansky–Küster–Hauser syndrome." CLINICAL AND EXPERIMENTAL MORPHOLOGY 9, no. 4 (2020): 24–30. http://dx.doi.org/10.31088/cem2020.9.4.24-30.

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Introduction. Female patients with Mayer–Rokitansky–Küster–Hauser syndrome (MRKH) have high stigma scores; the condition severely affects the reproductive system. The study aimed at specification of morphological features and assessment of the maturity of connective tissues of the uterine rudiments in MRKH. Patients and methods. The study included 42 patients with vaginal and uterine aplasia having functioning uterine rudiments and 47 patients of the control group without genital malformations. Age of the patients was 20-24 years in 67.2% of the cases, and 31.2% of the patients were aged ≤ 19, inclusive. Immunohistochemi-cal assay was applied to determine expression levels of collagen I, collagen III, ММР2, ММР9, TIMP1, fibronectin and laminin proteins within the functioning uterine rudiments in comparison with levels of the same proteins in normally developed uterine tissues. Results. Decreased expression of collagen type I and elevated levels of MMP2 and MMP9 proteins in uterine tissues were observed for the group of patients with MRKH. Conclusions. 1) Uterine rudiments in patients with MRKH show variable degree of morphological similarity with the normally developed uterus; 2) The functioning uterine rudiments are subject to the same pathological processes as the normally developed uterus (myoma, endometriosis). 3) The functioning uterine rudiments in patients with MRKH show altered patterns of connective tissue remodeling, with decreased expression of collagen type I and increased expression of matrix metalloproteinases MMP2 and MMP9. Keywords: Müllerian aplasia, uterine rudiments, metalloproteinases, connective tissue remodeling, ММР2, ММР9
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33

Deng, Shan, Lan Zhu, and Qinjie Tian. "Evaluation and Management of Unexpected Functional Rudimentary Uteri in Mayer–Rokitansky–Küster–Hauser Syndrome of Chinese Women." BioMed Research International 2020 (November 24, 2020): 1–7. http://dx.doi.org/10.1155/2020/6808409.

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Objective. To elucidate the characteristics of symptomatic attack of rudimentary uteri in MRKH syndrome and highlight the rare and unexpected possibilities. Methods. A cohort of 202 Chinese MRKH syndrome patients admitted to the Peking Union Medical College Hospital from Jan 2009 to Dec 2016 was analyzed retrospectively. Based on the symptoms of abdominal pain before vaginoplasty, the patients were categorized into the asymptomatic and symptomatic groups. Results. Totally, 21 patients had their uteri removed due to obstructive bleeding, 19 of them had symptoms of abdominal pain before vaginoplasty, the mean duration of abdominal pain before artificial vaginoplasty was 5.0 years (range, 0.5–10 years), and the mean age at first onset of recurrent abdominal pain was 14.3 years old (range 11–18). Two special cases showed unusual long incubation periods up to 23 years. Ultrasound detected endometrioid echo in four asymptomatic patients. Among the symptomatic group, 7 patients had no imaging evidence for endometrial cavities despite clinical pain. Two of them developed severe symptoms over the next two or four years and eventually had their uteri removed. Two patients reported persistent abdominal pain with a visual analog scale (VAS) score of 4–5, still under observation. Three patients were lost to follow-up. Conclusion. More than 10% of the patients with MRKH syndrome had surgical indication to remove the rudimentary uteri. The discrepancy between clinical symptoms and imaging calls for the vigilance for prophylactic surgery or prolonged follow-up.
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Troncon, Júlia Kefalás, Ana Carolina Tagliatti Zani, Andrea Duarte Damasceno Vieira, Omero Benedicto Poli-Neto, Antônio Alberto Nogueira, and Júlio César Rosa-e-Silva. "Endometriosis in a Patient with Mayer-Rokitansky-Küster-Hauser Syndrome." Case Reports in Obstetrics and Gynecology 2014 (2014): 1–4. http://dx.doi.org/10.1155/2014/376231.

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Objective. To report a case of Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) in which there were two nonfunctional rudimentary uteruses with the presence of ovarian endometrioma, corroborating that there are valid alternative theories to the existence of endometriosis, rather than Sampson’s theory alone, such as the coelomic metaplasia theory.Design. A case report.Setting. A tertiary referral center, which is also a university hospital.Patient. A fifteen-year-old patient with MRKH syndrome and endometriosis.Intervention. Laparoscopic approach for diagnostic confirmation and treatment of the endometrioma.Results. Evidence of endometriosis in a patient with no functional uterus.Conclusions. This case report and a few others that are available in the literature reinforce the possibility that coelomic metaplasia could be the origin of endometriosis. Patients with müllerian agenesis and pelvic pain should be carefully evaluated, and the presence of pelvic endometriosis should not be excluded.
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Bobkova, M. V., A. S. Arakelyan, I. F. Kozachenko, E. L. Yarotskaya, and L. V. Adamyan. "UTERUS AND VAGINAL APLASIA AND PELVIC KIDNEY - MANAGEMENT AND SURGICAL POSSIBILITY IN CONGENITAL ANOMALY CORRECTION." Medical Journal of the Russian Federation 24, no. 4 (August 15, 2018): 220–24. http://dx.doi.org/10.18821/0869-2106-2018-24-4-220-224.

