1,085 results match your criteria Uterus Mullerian Duct Abnormalities


Robot-assisted laparoscopic hysterectomy for endometrial cancer in a patient with Herlyn-Werner-Wunderlich syndrome.

BMJ Case Rep 2021 May 19;14(5). Epub 2021 May 19.

Seirei Hamamatsu General Hospital, Hamamatsu, Japan.

Herlyn-Werner-Wunderlich syndrome, a rare Mullerian duct anomaly, includes a triad of uterine didelphys, obstructed haemivagina and ipsilateral renal agenesis. A 58-year-old woman with Herlyn-Werner-Wunderlich syndrome, reported of recurrent genital bleeding for 9 years, was finally diagnosed with endometrial cancer. She had a history of vaginal septum resection and nephrectomy of atrophic right kidney. Read More

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A retrospective analysis of female Müllerian duct anomalies in association with congenital renal abnormalities.

J Pediatr Adolesc Gynecol 2021 May 12. Epub 2021 May 12.

Department of Pediatric Urology, Wilhelmina Children's Hospital UMC Utrecht, Utrecht, The Netherlands; Department of Pediatric Urology and Andrology, Sechenov Moscow State Medical University, Moscow, Russia.

Study Objective: Müllerian (paramesonephric) duct anomalies (MDAs) are associated with several coexisting congenital abnormalities, including renal abnormalities. Although congenital renal abnormalities may remain asymptomatic, the consequences should not be underestimated. In both the literature and clinical practice, it remains necessary to improve awareness of the co-occurrence of different congenital renal abnormalities in women with MDAs. Read More

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Incidental Finding of Leiomyoma in Mayer-Rokitansky-Kuster-Hauser Syndrome.

J Investig Med High Impact Case Rep 2021 Jan-Dec;9:23247096211014690

Howard University Hospital, Washington, DC, USA.

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a sexual developmental disorder. In this disorder, there is a congenital absence of the uterus and vagina with normal external genitalia. The etiology is not well understood. Read More

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Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report.

J Med Case Rep 2021 Apr 21;15(1):208. Epub 2021 Apr 21.

Department of Medical Genetics, 'G. D'Annunzio' University, Chieti, Italy.

Background: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (Online Mendelian Inheritance in Man [OMIM] #277000) is a congenital condition characterized by the total or partial agenesis of vagina and uterus. Agenesis can be isolated (MRKH 1) or associated with other renal, vertebral or cardiac defects (MRKH 2).

Case Presentation: In this paper, we report a case of a Caucasian patient showing the clinical signs associated with MRKH. Read More

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Vaginal bleeding in a misdiagnosed Mayer-Rokitansky-Küster-Hauser syndrome.

BMJ Case Rep 2021 Apr 5;14(4). Epub 2021 Apr 5.

Department of Pediatric Endocrine, Parc Tauli Foundation-UAB University Institute, Sabadell, Catalunya, Spain

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, a spectrum of anomalies arising from incomplete development of the Müllerian ducts, is characterised by congenital aplasia of the uterus and upper part of the vagina, often in the absence of other phenotypical abnormalities. We report the case of a 13-year-old girl referred to our endocrinology unit after an incidental finding of uterine agenesis during laparoscopy to correct suspected ovarian torsion. Initial transabdominal ultrasonography found no uterus. Read More

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Mechanistic Drivers of Müllerian Duct Development and Differentiation Into the Oviduct.

Front Cell Dev Biol 2021 8;9:605301. Epub 2021 Mar 8.

MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.

The conduits of life; the animal oviducts and human fallopian tubes are of paramount importance for reproduction in amniotes. They connect the ovary with the uterus and are essential for fertility. They provide the appropriate environment for gamete maintenance, fertilization and preimplantation embryonic development. Read More

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Herlyn-Werner-Wunderlich (HWW) syndrome with kyphoscoliosis: a rare urogenital anomaly in a teenage girl.

BMJ Case Rep 2021 Mar 22;14(3). Epub 2021 Mar 22.

