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Laura Fontana, Barbara Gentilin, Luigi Fedele, Cristina Gervasini, Monica Miozzo
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also referred to as Müllerian agenesis, is the second most common cause of primary amenorrhea. It is characterized by congenital absence of the uterus, cervix, and the upper part of the vagina in otherwise phenotypically normal 46,XX females. MRKH syndrome has an incidence of about 1 in 4,500-5,000 newborn females and it is generally divided into two subtypes: MRKH type 1, in which only the upper vagina, cervix and the uterus are affected, and MRKH type 2, which is associated with additional malformations generally affecting the renal and skeletal systems, and also includes MURCS (MÜllerian Renal Cervical Somite) characterized by cervico-thoracic defects...
October 7, 2016: Clinical Genetics
A Ketheeswaran, J Morrisey, J Abbott, M Bennett, J Dudley, R Deans
No abstract text is available yet for this article.
November 2015: Journal of Minimally Invasive Gynecology
Lorenz Kuessel, René Wenzl, Marie-Louise Marschalek, Georg Slavka, Daniela Doerfler, Heinrich Husslein
OBJECTIVE: To provide a review of the literature regarding this technique as well as a step-by-step description with the goal of increasing its use as a safe surgical option. Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by vaginal agenesis and a variety of mullerian duct anomalies. To date, a variety of procedures have been described for creating a neovagina, but the best treatment remains debated. The Wharton-Sheares-George method, a minimally invasive surgical approach for the creation of a neovagina, is remarkably simple to perform...
September 24, 2016: Fertility and Sterility
Ching-Ting Lin, Tien-Huang Lin, Chien-Chen Wu, Lei Wan, Chun-Fa Huang, Hwei-Ling Peng
Klebsiella pneumoniae is the predominant pathogen isolated from liver abscesses of diabetic patients in Asian countries. However, the effects of elevated blood glucose levels on the virulence of this pathogen remain largely unknown. Type 3 fimbriae, encoded by the mrkABCDF genes, are important virulence factors in K. pneumoniae pathogenesis. In this study, the effects of exogenous glucose and the intracellular cyclic AMP (cAMP) signaling pathway on type 3 fimbriae expression regulation were investigated. The production of MrkA, the major subunit of type 3 fimbriae, was increased in glucose-rich medium, whereas cAMP supplementation reversed the effect...
2016: PloS One
Jonas Stenløkke Madsen, Leise Riber, Witold Kot, Alrun Basfeld, Mette Burmølle, Lars Hestbjerg Hansen, Søren Johannes Sørensen
Horizontal gene transfer (HGT), the transmission of genetic material to a recipient that is not the progeny of the donor, is fundamental in bacterial evolution. HGT is often mediated by mobile genetic elements such as conjugative plasmids, which may be in conflict with the chromosomal elements of the genome because they are independent replicons that may petition their own evolutionary strategy. Here we study differences between type 3 fimbriae encoded on wild type plasmids and in chromosomes. Using known and newly characterized plasmids we show that the expression of type 3 fimbriae encoded on plasmids is systematically different, as MrkH, a c-di-GMP dependent transcriptional activator is not needed for strong expression of the fimbriae...
2016: PloS One
Sanjiv V Choudhary, Uday V Choudhari
A 17-year-old girl presented with alopecia involving lateral margins of the scalp with primary amenorrhea. There was no history of parental consanguinity, and no other siblings were having similar complaints. Her secondary sexual characters were well developed with hypoplastic vagina. Histopathological findings from scalp biopsy showed features of alopecia areata. Ultrasonography of abdomen and pelvis revealed the absence of uterus and the right kidney. Follicle-stimulating hormone, luteinizing hormone, estradiol, testosterone, and thyroid function test was within normal limits...
July 2016: International Journal of Trichology
Farzaneh Sharifiaghdas, Azar Daneshpajooh, Samira Sohbati, Mahboubeh Mirzaei
Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare anomaly in women and is characterized by congenital aplasia of the uterus and vagina, with normal development of secondary sexual characteristics and a normal karyotype. We report a case of a 38-year-old women with MRKH syndrome that had experienced urethral sex for many years. She presented with urinary incontinence and dyspareunia. The patient's secondary sexual characteristics were normal, and examination revealed a widely open incompetent megalourethra and an absent vagina...