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Objective. To clarify the possibilities and peculiarities of neovagival creation among the patients with MRKX syndrome and pelvic kidney. Subject and methods. Examination and surgical treatment were conducted in 3 patients with MRKX syndrome and pelvic kidney, including total laparoscopic colpopoiesis in 2 patients. Results. After surgical correction of vaginal and uterus aplasia in patiets with MRKX syndrome and pelvic kidney neovagina were created. In one patients neovagina were restore after previous surgery by vaginal approach because of extensive adhesions and high risk of laparoscopic surgery. In 2 patients - total laparoscopic colpopoiesis were perform without complications. Conclusion. Our clinical observations of surgical treatment in patients with MRKX syndrome and pelvic kidney shows possible surgical approaches of neovaginal creation depending of previous surgery and pelvic kidney localization, established during laparoscopy. Improvement of endoscopic technique and new modifications of neovaginal construction let us to increase the indications and possibilities of neovaginoplasty in patients with MRKX syndrome and pelvic kidney.
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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 (May 26, 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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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 (June 9, 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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38

G, Lalitha Kumari, Panil Kumar B E, Ramanappa M V, Sreedhar Reddy B, and Madhu Madhava Reddy. "ROLE OF MRI IN EVALUATION OF MRKH SYNDROME." Journal of Evidence Based Medicine and Healthcare 2, no. 50 (November 23, 2015): 8555–60. http://dx.doi.org/10.18410/jebmh/2015/1178.

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39

Fontana, L., B. Gentilin, L. Fedele, C. Gervasini, and M. Miozzo. "Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome." Clinical Genetics 91, no. 2 (November 16, 2016): 233–46. http://dx.doi.org/10.1111/cge.12883.

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40

Inam, Lubna. "Mayer-Rokitansky-Küster-Hauser Syndrome with Rare Findings of Crossed Fused Renal Ectopia and Ovarian Serous Cystadenoma." Journal of South Asian Federation of Obstetrics and Gynaecology 7, no. 3 (2015): 220–22. http://dx.doi.org/10.5005/jp-journals-10006-1364.

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ABSTRACT The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome occurs in one of 4,000 to 5,000 female births and is characterized by normal development of secondary sexual, congenital aplasia of uterus and upper part (2/3) of vagina, and normal fallopian tubes and ovaries. Therefore, individuals with MRKH syndrome are at normal risk of developing ovarian neoplasms. We report a case of 19 years old unmarried female who was admitted to the hospital with pain in lower abdomen for 7 months. She was having primary amenorrhea. Gynecological examination revealed a blind vaginal pouch. Rectal examination revealed a large left-sided 8 cm cystic mass which was mobile with a smooth surface. Uterus was not palpable. Phenotypic sex was female. Breast development, axillar and pubic hair development were normal. Abdominopelvic ultrasonography showed left-sided crossed fused renal ectopia and a heterogeneous hypoechoic cystic mass with dense internal echoes on left-side. Uterus was not visualized. Intravenous pyelography also confirmed the finding of left-sided crossed fused renal ectopia. At laparotomy, a 10 × 8 cm cystic hemorrhagic ovarian mass with a single twist of pedicle was found, with a normal right ovary and bilateral tubes. A small hypoplastic unicornuate uterus was present. Cervix was absent. Left-sided Salpingo-oophorectomy was done and tissue was sent for histopathology, which revealed ovarian serous cyst adenoma. All patients with vaginal agenesis must be regarded primarily as a MRKH syndrome and they must be investigated to establish whether there were any associated congenital anomalies. How to cite this article Asnani M, Srivastava K, Inam L, Kunwar S. Mayer-Rokitansky-Küster-Hauser Syndrome with Rare Findings of Crossed Fused Renal Ectopia and Ovarian Serous Cystadenoma. J South Asian Feder Obst Gynae 2015;7(3):220-222.
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Gündoğdu, Elif, Emre Emekli, Mehmet Oğuzman, and Mahmut Kebapçı. "Evaluation of the abdominopelvic region using MRI in patients with primary amenorrhea." Journal of Pediatric Endocrinology and Metabolism 32, no. 9 (September 25, 2019): 995–1003. http://dx.doi.org/10.1515/jpem-2019-0223.