Radio diagnosis, AIIMS Jodphur, Jodhpur, Rajasthan, India.

The obstructed haemivagina with ipsilateral renal agenesis (OHVIRA) syndrome also known as Herlyn-Werner-Wunderlich syndrome, a rare congenital malformation in females, results due to developmental abnormality in the müllerian duct. We are reporting a case of a 14-year-old girl who presented with pain and a lump in abdomen for the last 5 months. The MRI abdomen and pelvis confirmed the diagnosis of OHVIRA syndrome. Read More

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Herlyn-Werner-Wunderlich syndrome: clinical considerations and management.

BMJ Case Rep 2021 Mar 4;14(3). Epub 2021 Mar 4.

School of Medicine, PUCPR, Curitiba, PR, Brazil.

Herlyn-Werner-Wunderlich syndrome (HWWS), defined by the triad of uterus didelphys, obstructed hemivagina and ipsilateral renal agenesis, is a rare Mullerian duct malformation, usually diagnosed after menarche, when symptoms related to haematocolpos arise. We report a case of a 14-year-old patient who presented to the emergency department complaining of proctalgia and pelvic pain treated in our medical centre. Ultrasound and abdomino-pelvic MRI imaging studies confirmed the diagnosis. Read More

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An unprecedented occult non-communicating rudimentary uterine horn treated with laparoscopic excision and preservation of both fallopian tubes: a case report and review of the literature.

J Med Case Rep 2021 Feb 4;15(1):51. Epub 2021 Feb 4.

Department of Obstetrics and Gynecology, University Hospitals Schleswig Holstein, Campus Kiel, Kiel, Germany.

Background: Müllerian duct anomalies are congenital malformations of the female genital tract and may be of various types. For decades they have been classified according to the American Society of Reproductive Medicine, which mentions unicornuate uterine malformations as the second subgroup. They result from the arrested development of one of the Müllerian ducts and appear in approximately 1/1000 women. Read More

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February 2021

Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer-Rokitansky-Küster-Hauser Syndrome.

Hum Genet 2021 Apr 19;140(4):667-680. Epub 2021 Jan 19.

Section of Reproductive Endocrinology, Infertility, and Genetics, Department of Obstetrics and Gynecology, Neuroscience Program, Medical College of Georgia, Augusta University, Augusta, GA, 30912, USA.

Purpose: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome consists of congenital absence of the uterus and vagina and is often associated with renal, skeletal, cardiac, and auditory defects. The genetic basis is largely unknown except for rare variants in several genes. Many candidate genes have been suggested by mouse models and human studies. Read More

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Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.

Am J Hum Genet 2021 02;108(2):337-345

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is associated with congenital absence of the uterus, cervix, and the upper part of the vagina; it is a sex-limited trait. Disrupted development of the Müllerian ducts (MD)/Wölffian ducts (WD) through multifactorial mechanisms has been proposed to underlie MRKHS. In this study, exome sequencing (ES) was performed on a Chinese discovery cohort (442 affected subjects and 941 female control subjects) and a replication MRKHS cohort (150 affected subjects of mixed ethnicity from North America, South America, and Europe). Read More

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February 2021

Twelve Live Births After Uterus Transplantation in the Dallas UtErus Transplant Study.

Obstet Gynecol 2021 02;137(2):241-249

Annette C. and Harold C. Simmons Transplant Institute, the Fertility Center of Dallas, the Department of Obstetrics and Gynecology, and the Department of Neonatology, Baylor University Medical Center, and the Fetal Care Center, Dallas, Texas; and the Department of Obstetrics and Gynecology, PRISMA Health-University of South Carolina School of Medicine, Columbia, South Carolina.

Objective: To describe aggregated pregnancy outcomes after uterus transplantation from a single, experienced center.

