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X X Gao, L Zhu, S J Yu, T Xu
Objective: To develop the Chinese version of modified body image scale (MBIS) questionnaires, and to validate them in Chinese population. Methods: The original English MBIS questionnaire was translated into Chinese, following the WHO cross-cultural adaptation of health-related quality of life measures. The reliability and validity of the Chinese version of MBIS questionnaires were evaluated in Chinese population, MRKH syndrome patients. Results: Totally 50 patients with MRKH syndrome completed the MBIS and short-form 12-item health survey (SF-12) questionnaires...
February 25, 2018: Zhonghua Fu Chan Ke za Zhi
Susanne Ledig, Peter Wieacker
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome [MIM 277000] is characterised by the absence of a uterus and vagina in otherwise phenotypically normal women with karyotype 46,XX. Clinically, the MRKH can be subdivided into two subtypes: an isolated or type I form can be delineated from a type II form, which is characterised by extragenital malformations. The so-called Müllerian hypoplasia, renal agenesis, cervicothoracic somite dysplasia (MURCS) association can be seen as the most severe phenotypic outcome...
2018: Medizinische Genetik: Mitteilungsblatt des Berufsverbandes Medizinische Genetik E.V
Durkadin Demir Eksi, Yiping Shen, Munire Erman, Lynn P Chorich, Megan E Sullivan, Meric Bilekdemir, Elanur Yılmaz, Guven Luleci, Hyung-Goo Kim, Ozgul M Alper, Lawrence C Layman
Background: Little is known about the genetic contribution to Müllerian aplasia, better known to patients as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Mutations in two genes (WNT4 and HNF1B) account for a small number of patients, but heterozygous copy number variants (CNVs) have been described. However, the significance of these CNVs in the pathogenesis of MRKH is unknown, but suggests possible autosomal dominant inheritance. We are not aware of CNV studies in consanguineous patients, which could pinpoint genes important in autosomal recessive MRKH...
2018: Molecular Cytogenetics
Bao T Nguyen, Katherine L Dengler, Rhiana D Saunders
Background: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a congenital condition characterized by aplasia of the vagina with or without concurrent uterine and/or cervical aplasia. Type II (MURCS) is a rare form involving MUllerian agenesis, Renal agenesis, and Cervicothoracic Somite anomalies. Case: A 17-yr-old virginal female presented for evaluation of primary amenorrhea and pelvic pain. Her medical history was significant for a bicuspid aortic valve and right radial dysplasia...
February 5, 2018: Military Medicine
Shailesh Puntambekar, Milind Telang, Pankaj Kulkarni, Seema Puntambekar, Sanjeev Jadhav, Mangesh Panse, Ravindra Sathe, Nikhil Agarkhedkar, Neeta Warty, Sandesh Kade, Manoj Manchekar, Hirav Parekh, Kajal Parikh, Riddhi Desai, Mehul Mehta, Mihir Chitale, Bhushan Kinholkar, Joy Shankar Jana, Avinash Pare, Abhay Sadre, Swapnil Karnik, Abhay Mane, Giriraj Gandhi, Shailendra Kanade, Uday Phadke
OBJECTIVE: To report the first ever laparoscopic-assisted live donor uterus retrieval in two patients for uterus transplant DESIGN: Case study (Canadian Task Force Classification Level III) SETTING: Galaxy CARE Laparoscopy Institute, Pune, India PATIENT(S): Two patients with AUFI with their mothers as donors. INTERVENTION(S): A twelve member team was formed and approval for transplant was obtained from Institutional Review Board (IRB). Pre transplant, In Vitro Fertilization (IVF) for both patients was done...
January 20, 2018: Journal of Minimally Invasive Gynecology
Tian Meng, Ming Bai, Ru Zhao
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...
October 2017: Breast Care
Michael W Slater, Xochitl Vinaja, Islam Aly, Marios Loukas, Mark Terrell, Justine Schober
Transgender reassignment surgeries have become a major topic of interest within the last decade. Although there are numerous surgical techniques for male-to-female reassignment, a physician must assess each patient's anatomy and past medical history to determine the most suitable technique. Additionally, patient preference is important. The neovaginal constructive technique most commonly used in male-to-female reassignment surgery is penile skin inversion, but various other techniques and tissues can also be used including pelvic peritoneum, buccal mucosa, and bowel...