September 2016: Investigative and Clinical Urology
Morten Herlin, Anne-Mette Bay Bjørn, Maria Rasmussen, Birgitta Trolle, Michael Bjørn Petersen
STUDY QUESTION: What is the prevalence of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome? SUMMARY ANSWER: The prevalence of MRKH syndrome in Denmark is 1 in 4982 (95% confidence interval (CI): 4216-5887) live female births. WHAT IS KNOWN ALREADY: The prevalence of MRKH syndrome has been estimated to be around 1 in 4000-5000 females. However, population-based prevalence studies of MRKH syndrome are sparse. Moreover, population-based data on patient characteristics are lacking...
October 2016: Human Reproduction
Maria A Schumacher, Wenjie Zeng
The pathogenesis of Klebsiella pneumonia is linked to the bacteria's ability to form biofilms. Mannose-resistant Klebsiella-like (Mrk) hemagglutinins are critical for K pneumonia biofilm development, and the expression of the genes encoding these proteins is activated by a 3',5'-cyclic diguanylic acid (c-di-GMP)-regulated transcription factor, MrkH. To gain insight into MrkH function, we performed structural and biochemical analyses. Data revealed MrkH to be a monomer with a two-domain architecture consisting of a PilZ C-domain connected to an N domain that unexpectedly also harbors a PilZ-like fold...
September 6, 2016: Proceedings of the National Academy of Sciences of the United States of America
Lacey S Williams, Hyung-Goo Kim, Vera M Kalscheuer, J Matthew Tuck, Lynn P Chorich, Megan E Sullivan, Allison Falkenstrom, Richard H Reindollar, Lawrence C Layman
BACKGROUND: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, or the congenital absence of uterus and vagina, is the most severe anomaly of the female reproductive tract. It affects 1 in 5,000 females, and is the second most common cause of primary amenorrhea. The etiology remains unknown in most patients, although four single gene defects and some repetitive copy number variants (CNVs) have been identified. Translocations in MRKH patients are very rare, and reported only in three patients previously without breakpoint mapping...
2016: Molecular Cytogenetics
Irene Dimitriadis, Kelly Pagidas, Denis Vaughan, Young B Kim
BACKGROUND: Cases of women with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome developing leiomyomata are rare. A case with mitotically active leiomyomata has not previously been described to our knowledge. CASE: A 43-year-old woman with MRKH syndrome found to have an incidental pelvic mass on imaging studies underwent a diagnostic laparoscopy, followed by resection of leiomyomata and uterine remnant via mini laparotomy. Histopathology revealed focal infarction associated with a mitotically active area in one of the leiomyomata but with no evidence of marked cytologic atypia or hypercellularity...
May 2016: Journal of Reproductive Medicine
Mingle Zhang, Suolin Li, Xianghua Huang, Hui Du, Chengshu Wang, Lijuan Zhang, Yanan Li, Jingkun Zhang, Zhenhai Wang
OBJECTIVE: To validate the technical feasibility and anatomical and functional outcomes of transumbilical single-incision laparoscopic (SIL) sigmoid vaginoplasty hybrid transperineal approach in women with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. METHODS: Twenty-five patients who underwent transumbilical SIL sigmoid vaginoplasty hybrid transperineal approach were retrospectively evaluated. Operation time and postoperative complications were analyzed. The length and breadth of the neovagina, lubrication and the Female Sexual Function Index were evaluated to assess the anatomical and functional outcomes of the surgery...
September 2016: International Urology and Nephrology
Hong-Xin Pan, Guang-Nan Luo
OBJECTIVE: To analyze the phenotypic and clinical aspects of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. DESIGN: Cross-sectional study. SETTING: University hospital. PATIENT(S): Five hundred and ninety-four patients with MRKH syndrome. INTERVENTION(S): Clinical examination, abdominal or perineal/rectal ultrasound, magnetic resonance imaging, hormonal profile, karyotype, and laparoscopy. MAIN OUTCOME MEASURE(S): Clinicopathologic data, VCUAM (vagina cervix uterus adnex-associated malformation) classification, types with cycle phase, and karyotype...
June 24, 2016: Fertility and Sterility
Kazumi Takahashi, Eri Nakamura, Shingo Suzuki, Mari Shinoda, Yoshihiro Nishijima, Yuko Ohnuki, Akane Kondo, Takashi Shiina, Takahiro Suzuki, Shunichiro Izumi
OBJECTIVE: Several surgical techniques have been described for creating a neovagina in patients with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, however as yet there is no standardized treatment. The aim of this report is to assess anatomic and functional outcomes after the laparoscopic Davydov procedure for the creation of a neovagina in patients with MRKH syndrome. METHODS: Seven patients with MRKH syndrome underwent the laparoscopic Davydov technique from January 2005 to August 2010...