Methods: This prospective study reports on live births among 20 women who received a uterus transplant from 2016 to 2019 at Baylor University Medical Center at Dallas. These live births occurred between November 2017 and September 2020. Read More

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February 2021

Evaluation and Management of Unexpected Functional Rudimentary Uteri in Mayer-Rokitansky-Küster-Hauser Syndrome of Chinese Women.

Biomed Res Int 2020 24;2020:6808409. Epub 2020 Nov 24.

Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, National Clinical Research Center for Obstetrical and Gynecological Diseases, Beijing, China.

Objective: To elucidate the characteristics of symptomatic attack of rudimentary uteri in MRKH syndrome and highlight the rare and unexpected possibilities.

Methods: A cohort of 202 Chinese MRKH syndrome patients admitted to the Peking Union Medical College Hospital from Jan 2009 to Dec 2016 was analyzed retrospectively. Based on the symptoms of abdominal pain before vaginoplasty, the patients were categorized into the asymptomatic and symptomatic groups. Read More

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Complex Abdominal Pain in an Adolescent Female with a Mullerian Duct Anomaly: A Case Report.

S D Med 2020 Oct;73(10):442-447

Department of Obstetrics and Gynecology, University of South Dakota Sanford School of Medicine, Sioux Falls, South Dakota.

Uterine malformations occur early in embryogenesis due to abnormalities in development of paramesonephric (Mullerian) ducts. Mullerian duct anomalies can range from complete agenesis of the uterus to nonpathological variants (e.g. Read More

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October 2020

The Missing Uterus, the Missed Diagnosis, and the Missing Care. Mayer-Rokitansky-Küster-Hauser Syndrome in the Lives of Women in Malaysia.

J Pediatr Adolesc Gynecol 2021 Apr 13;34(2):161-167. Epub 2020 Nov 13.

Department of Gynaecology, Royal Children Hospital Melbourne, Melbourne, Australia.

Study Objective: To explore the effect of the diagnosis of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome on affected Malaysian women.

Design: Qualitative study with a quantitative component.

Setting: Pediatric and adolescent gynecology unit at Universiti Kebangsaan Malaysia Medical Centre, Malaysia. Read More

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Müllerian duct anomalies with term pregnancy: a case report.

J Med Case Rep 2020 Nov 2;14(1):209. Epub 2020 Nov 2.

Department of Obstetrics & Gynaecology, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan, 16150, Malaysia.

Background: Müllerian duct anomaly is a rare condition. Many cases remain unidentified, especially if asymptomatic. Thus, it is difficult to determine the actual incidence. Read More

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November 2020

An Unusual Case of Testicular Disorder in Sex Development of Arabian Mare (64,XX -Negative).

Animals (Basel) 2020 Oct 25;10(11). Epub 2020 Oct 25.

Department of Veterinary Sciences, University of Messina, Polo Universitario Annunziata, 98168 Messina, Italy.

A 3-year-old Arabian mare underwent medical examinations due to the presence of abnormalities of the reproductive apparatus and stallion behavior (nervous temperament, aggressiveness, masculine attitude). During the clinical visit, an anovulvar distance shorter than normal was observed; moreover, vulvar lips were dorsally fused except for the lower neckline, showing a blind ending from which a penis-like structure protruded. The ultrasound examination revealed the presence of a cervix and corpus of a uterus, hypoplastic uterine horns, and small gonads with an echogenicity similar to a testis. Read More

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October 2020

Report of the first live birth after uterus transplantation in People's Republic of China.

Fertil Steril 2020 11 6;114(5):1108-1115. Epub 2020 Oct 6.

Department of Obstetrics and Gynecology, The First Affiliated Hospital of the Air Force Medical University (Xijing Hospital), Xi'an, People's Republic of China.

Objective: To present the first live birth after uterine transplantation (UTx) in the People's Republic of China.

Design: Case study.

Setting: University hospital. Read More

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November 2020

Full-term pregnancy in a rudimentary horn with a live fetus: A case report.

Medicine (Baltimore) 2020 Aug;99(34):e21604

Department of Obstetrics and Gynecology, Qilu Hospital, Cheeloo College of Medcine, Shandong University, Jinan, Shandong, China.