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Abstract Background This study aimed to evaluate the imaging findings of patients who underwent an abdominal and pelvic magnetic resonance imaging (MRI) due to primary amenorrhea. Methods The pelvic and abdominal images of 34 female patients (mean age 15.61 years, range 14–19 years) were retrospectively analyzed by a single radiologist blinded to the clinical and laboratory data of the patients (other than primary amenorrhea) to evaluate the etiology of primary amenorrhea. The anatomy and anomalies of the internal genital organs and other accompanying abdominopelvic anomalies were investigated. Results Gonadal dysgenesis was present in 14 patients (41.17%) and Müllerian duct anomalies (MDAs) were present in 20 (58.83%) (Mayer-Rokitansky-Kuster-Hauser [MRKH] syndrome in 13 [65%], distal vaginal obstruction [DVO] findings in five [25%], and obstructed hemivagina and ipsilateral renal anomaly [OHVIRA] syndrome in two [10%]). Seven patients with MRKH (53.84%) were of type 1 and six (46.15%) were of type 2. A total of eight additional anomalies (vertebral and renal) were detected, six in MRKH and two in OHVIRA syndrome cases. Endometrioma and hematosalpinx were observed in one of the five patients with DVO (5%). Conclusions Primary amenorrhea is a common symptom that affects both the physical and psychosocial status of individuals. Determination of the underlying etiology is the first step in planning treatment. The evaluation of internal genital organ anomalies involved in the etiology is important for sexual function and fertility. MRI is a non-invasive imaging modality that should be preferred in these cases as it provides detailed data about the anatomy and anomalies of internal genital organs due to its high soft tissue contrast resolution.
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42

Barber, Chris. "Rare health conditions 23: Behçet's disease, Mayer Rokitansky Küster Hauser (MRKH) syndrome and Wilson's disease." British Journal of Healthcare Assistants 13, no. 5 (May 2, 2019): 214–18. http://dx.doi.org/10.12968/bjha.2019.13.5.214.

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The purpose of this series is to briefly highlight a range of rare health conditions. Rare health conditions are those that affect no more and usually fewer than 1 person in every 2000 and many healthcare assistants and nurses will encounter some of these conditions, given the high number of them. This 23rd article will explore three of these conditions: Behçet's syndrome; Mayer Rokitansky Küster Hauser syndrome (MRKH); and Wilson's disease.
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43

Pizzo, Alfonsa, Antonio Simone Laganà, Emanuele Sturlese, Giovanni Retto, Annalisa Retto, Rosanna De Dominici, and Domenico Puzzolo. "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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Chmel, Roman, Marta Nováčková, Nikoleta Chubanovová, and Zlatko Pastor. "Sexuality in women with Mayer-Rokitansky-Küster-Hauser syndrome." Česká gynekologie 86, no. 3 (June 24, 2021): 194–99. http://dx.doi.org/10.48095/cccg2021194.

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Summary: Objective: Evaluation of the quality of sexual life of women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) after neovagina creation using dilation and surgical techniques. Methods: Literature search of articles published in the years 2000–2021 using the databases Web of Science, Google Scholar and PubMed by key words: Mayer-Rokitansky-Küster-Hauser syndrome, neovagina, female sexuality and Female Sexual Function Index. We used a standardized international Female Sexual Function Index and other quantitative and qualitative parameters of sexual satisfaction to assess sexual function and overall satisfaction in women with neovagina. Results: It is possible to develop functional neovagina in women with MRKHS by either conservative or surgical techniques. The choice of the method used depends on the experience and skill of the surgeon, on the technical possibilities and equipment of the department, and on the anatomical predispositions and preferences of the patient. Satisfaction with sexual life also depends on the psychosexual maturity and sexual demands of both partners as well as on regular vaginal rehabilitation and quality of long-term psychological support. The functional results of dilation and surgical methods are comparable according to objective criteria. They only differ in individual aspects which correspond to the overall personality traits as well as to the character and quality of cohabitation. Conclusion: Women with MRKHS are primarily handicapped by coital insufficiency and inability to reproduce naturally. Creating a neovagina technically allows them to realize satisfactory coitus, but in most cases, they are still frustrated by the primary problem of „physical indisposition“ and complicated path to motherhood.
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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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46

Girgin, Reha. "MAYER-ROKITANSKY-KÜSTER-HAUSER (MRKH) SYNDROME: An Atypical Presentation." Medical Journal of Western Black Sea 2, no. 2 (August 31, 2018): 192–96. http://dx.doi.org/10.29058/mjwbs.2018.2.5.

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47

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 (November 2015): S103—S104. http://dx.doi.org/10.1016/j.jmig.2015.08.279.

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48

Radtke, S., and R. Furr. "Robotically-Assisted Metroplasty in a Patient with MRKH Syndrome." Journal of Minimally Invasive Gynecology 24, no. 7 (November 2017): S127. http://dx.doi.org/10.1016/j.jmig.2017.08.302.

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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 (July 9, 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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Yan, Lei, Xingbo Zhao, and Xiaoyan Qin. "MRKH syndrome with endometriosis: case report and literature review." European Journal of Obstetrics & Gynecology and Reproductive Biology 159, no. 1 (November 2011): 231–32. http://dx.doi.org/10.1016/j.ejogrb.2011.06.010.

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