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mullerian agenesis

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
Ömer Özkan, Özlenen Özkan, Anı Çinpolat, Nasuh Utku Doğan, Gamze Bektaş, Kemal Dolay, Alihan Gürkan, Cumhur Arıcı, Selen Doğan
Although vaginal reconstructions with intestinal segments require particularly complex surgical procedures, this technique has become popular with respect to fairly good functional and esthetic outcomes. This study describes cases of vaginal reconstruction performed using a modified rectosigmoid colon held in an ischemic state in order to reduce secretion and denervated in order to prevent defecation problems. Vaginal reconstructions with rectosigmoid colon were performed on 43 patients. In this retrospective study, 34 patients had Müllerian agenesis, while nine had undergone male to female sex reassignment surgery in which adequate vaginal depth had not been achieved...
March 8, 2018: Journal of Plastic Surgery and Hand Surgery
M Alexandra Friedman, Liza Aguilar, Quetrell Heyward, Carol Wheeler, Anthony Caldamone
BACKGROUND: Mullerian anomalies have a known association with renal agenesis yet, to date, there are no formal recommendations for screening women with certain renal anomalies for associated genital tract disorders. OBJECTIVE: The objective of this study is to review current data regarding the association between renal and Mullerian anomalies, and propose screening recommendations. STUDY DESIGN: A comprehensive review of the literature was performed to identify relevant articles using the keywords "unilateral renal agenesis," "renal anomalies," and "Mullerian anomalies...
February 9, 2018: Journal of Pediatric Urology
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
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
Ali Mahdavi, Hadi Mirfazaelian, Ladan Younesi Asl, Zeynab Hasani, Maryam Bahreini
Müllerian ducts can form upper parts of normal female reproductive system and any failure in ductal fusion may result in to müllerian duct anomalies (MDA). We present a case of MDA and a uterus dysplasia with no evidence of cervical or upper vaginal tissue. This case showes the role of magnetic resonace imaging (MRI) on MDA diagnosis and urges the need for a unified reliable and practical classification more compatible with clinical practice.
January 2018: International Journal of Fertility & Sterility
Karina Kapczuk, Zbigniew Friebe, Kinga Iwaniec, Witold Kędzia
STUDY OBJECTIVE: To assess the clinical course of obstructive Müllerian anomalies found in girls after menarche. DESIGN: A retrospective case series of adolescents who, between 2009 and 2016, were treated for vaginal or uterine obstructive malformations diagnosed after menarche. SETTING: Division of Gynecology, Poznań University of Medical Sciences, Poznań, Poland. PARTICIPANTS AND INTERVENTIONS: Twenty-two patients who, at the age range between 11...
October 10, 2017: Journal of Pediatric and Adolescent Gynecology
Takeru Fukunaga, Shinya Fujii, Chie Inoue, Naoko Mukuda, Atsushi Murakami, Yoshio Tanabe, Tasuku Harada, Toshihide Ogawa
Müllerian duct anomalies (MDAs) are the result of incomplete development, vertical or lateral fusion, or absorption of the müllerian ducts. The range of anomalies includes uterovaginal agenesis or hypoplasia, unicornuate uterus, uterus didelphys, bicornuate uterus, septate uterus, and arcuate uterus. Correct diagnosis and classification of these anomalies are essential because pregnancy outcomes and treatment options vary between the types of anomaly. Furthermore, early identification of MDAs helps to avoid prolonged symptomatic periods and the complications that may subsequently arise, such as infertility, endometriosis, and neoplasm...
December 2017: Japanese Journal of Radiology
Abdulmajeed AlSubaihin, John VanderMeulen, Kate Harris, John Duck, Elizabeth McCready
BACKGROUND: Although Müllerian agenesis is the second most common cause of primary amenorrhea the underlying etiology in most cases is unknown. Müllerian agenesis has been reported as a rare finding associated with chromosomal aberrations of the 22q11 chromosomal region including at least 1 individual with cat eye syndrome (CES) and 10 individuals with deletions or duplications of the 22q11.2 region. However, a potential link between 22q11 abnormalities and uterine malformations has been difficult to adequately ascertain because of the limited case reports in the literature...
September 14, 2017: Journal of Pediatric and Adolescent Gynecology
Kate C Arnold, Theresa C Thai, LaTasha B Craig
BACKGROUND: Isolated uterine didelphys requires no treatment in contrast to cervical agenesis, which requires a hysterectomy. Given this, correct diagnosis of Müllerian anomalies is paramount for making recommendations for patient care. CASE: A 15-year-old presented to clinic with pelvic pain and primary amenorrhea. Uterine didelphys with bilateral cervical agenesis was diagnosed by imaging. Hysterectomy was recommended and diagnosis was confirmed at surgery and by anatomic pathology...
August 11, 2017: Journal of Pediatric and Adolescent Gynecology
Eun Jung Jung, Moon Hyeong Cho, Da Hyun Kim, Jung Mi Byun, Young Nam Kim, Dae Hoon Jeong, Moon Su Sung, Ki Tae Kim, Kyung Bok Lee
Herlyn-Werner-Wunderlich syndrome is a rare congenital anomaly of the urogenital tract, which is characterized by the triad of uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. It usually presents at puberty with pelvic pain, dysmenorrhea, and a vaginal or pelvic mass. Although rare, it may present with purulent vaginal discharge due to secondary infection of the obstructed hemivagina, making diagnosis difficult. A careful pelvic examination to identify the cervix and vagina is the key to the diagnosis of Müllerian duct anomalies and magnetic resonance imaging can provide additional useful information...