2016: Tokai Journal of Experimental and Clinical Medicine
Brijesh Mishra, Gaurav Janavar, Yashodhara Pradeep, Arun K Singh, Vijay Kumar, Divya N Upadhyay
Absence of vagina poses multitude of physical and psychosocial problems in woman's life. 10% of Mayer- Rokitansky-üster-Hauser (MRKH) syndrome patients with high vaginal septum and vaginal atreisa has additional issue of draining uterine cavity. MC Indoe vaginoplasty is universally acceptable and widely practiced procedure for neocolposis reconstruction. Simultaneous reconstruction of vagina with simultaneous continued uterine drainage presents surgical challenge. We offer a simple solution of creating a vaginal mould using a 10 ml disposable syringe, which enables graft application of neovaginal cavity with simultaneous protected uterine drainage per vaginum...
January 2016: Indian Journal of Plastic Surgery: Official Publication of the Association of Plastic Surgeons of India
Alpana Meena, Mradul Kumar Daga, Rashmi Dixit
Gonadal dysgenesis and Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) are the most common causes of primary amenorrhoea. Patients with gonadal dysgenesis present with primary amenorrhoea and lack of secondary sexual characteristics, which, in contrast, are present in patients with MRKHS. The coexistence of the 2 syndromes has been reported in only a few studies so far. We describe a case of a 15-year-old girl who presented with short stature and primary amenorrhoea. Investigations revealed hypergonadotropic hypogonadism, and absence of the uterus, and upper two-thirds of the vagina, with presence of the rudimentary lower third of the vagina and non-visualised bilateral ovaries on imaging...
2016: BMJ Case Reports
Kamal Nath, Bhanita Boro, Subrata Naskar
The psychiatric co-morbidities in female population with mullerian agenesis is an area with limited research. This is probably due to the fact that when those patients are diagnosed not much attention or information is given for long term psychiatric follow-up. Owing to their inability to bear children, these subjects often become socially harassed. Thus these constant stressors may lead to development of psychopathology in future. Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a congenital abnormality with absence of uterus, cervix and vagina, but normal secondary sexual characteristics and external genitalia and occurs in every 1 out of 4000-10,000 females...
April 2016: Journal of Clinical and Diagnostic Research: JCDR
Haili Wang, Yanfeng Yan, Dan Rong, Jing Wang, Hongduo Wang, Zizhong Liu, Jiaping Wang, Ruifu Yang, Yanping Han
Biofilm formation is closely related to the pathogenetic processes of Klebsiella pneumoniae, which frequently causes infections in immunocompromised individuals. The immune system of astronauts is compromised in spaceflight. Accordingly, K. pneumoniae, which used to be isolated from orbiting spacecraft and astronauts, poses potential threats to the health of astronauts and mission security. Microgravity is a key environmental cue during spaceflight. Therefore, determining its effects on bacterial biofilm formation is necessary...
May 16, 2016: MicrobiologyOpen
Joseph Nassif, Joe Eid, Pierre Akiki, Ali Khalil, Ghina Ghazeeri
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital disorder characterized by uterine aplasia and aplasia of the upper part of the vagina. It presents with primary amenorrhea in a 46, XX individual. In this paper, we report the cases of two patients with MRKH syndrome treated with the laparoscopic modified Vecchietti technique using the optimized new instruments. A neovagina was successfully created in these two patients. This minimally invasive technique offers improvements in terms of operative time, complications, and functionality...
April 2016: Surgical Technology International
Wubishet Girma, Wondimagegnehu Woldeyes
BACKGROUND: Leiomyoma with secondary changes arising from Mullerian remnant may mimic ovarian tumor in women with Mayer-Rockitansky-Kuster-Hauser (MRKH) syndrome in patients with pelvic mass and urologic abnormalities. CASE DETAIL: The patient was a 40 years old known case of MRKH, presented with lower abdominal pain and swelling for over one year. On physical examination, large pelvic mass (about 15cm by 10cm) was found and a diagnosis of ovarian tumor was made by imaging which also showed absent right kidney...
October 2015: Ethiopian Journal of Health Sciences
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