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https://www.readbyqxmd.com/read/28216916/a-rare-case-of-46-xx-gonadal-dysgenesis-and-mayer-rokitansky-kuster-hauser-syndrome
#1
Sriharibabu Manne, C H Veeraabhinav, Mounica Jetti, Yalamanchali Himabindu, Kiranmai Donthu, Mutyalarayudu Badireddy
46,XX gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism. Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in a woman with normal development of secondary sexual characteristics and a normal 46,XX karyotype. The phenotypic manifestations of MRKH syndrome may sometimes overlap with various other syndromes and require accurate delineation...
October 2016: Journal of Human Reproductive Sciences
https://www.readbyqxmd.com/read/28216908/role-of-progenitor-cell-producing-normal-vagina-by-metaplasia-in-laparoscopic-peritoneal-vaginoplasty
#2
Pravin N Mhatre, Hemraj R Narkhede, P Amol Pawar, P Jyoti Mhatre, Das Dhanjit Kumar
CONTEXT: Host of vaginoplasty techniques have been described. None has been successful in developing normal vagina. Laparoscopic peritoneal vaginoplasty (LPV) is performed in Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) culminating in normal vagina. AIMS: This study aims to confirm normal development of neovagina by anatomical and functional parameters of histology, cytology, and ultrasonography (USG) in LPV. To identify peritoneal progenitor cell by OCT4/SOX2 markers...
October 2016: Journal of Human Reproductive Sciences
https://www.readbyqxmd.com/read/28216131/assessing-the-experience-of-vaginal-dilator-use-and-potential-barrier-to-ongoing-use-among-a-focus-group-of-women-with-mrkh
#3
Oluyemisi A Adeyemi-Fowode, Jennifer E Dietrich
STUDY OBJECTIVE: To assess the experience of dilator use for neovagina creation in women diagnosed with Mayer Rokitansky Kuster Hauser (MRKH) Syndrome and identify barriers affecting patient compliance with dilator use. DESIGN: and Setting: Qualitative study using a structured questionnaire to investigate perception and identify barriers regarding vaginal dilator use. Questionnaire was administered following viewing of a 2-minute patient educational video to additionally examine the usefulness of a patient education video tool as an adjunct to counseling in clinic on vaginal dilator use...
February 16, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/28210483/intra-peritoneal-leiomyoma-of-the-round-ligament-in-a-patient-with-mayer-rokitansky-k%C3%A3-ster-hauser-mrkh-syndrome
#4
G Salem Wehbe, R Bitar, T Zreik, M Samaha, C Walter, Z Sleiman
BACKGROUND: The occurrence of an extra-uterine leiomyoma, arising from the intra-peritoneal portion of the round ligament in a lady with Müllerian agenesis diagnosed at the age of forty is extremely rare. We report a case of this rare combination in a Middle Eastern woman. CASE: A 40 years old lady, primarily amenorrheic, presented to our clinic for an infertility consultation. The work- up showed features suggestive of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with a leiomyoma arising from the intra-peritoneal part of the round ligament...
December 2016: Facts, Views & Vision in ObGyn
https://www.readbyqxmd.com/read/28163292/a-case-of-intracystic-papillary-neoplasm-of-the-gallbladder-that-exhibited-findings-similar-to-gallbladder-adenomyomatosis-with-the-formation-of-intramural-cysts-because-of-rokitansky-aschoff-sinus-infiltration
#5
Jun Unno, Takehiro Akahane, Kenichiro Nakagawa, Keiichiro Hiramoto, Yasuchika Yamamoto, Gen Tominaga, Fumiyoshi Fujishima, Yuko Itakura
A 74-year-old man underwent regular follow-up observations after being diagnosed with gallbladder adenomyomatosis based on findings, such as the thickening of the wall of the gallbladder fundus and the presence of intramural cysts. Over the course of 3 years, a papillary tumor located on the thickened wall of the gallbladder had increased in size and extended into the lumen. Consequently, the patient was diagnosed with gallbladder cancer and underwent extended cholecystectomy. The histological diagnosis was intracystic papillary neoplasm (ICPN) of the gallbladder...
2017: Nihon Shokakibyo Gakkai Zasshi, the Japanese Journal of Gastro-enterology
https://www.readbyqxmd.com/read/28127678/gallbladder-adenomyomatosis-imaging-findings-tricks-and-pitfalls
#6
REVIEW
Matteo Bonatti, Norberto Vezzali, Fabio Lombardo, Federica Ferro, Giulia Zamboni, Martina Tauber, Giampietro Bonatti
: Gallbladder adenomyomatosis (GA) is a benign alteration of the gallbladder wall that can be found in up to 9% of patients. GA is characterized by a gallbladder wall thickening containing small bile-filled cystic spaces (i.e., the Rokitansky-Aschoff sinuses, RAS). The bile contained in RAS may undergo a progressive concentration process leading to crystal precipitation and calcification development. A correct characterization of GA is fundamental in order to avoid unnecessary cholecystectomies...
January 26, 2017: Insights Into Imaging
https://www.readbyqxmd.com/read/28003020/vertebral-defect-anal-atresia-cardiac-defect-tracheoesophageal-fistula-esophageal-atresia-renal-defect-and-limb-defect-association-with-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome-in-co-occurrence-two-case-reports-and-a-review-of-the-literature
#7
Thomas Bjørsum-Meyer, Morten Herlin, Niels Qvist, Michael B Petersen
BACKGROUND: The vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser syndrome are rare conditions. We aimed to present two cases with the vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association and Mayer-Rokitansky-Küster-Hauser co-occurrence from our local surgical center and through a systematic literature search detect published cases...