July 2017: Obstetrics & Gynecology Science
Maja Raicevic, Amulya Kumar Saxena
BACKGROUND: This study performed a literature analysis to determine outcomes of laparoscopic management in Müllerian duct remnants (MDRs). PATIENTS AND METHODS: Literature was searched for terms 'Müllerian' 'duct' 'remnants' and 'laparoscopy'. Primary end points were age at surgery, laparoscopic technique, intraoperative complications and postoperative morbidity. RESULTS: The search revealed 10 articles (2003-2014) and included 23 patients with mean age of 1...
August 1, 2017: Journal of Minimal Access Surgery
Ameya Padmawar, Rizwana Syed, Suyash Naval
STUDY OBJECTIVE: To demonstrate possibility of an innovative surgery for management of cervical agenesis. DESIGN: Step wise description of laparoscopic uterovaginal anastomosis. SETTING: Isolated cervical agenesis occurs in 1 in 80000 to 100000 births. According to the American Fertility Society, cervical agenesis should be classified as a type Ib müllerian anomaly. According to ESHRE/ESGE classification, it is classified in class C4 category...
July 24, 2017: Journal of Minimally Invasive Gynecology
Anne-Marie Amies Oelschlager, Anna Kirby, Lesley Breech
PURPOSE OF REVIEW: Indications for vaginoplasty include congenital conditions such as adrenal hyperplasia, cloacal malformations, and Müllerian agenesis, acquired conditions including stenosis from radiation or surgical resection for malignancy, and gender affirmation. All vaginoplasty techniques carry significant risk of both immediate and long-term complications. RECENT FINDINGS: The purpose of this study is to provide a review of the evaluation and management of the neovagina, addressing management of human papilloma virus infections and complications including stenosis, fistula, prolapse, and neovaginal colitis...
October 2017: Current Opinion in Obstetrics & Gynecology
Fatemeh Zafarani, Firoozeh Ahmadi, Gholam Shahrzad
Cervical abnormalities may be congenital or acquired. Congenital anomalies of the cervix are rarely isolated, and more commonly accompany other uterine anomalies. Various imaging tools have been used in the assessment of Müllerian duct anomalies (MDAs). Currently, magnetic resonance imaging (MRI) is the modality of choice for definitive diagnosis and classification of these MDAs. Hysterosalpingography is a basic tool for evaluation of infertility and allows us to detect a spectrum of anatomical malformations of the utero-cervix in the setting of MDAs...
July 2017: International Journal of Fertility & Sterility
Bala Bhagavath, Greiner Ellie, Kara M Griffiths, Tom Winter, Snigdha Alur-Gupta, Carter Richardson, Steven R Lindheim
Importance: The prevalence of uterine malformations has been reported in up to 7% of the general population and 18% of those with recurrent pregnancy loss. The diagnosis, classification, management, and outcome of the management have been subject to debate for decades. Objective: The aim of this article is to summarize the current knowledge regarding the genetics of müllerian anomalies, the varied classification schemes, the appropriate diagnostic modalities, the surgical methods, and the obstetric outcomes related to these surgical methods...
June 2017: Obstetrical & Gynecological Survey
Mariarosaria Campise, Mariano Ferraresso, Evaldo Favi, Claudio Beretta, Caterina Colico, Piergiorgio Messa
Mayer-Rokitansky-Küster-Hauser syndrome is a rare disorder consisting of vaginal aplasia and other müllerian duct abnormalities. Urinary tract malfor-mations possibly leading to renal failure are also common. For these patients, kidney transplant remains the best option. However, aberrant anatomy and scarring from previous operations may actually preclude successful implantation of the graft. In this setting, careful pretransplant evaluation with high-resolution imaging studies and multidisciplinary planning are mandatory...
May 22, 2017: Experimental and Clinical Transplantation
Bethany Skinner, Elisabeth H Quint
Müllerian anomalies include a spectrum of anatomic variants of the genital tract arising from abnormal embryologic development, ranging from incomplete resorption of uterine septa to complete vaginal agenesis. Nonobstructive anomalies are often recognized later than obstructive anomalies, because women do not present with pain. However, nonobstructive anomalies frequently have a negative impact on sexual and reproductive health, and careful evaluation and management of these disorders is warranted. This review focuses on the surgical management of nonobstructive Müllerian anomalies...
May 9, 2017: Journal of Minimally Invasive Gynecology
Maria Uloko, Elizabeth Bearrick, Joshua Bodie
Müllerian-duct aplasia, renal agenesis, and cervical somite dysplasia (MURCS) is a rare genetic disorder. Previously thought to be exclusive in females, there have now been a small number of case reports describing a male analogue. We describe a patient with obstructive azoospermia and Klippel-Feil anomaly.
July 2017: Urology Case Reports
Aurus Dourado Meneses, Walberto Monteiro Neiva Eulálio Filho, Débora Maria Ribeiro Raulino, Eduardo Bruno Lobato Martins, Sabas Carlos Vieira
Herlyn-Werner-Wunderlich (HWW) syndrome is part of a spectrum of Müllerian duct anomalies that occur during embryonic development. The syndrome is characterized by uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. Only few cases of this disease were reported worldwide. We present a 23-year-old female patient with chronic pelvic pain for years. The patient was diagnosed with HWW syndrome with a history of hematocolpos and vaginoplasty at the age of 12. Five months later, she sought urgent medical care due to intense pain, and a clinical picture suggestive of peritoneal irritation...
March 2017: Oman Medical Journal
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