Introduction: Rudimentary horns and unicornuate uteri, 2 types of Mullerian duct abnormalities, often lack obvious symptoms. Ultrasonography (US) and magnetic resonance imaging (MRI) are alternative examinations but have low accuracy. Full-term rudimentary horn pregnancies are rather rare but life-threatening. Read More

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Diagnosis and Surgical Treatment of Uterine Isthmus Atresia: A Case Report and Review of the Literature.

J Minim Invasive Gynecol 2021 01 22;28(1):137-141. Epub 2020 Aug 22.

Department of Gynecology, Clinical Institute of Gynecology, Obstetrics, and Neonatology, Hospital Clinic of Barcelona, Faculty of Medicine, University of Barcelona, Barcelona, Spain (all authors). Electronic address:

Uterine isthmus atresia is a rare Müllerian duct anomaly occasionally diagnosed in adolescents with primary amenorrhea and cyclic abdominal pain. A case is presented of a 14-year-old female with monthly cyclic lower abdominal pain of a 2-year duration. Magnetic resonance imaging and 3-dimensional ultrasound showed separation of a 10-mm fibrotic tissue between the cervical canal and the endometrial cavity. Read More

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January 2021

Symptomatic Imperforate Hymen in Early Infancy: A Case Report.

JNMA J Nepal Med Assoc 2020 Jun 30;58(226):433-435. Epub 2020 Jun 30.

Department of Radiology, Norvic International Hospital, Thapathali, Kathmandu, Nepal.

Imperforate hymen, though a congenital anomaly, usually presents late in puberty as lower abdominal pain, primary amenorrhea, and cyclical pain. Blood collects in vagina and uterus, proximal to imperforate hymen leading to their distention. Its presentation at infancy is a rare entity. Read More

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Rudimentary Horn Pregnancy Diagnosed after Laparotomy.

Case Rep Obstet Gynecol 2020 23;2020:5816487. Epub 2020 Jul 23.

School of Public and Environmental Health, College of Medicine and Health Sciences, Hawassa University, Hawassa, Ethiopia.

Müllerian abnormalities are present in 0.17% of fertile women and 3.5% of infertile women, and a unicornuate uterus is observed in 0. Read More

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A Case of Mayer-Rokitansky-Küster-Hauser Syndrome Diagnosed in Infancy after Evaluation of Palpable Gonads.

J Pediatr Adolesc Gynecol 2020 Dec 28;33(6):733-734. Epub 2020 Jul 28.

Division of Endocrinology, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD. Electronic address:

Background: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is defined as incomplete development of Müllerian structures (uterus, fallopian tubes, proximal vagina) in an otherwise phenotypic female individual. MRKH syndrome typically presents in adolescence with primary amenorrhea, but has been diagnosed in younger patients who present with other associated abnormalities, most commonly renal and skeletal.

Case: Here we describe a 46,XX female infant with prenatally diagnosed renal anomalies who was found to have bilateral inguinal ovarian hernias at 1 month of age. Read More

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December 2020

Congenital uterovaginal abnormalities, it's embryogenesis, surgical management and clinical implications.

Obstet Gynecol Sci 2020 Sep 30;63(5):655-659. Epub 2020 Jul 30.

Department of Obstetrics and Gynaecology, Princess Marine Hospital, Gaborone, Botswana.

Objective: Congenital Mullerian duct malformations are a challenging group of conditions for surgeons and need surgical experience and skill. Accordingly, the aim of this study is to present the diagnosis, surgical management, and clinical implications of congenital uterovaginal abnormalities.

Methods: Between 1980 and 2015, 8 patients with congenital uterovaginal abnormalities were diagnosed. Read More

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September 2020

A Mayer-Rokitansky-Kuster-Hauser patient with leiomyoma and dysplasia of neovagina: a case report.

BMC Womens Health 2020 07 28;20(1):157. Epub 2020 Jul 28.