March 2018: Clinical Anatomy
Melanie Henes, Ludmila Jurow, Andreas Peter, Birgitt Schoenfisch, Florin Andrei Taran, Markus Huebner, Harald Seeger, Sara Yvonne Brucker, Kristin Katharina Rall
PURPOSE: This study aimed to analyze the hormone profiles, to detect the rate of hyperandrogenemia and to investigate the potential effect of Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) on ovarian reserve, as reflected by the serum Anti-Mullerian hormone (AMH) levels. Clinical implications were analyzed by including our own experiences with three patients after ovarian stimulation in preparation for uterus transplantation. METHODS: Serum samples of 100 patients with MRKHS (50 patients with MRKHS type 1 and 50 with type 2) were analyzed and compared to 50 individually age-matched healthy controls...
February 2018: Archives of Gynecology and Obstetrics
Shailesh Puntambekar, Milind Telang, Pankaj Kulkarni, Sanjeev Jadhav, Ravindra Sathe, Neeta Warty, Seema Puntambekar, Sandesh Kade, Mangesh Panse, Nikhil Agarkhedkar, Giriraj Gandhi, Manoj Manchekar, Hirav Parekh, Kajal Parikh, Riddhi Desai, Mehul Mehta, Mihir Chitale, Sambit Nanda
OBJECTIVE: The authors present the first ever laparoscopic assisted uterus retrieval in live donor for uterus transplant. DESIGN: A step-by-step surgical demonstration SETTING: Galaxy CARE Laparoscopy Institute, Pune, India PATIENT(S): Two patients, ages 21 and 26 with Mayer Rokitansky Kuster Hauser (MRKH) syndrome and Ashermann's syndrome respectively, with their mothers as donors. INTERVENTION(S): A Twelve member team was formed. After review of available literature on uterine transplant a protocol was formulated and submitted to the IRB...
November 10, 2017: Journal of Minimally Invasive Gynecology
Ashradha Ketheeswaran, Jennifer Morrisey, Jason Abbott, Michael Bennett, Jan Dudley, Rebecca Deans
AIMS: To evaluate the effect of adjuvants during intensive vaginal dilator therapy for functional and anatomical neovagina creation in women with Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH). METHODS: This retrospective cohort study included 75 women with MRKH undergoing intensive vaginal dilator treatment between 2000 and 2014. One specialist nurse performed non-surgical vaginal dilation aided by adjuvants, during inpatient admissions for several dilation sessions per day...
September 28, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
Sarah P Huepenbecker, Laura Divine, Christina S Chu, David G Mutch
BACKGROUND: Mayer-Rokitansky-Küster-Hauser syndrome is a rare entity with proposed genetic underpinnings. Ovarian carcinoma has well-described genetic associations and syndromes, although much of the etiology of the disease remains unknown. CASES: Two sisters present in the 1970s with primary amenorrhea, 46, XX karyotypes, and absent uteri consistent with MRKH syndrome. In the 2010s, both sisters again present for care. Case 1 presents one sister with stage IIIC serous ovarian adenocarcinoma and negative BRCA panel...
November 2017: Gynecologic Oncology Reports
Alexander L Juusela, Ilana Naghi, Suresh Thani
BACKGROUND: Patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome are infertile secondary to hypoplasia or complete agenesis of the uterus, yet they remain at risk of primary neoplasms of the ovaries because embryologically the uterus and ovaries develop via separate mechanisms. CASE: A 72-year-old nulliparous woman with a history of primary amenorrhea underwent an exploratory laparotomy for a suspected uterine fibroid. In addition to the pelvic mass, the patient was found to have findings consistent with MRKH syndrome...
September 15, 2017: Female Pelvic Medicine & Reconstructive Surgery
Charu Tiwari, Hemanshi Shah, Mukta Waghmare, Kiran Khedkar
A female neonate with two openings in the introitus and an absent anal opening at the anal site presents a diagnostic challenge. Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome associated with rectovestibular fistula, though rare, should be kept in mind as a differential diagnosis of this presentation. We present such a case in a one-year-old female child with MRKH syndrome and rectovestibular fistula.
