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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
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
M Sirakov, E Tomova
Mayer-Rokitansky-Küster-Hauser syndrome is a part of the group of abnormalities known as "Anomalies of the fusion of the Müllerian ducts". It is characterized by normal development of breasts and hairs, normal appearance of external genitalia, normal feminine genotype (46XX), normal FSH, LH, E₂ and Test. levels, normal ovaries and congenital absence of uterus and the whole or the upper two thirds of the vagina. It is observed in about 15% of the cases with primary amenorrhea and the incidence is about 1:4500-6000...
2016: Akusherstvo i Ginekologii︠a︡
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
Seonghye Gweon, Jisun Lee, Suna Hwang, Kyoung Joo Hwang, Miran Kim
The combination of Müllerian agenesis with inguinal ovaries accompanied by primary ovarian insufficiency is extremely rare. A 21-year-old Korean woman was referred to our center with primary amenorrhea. The patient was diagnosed with Müllerian agenesis with inguinal ovaries. Her hormonal profile showed hypergonadotrophic hypogonadism suggesting primary ovarian insufficiency. We performed laparoscopic neovaginoplasty using modified Davydov's procedure and reposition inguinal ovaries in the pelvic cavity. Oral estrogen replacement was applied for the treatment of primary ovarian insufficiency...
July 2016: Obstetrics & Gynecology Science
Anne-Marie Amies Oelschlager, Katherine Debiec, Heather Appelbaum
PURPOSE OF REVIEW: Primary vaginal dilation is patient controlled, safe, less painful, and much lower cost compared with operative vaginoplasty and is considered first-line treatment for vaginal agenesis for women with Mayer-Rokitansky-Küster-Hauser syndrome and androgen insensitivity syndrome. RECENT FINDINGS: This review will highlight studies that assess the optimal methods of primary vaginal dilation and clarify ideal counseling, frequency of dilation, management of side-effects, and long-term physical and psychological outcomes...
October 2016: Current Opinion in Obstetrics & Gynecology
John C Petrozza
No abstract text is available yet for this article.
July 15, 2016: Fertility and Sterility
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
Nilgün Eroğlu, Erol Erduran, Mustafa İmamoğlu, Zeynep Sağnak, Ayşegül Cansu
Adenomyomatosis of the gallbladder (ADMG) is characterized by proliferation of the mucosal epithelium and hypertrophy of the muscularis. ADMG is predominantly diagnosed by using ultrasonography. Although ADMG is benign in nature, lithiasis, and chronic inflammation secondary to it may lead to dysplastic changes and cancer. Mucosal invagination through the hypertrophied muscularis results in large intramural diverticula or sinus tracts which are visible at radiology, known as Rokitansky-Aschoff sinuses. Histologically, ADMG manifests with hyperplasia of the muscular layer and proliferation of mucosal glandular tissues...
November 2016: Journal of Pediatric Hematology/oncology
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
Ryuichiro Sato, Toshinori Ando, Hiroo Tateno, Toshiki Rikiyama, Toru Furukawa, Nobuo Ebina
Intraepithelial neoplasias are preinvasive neoplastic lesions found throughout in the digestive system, and when such lesions are discovered in the gallbladder, they are referred to as intracystic papillary neoplasm (ICPN). In the gallbladder, mucinous adenocarcinoma is a rare histologic phenotype, and adenocarcinomas involving Rokitansky-Aschoff (RA) sinuses are uncommon, which were indeed found in a case reported here. A 64-year-old male presenting with upper abdominal pain demonstrated a spherical mass protruding outward from the gallbladder fundus in imaging studies...
December 2016: Surgical Case Reports
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
Adeline Jacquinet, Debra Millar, Anna Lehman
Ranging from aplastic uterus (including Mayer-Rokitansky-Kuster-Hauser syndrome) to incomplete septate uterus, uterine malformations as a group are relatively frequent in the general population. Specific causes remain largely unknown. Although most occurrences ostensibly seem sporadic, familial recurrences have been observed, which strongly implicate genetic factors. Through the study of animal models, human syndromes, and structural chromosomal variation, several candidate genes have been proposed and subsequently tested with targeted methods in series of individuals with isolated, non-isolated, or syndromic uterine malformations...
August 2016: American Journal of Medical Genetics. Part A
Diane F van Rappard, Marianna Bugiani, Jaap J Boelens, Alida F W van der Steeg, Freek Daams, Tim G J de Meij, Martine M A C van Doorn, Peter M van Hasselt, Dirk J Gouma, Jonathan I M L Verbeke, Carla E M Hollak, Wim van Hecke, Gajja S Salomons, Marjo S van der Knaap, Nicole I Wolf
OBJECTIVES: To assess frequency of gallbladder polyposis and carcinoma in metachromatic leukodystrophy (MLD). METHODS: We evaluated 34 patients with MLD (average age 16.7 years, age range 2-39 years) screened for gallbladder abnormalities by ultrasound. In the case of cholecystectomy, findings at pathology were reviewed. RESULTS: Only 8 of 34 patients (23%) had a normal gallbladder at ultrasound. Gallbladder polyps were visible in 8 patients (23%)...
July 5, 2016: Neurology
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