Department of Obstetrics and Gynecology, Turku University Hospital and University of Turku, PL 52, 20521, Turku, Finland.

Background: Most patients with congenital uterus and vaginal aplasia (i.e., Mayer-Rokitansky-Kuster-Hauser [MRKH] syndrome) have rudimentary pelvic uterine structures that contain smooth muscle. Read More

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From Engulfment to Enrichment: Associations Between Illness Representations, Self-Concept, and Psychological Adjustment in Mayer-Rokitansky-Küster-Hauser Syndrome.

J Pediatr Adolesc Gynecol 2020 Dec 18;33(6):639-648. Epub 2020 Jul 18.

Psychology Department, Institute of Psychiatry, Psychology & Neuroscience at King's College London, London, UK.

Study Objective: Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is a female reproductive disorder characterized by the absence or underdevelopment of the uterus, cervix and vagina. Limited research has examined factors related to psychological adjustment in MRKH. This study aimed to explore associations among illness representations, self-concept, psychological distress, and self-esteem in MRKH. Read More

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December 2020

Persistent Mullerian duct syndrome: rare presentation in an elderly man.

BMJ Case Rep 2020 Jul 16;13(7). Epub 2020 Jul 16.

Department of Urology, Sri Ramachandra Medical College and Research Institute, Chennai, Tamil Nadu, India.

Persistent Mullerian duct syndrome has been described as a disease of internal male pseudohermaphroditism, a rare autosomal recessive disease, characterised by persistent Mullerian derivatives in patients with male pattern 46, XY karyotype and normal pattern virilisation. We present a case of an elderly man, who on evaluation for bilateral undescended testes was found to have a pelvic mass suggestive of malignant transformation of an undescended testis on imaging. On surgical exploration, uterus with multiple fibroids, bilateral fallopian tubes, cervix and bilateral atrophic testes were identified. Read More

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Vaginal Reconstruction in Patients with Mayer-Rokitansky-Küster-Hauser Syndrome-One Centre Experience.

Medicina (Kaunas) 2020 Jul 1;56(7). Epub 2020 Jul 1.

Department of Plastic and Reconstructive Surgery, "Prof. Dr. Agrippa Ionescu" Clinical Emergency Hospital, 011356 Bucharest, Romania.

The Mayer-Rokitansky-Küster-Hauser syndrome is a congenital condition in which patients are born with vaginal and uterus agenesis, affecting the ability to have a normal sexual life and to bear children. Vaginal reconstruction is a challenging procedure for plastic surgeons. The aim of this study is to report our experience in the management of twelve patients with congenital absence of the vagina due to the MRKH syndrome. Read More

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Rare genital malformations in women's health research: sociodemographic, regional, and disease-related characteristics of patients with Mayer-Rokitansky-Küster-Hauser syndrome.

BMC Womens Health 2020 06 29;20(1):135. Epub 2020 Jun 29.

University Hospital Tübingen, Department of Women's Health, Tübingen, Germany.

Background: The Mayer-Rokitansky-Küster-Hauser syndrome, MRKHS, is a rare (orphan) disease characterized by the aplasia or hypoplasia of the uterus and the vagina. In women's health research, little is known as to how much care provision for patients with MRKHS takes into account their socio-demographic together with their clinical characteristics. This work examines the patients' socio-demographic characteristics, highlighting issues of inappropriate and deficient provision of care. Read More

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Lessons learned from the Czech uterus transplant trial related to surgical technique that may affect reproductive success.

Aust N Z J Obstet Gynaecol 2020 08 23;60(4):625-627. Epub 2020 Jun 23.

Department of Obstetrics and Gynaecology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.

Uterus transplantation is an experimental method in the treatment of infertility in women with congenital or acquired absence of uterus. The majority of uterus transplants worldwide have been performed in women with Mayer-Rokitansky-Küster-Hauser syndrome, with neovagina and absent uterus. We report two aspects affecting reproductive success related to the surgical technique of transplantation. Read More

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