March 2017: Turkish Journal of Obstetrics and Gynecology
Deb Kumar Boruah, Shantiranjan Sanyal, Bidyut Bikash Gogoi, Kangkana Mahanta, Arjun Prakash, Antony Augustine, Sashidhar Achar, Hiranya Baishya
INTRODUCTION: Mayer-Rokitansky-Kuster-Hauser (MRKH) synd-rome is a malformation in female genital tract due to interrupted embryonic development of para-mesonephric ducts leading to uterine and proximal vagina aplasia or hypoplasia. AIM: To analyse the MRI findings in females suspected of MRKH syndrome in a primary amenorrhea workup. MATERIALS AND METHODS: A cross-sectional study comprising of 11 patients of MRKH syndrome presented in a tertiary care centre from March 2016 to February 2017 evaluated in 1...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
Musa Kayondo, Joseph Njagi, Peter Kivuniike Mukasa, Tom Margolis
BACKGROUND: Although vaginal agenesis as may occur in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare condition, it is associated with not only anatomical problems but also serious psychological and social problems like painful sexual intercourse, primary amenorrhea and infertility. Surgery, which is aimed at reconstruction of a vagina of adequate length and width to serve the function, is the main method of treatment. Many methods for vaginal reconstruction have been described but each has its complications and limitations...
August 29, 2017: BMC Urology
R Flyckt, A Davis, R Farrell, S Zimberg, A Tzakis, T Falcone
Uterine factor infertility (UFI) is a condition that affects thousands of women and is estimated to have a prevalence as high as one in five hundred reproductive-aged women. A wide range of circumstances can lead to UFI and include women with congenital absence of a uterus (Mayer Rokitansky Kuster Hauser or MRKH syndrome), women who have undergone iatrogenic removal of the uterus, or women who have uteri that are in situ but have been damaged by infection or surgical instrumentation. There have been 17 published reports of human uterine transplantation in the world...
August 15, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
Yue Wang, Jingjing Lu, Lan Zhu, Zhijing Sun, Bo Jiang, Feng Feng, Zhengyu Jin
OBJECTIVE: To characterize the anatomical features and clinical settings of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and correlate them with patterns of uterine involvement. METHODS: Pelvic magnetic resonance images and medical records of 92 MRKH patients were retrospectively reviewed. Patients were subgrouped by uterine morphology: uterine agenesis, unilateral rudimentary uterus and bilateral rudimentary uteri. Uterine volume, presence of endometrium, location of ovary, endometriosis and pelvic pain were compared among groups...
December 2017: European Radiology
Richa Vatsa, Juhi Bharti, Kallol Kumar Roy, Sunesh Kumar, Jai Bhagwan Sharma, Neeta Singh, Seema Singhal, Jyoti Meena
OBJECTIVE: To assess the outcome of amnion vaginoplasty in cases of vaginal agenesis due to Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome managed at the authors' institution. DESIGN: Retrospective study. SETTING: Tertiary care hospital. PATIENT(S): Fifty women with MRKH who underwent neovaginoplasty. INTERVENTION(S): Modified McIndoe's vaginoplasty was done in all the patients, using human amnion graft...
August 2017: Fertility and Sterility
Xiaoli Zhang, Zhongyu Liu, Yizhuo Yang, Yuanqing Yao, Ye Tao
OBJECTIVE: The aim of the study is to evaluate the clinical outcomes of vaginoplasty using tissue-engineered biomaterial mesh in the patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. PATIENTS AND METHODS: Patients with MRKH syndrome underwent the vaginoplasty using tissue-engineered biomaterial mesh between January 2006 and August 2014 in PLA general hospital. We analyzed the anatomic results and collected the standardized FSFI (Female Sexual Function Index) questionnaire from each patient...
June 10, 2017: International Journal of Surgery
Lacey S Williams, Durkadin Demir Eksi, Yiping Shen, Amy C Lossie, Lynn P Chorich, Megan E Sullivan, John A Phillips, Munire Erman, Hyung-Goo Kim, Ozgul M Alper, Lawrence C Layman
OBJECTIVE: To study the genetic cause of Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH). Although a few candidate genes and genomic domains for have been reported for MRKH, the genetic underpinnings remain largely unknown. Some of the top candidate genes are WNT4, HNF1B, and LHX1. The goals of this study were to: 1) determine the prevalence of WNT4, HNF1B, and LHX1 point mutations, as well as new copy number variants (CNVs) in people with MRKH; and 2) identify and characterize MRKH cohorts...
July 2017: Fertility and Sterility
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