December 21, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27987200/metastatic-papillary-adenocarcinoma-in-a-22-year-old-is-her-history-of-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome-causative-or-incidental
#8
Regina J Brown, Joshua H Petit, Lars Widdel, Patricia S Huguelet, Colin Weekes
No abstract text is available yet for this article.
December 15, 2016: Oncology (Williston Park, NY)
https://www.readbyqxmd.com/read/27865679/percutaneous-closure-of-isolated-ostium-secundum-type-atrial-septal-defect-in-a-patient-with-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome
#9
Murat Akcay, Okan Gulel, Korhan Soylu, Murat Meric, Muzaffer Elmali
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital anomaly characterized by complete or partial aplasia of the uterus and the upper part of the vagina. It is reported to be associated with cardiovascular disorders including atrial septal defect, anomalous pulmonary venous return, aortopulmonary window, pulmonary valve stenosis, mitral valve prolapse, tetralogy of Fallot, truncus arteriosus, and patent ductus arteriosus. Herein, for the first time in the medical literature, we present percutaneous closure of an isolated ostium secundum atrial septal defect in this syndrome...
December 2016: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/27852280/treatment-management-during-the-adolescent-transition-period-of-girls-and-young-women-with-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome-mrkhs-a-systematic-literature-review
#10
REVIEW
Anke Wagner, Sara Yvonne Brucker, Esther Ueding, Dagmar Gröber-Grätz, Elisabeth Simoes, Katharina Rall, Andrea Kronenthaler, Norbert Schäffeler, Monika A Rieger
INTRODUCTION: In health services research, there is a special emphasis on the transition from adolescence into adulthood. During this transition period, adolescents change from pediatric to adult medical care. This process must be carefully structured, particularly when special medical care is required. Challenges and difficulties become apparent particularly in the case of rare diseases. This is increasingly so when the rare disease affects the adolescence-specific development of patients, such as Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), also known as Müllerian agenesis...
November 16, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27843659/rare-case-of-leiomyoma-and-adenomyosis-in-mayer-rokitansky-kuster-hauser-syndrome
#11
P S Hoo, A R Norhaslinda, J N Shah Reza
We report a case of adenomyosis which developed from a hypoplastic uterus and leiomyoma in a patient with MRKH syndrome. A 45-year-old Malay female with primary amenorrhoea and primary infertility presented with abdominal mass and abdominal pain. She is phenotypically female, has well developed secondary sexual characteristics, and has normal female external genitalia with shallow vagina dimple. Transabdominal ultrasonography showed a homogenous adnexal mass of 10 × 8 cm, uterus sized 5 × 4 cm, and normal kidneys...
2016: Case Reports in Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27825026/congenital-malformations-and-other-comorbidities-in-125-women-with-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome
#12
Karina Kapczuk, Kinga Iwaniec, Zbigniew Friebe, Witold Kędzia
OBJECTIVE: To describe congenital malformations and coexisting disorders occurring in 125 Polish women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS). The syndrome is defined as uterovaginal aplasia in female with normal 46,XX karyotype. STUDY DESIGN: A retrospective analysis of the clinical data of MRKHS patients diagnosed or treated at the Gynecology and Obstetrics Clinical Hospital of Poznan University of Medical Sciences between 2010 and 2015. RESULTS: Sixty-eight patients (54,4%) were found to have one or more coexisting anomalies...
December 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/27788530/creation-of-a-neovagina-by-laparoscopic-modified-vecchietti-technique-anatomic-and-functional-results
#13
Eduardo Baptista, Giselda Carvalho, Carlos Nobre, Isabel Dias, Isabel Torgal
Purpose To evaluate the anatomic and functional results of a laparoscopic modified Vecchietti technique for the creation of a neovagina in patients with congenital vaginal aplasia. Methods Retrospective study of nine patients with congenital vaginal aplasia submitted to the laparoscopic Vecchietti procedure, in our department, between 2006 and 2013. The anatomical results were evaluated by assessing the length, width and epithelialization of the neovagina at the postoperative visits. The functional outcome was evaluated using the Rosen Female Sexual Function Index (FSFI) questionnaire and comparing the patients' results to those of a control group of 20 healthy women...
September 2016: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/27716927/genetics-of-mayer-rokitansky-k%C3%A3-ster-hauser-mrkh-syndrome
#14
REVIEW
L Fontana, B Gentilin, L Fedele, C Gervasini, M 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...
February 2017: Clinical Genetics
https://www.readbyqxmd.com/read/27678567/vaginal-dilation-in-mayer-rokitansky-kuster-hauser-mrkh-syndrome
#15
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
https://www.readbyqxmd.com/read/27678038/using-the-wharton-sheares-george-method-to-create-a-neovagina-in%C3%A2-patients-with-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome-a-step-by-step-video-tutorial
#16
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...
December 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27625567/mayer-rokitansky-k%C3%A3-ster-hauser-syndrome-with-alopecia-a-rare-case-report-with-review-of-literature
#17
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
https://www.readbyqxmd.com/read/27617320/an-unusual-cause-of-urinary-incontinence-urethral-coitus-in-a-case-of-mayer-rokitansky-kuster-hauser-syndrome
#18
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
https://www.readbyqxmd.com/read/27609979/prevalence-and-patient-characteristics-of-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome-a-nationwide-registry-based-study
#19
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
https://www.readbyqxmd.com/read/27514132/-conservative-treatment-of-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome-review-of-literature-and-our-experience
#20
REVIEW
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
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