2,013 results match your criteria Mullerian Duct Anomalies

High-grade cervical dysplasia in a woman with uterine didelphys: A case report.

Gynecol Oncol Rep 2022 Aug 17;42:101027. Epub 2022 Jun 17.

NN Alexandrov National Cancer Centre, Minsk, Belarus.

The combination of lower genital tract carcinomas with genitourinary malformations is a rare occurrence. The purpose of this report is to describe the case of high-grade cervical dysplasia of the left cervix of a woman with a uterine didelphys and additional urinary tract malformations. Read More

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Obstructed Hemivagina and Ipsilateral Renal Agenesis Syndrome: A Case Report.

JNMA J Nepal Med Assoc 2022 Jun 1;60(250):562-564. Epub 2022 Jun 1.

Department of Obstetrics and Gynaecology, Bharatpur Hospital, Chitwan, Nepal.

Obstructed hemivagina and ipsilateral renal anomaly syndrome also known as Herlyn-Werner-Wunderlich syndrome is a rare congenital urogenital anomaly characterised by Mullerian duct anomalies associated with mesonephric duct anomalies. A 10-year old female presented with acute lower abdominal pain, urinary retention and scanty menstrual flow during her first menstruation. Ultrasonography and contrast computed tomography showed uterine didelphys, hematocolpos, obstructed hemivagina and left renal agenesis. Read More

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Treatment of Urethral Intercourse and Impact on Female Sexual Function.

Sex Med 2022 May 26;10(4):100534. Epub 2022 May 26.

Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Background: Urethral intercourse is a very rare entity which usually presents as urinary incontinence during and after intercourse and is most commonly seen in patients with vaginal agenesis (Mayer-Rokitansky-Hauser Syndrome) or hypoplasia, or other rear vaginal anomalies.

Aim: To evaluate management and outcomes for vaginal and urethral consequences of urethral intercourse, including urinary incontinence.

Methods: Between February 2006 and March 2021, 8 women aged from 17 to 22 years underwent genital and urethral reconstruction due to consequences of urethral sexual intercourse. Read More

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Laparoscopic Oocyte Retrieval and Cryopreservation during Vaginoplasty for Treatment of Mayer-Rokitansky-Kuster-Hauser Syndrome.

J Vis Exp 2022 05 10(183). Epub 2022 May 10.

Obstetrics and Gynaecology Unit, IRCCS San Raffaele Scientific Institute; Vita-Salute San Raffaele University.

In Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKHS) patients who are scheduled for laparoscopic vaginoplasty and have a desire for biological motherhood, we propose that a concomitant laparoscopic oocyte retrieval for cryopreservation is performed. Oocyte retrieval is pursued at the beginning of the laparoscopy. Right and left 5 mm trocars are positioned, through which a 17 G ovum aspiration needle is used for puncture of the right and left ovaries, respectively. Read More

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Robert's uterus (asymmetric septate uterus): a rare congenital Müllerian duct anomaly.

BMJ Case Rep 2022 May 6;15(5). Epub 2022 May 6.

Department of Fetal Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, UK.

Müllerian anomalies such as Robert's uterus, which was first described by the French gynaecologist Dr Helene Robert in 1969, are rare clinical entities and have been reported in <3% of the female population. Robert's uterus is a rare phenomenon with a relative dearth of reported cases. Affected individuals may present with pelvic pain and dysmenorrhoea that intensifies near menses or acutely, with severe abdominal pain to the emergency department. Read More

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NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy.

Paul R Mark

Am J Med Genet A 2022 Apr 29. Epub 2022 Apr 29.

Department of Pediatrics, Division of Medical Genetics, Helen DeVos Children's Hospital, Spectrum Health, Grand Rapids, Michigan, USA.

Pleiotropy is defined as the phenomenon of a single gene locus influencing two or more distinct phenotypic traits. However, nicotinamide adenine dinucleotide (NAD+) deficiency through diet alone can cause multiple or single malformations in mice. Additionally, humans with decreased NAD+ production due to changes in pathway genes display similar malformations. Read More

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An Association between EMX2 Variations and Mayer-Rokitansky-Küster-Hauser Syndrome: A Case-Control Study of Chinese Women.

J Healthc Eng 2022 13;2022:9975369. Epub 2022 Apr 13.

Department of Obstetrics and Gynecology, The First Affiliated Hospital of Jinan University, Guangzhou, Guangdong 511442, China.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital malformations of Müllerian structures, including the uterus and upper two-thirds of the vagina in women. Until now, the etiology of this disease has remained unknown. We hypothesized that EMX2 (the human homologue of empty spiracles gene (2) might be a candidate gene for MRKH syndrome because it plays an important role in the development of the urogenital system. Read More

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Herlyn-Werner-Wunderlich syndrome: A case report in a young woman, with literature review.

Radiol Case Rep 2022 Jun 8;17(6):1991-1995. Epub 2022 Apr 8.

Department of Radiology, Centro Hospitalar Universitário de São João, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal.

Herlyn-Werner-Wunderlich syndrome is a rare complex congenital disorder, with combined Müllerian and mesonephric duct anomalies, presenting with uterus didelphys, unilateral blind hemivagina and ipsilateral renal agenesis. Hemivaginal obstruction usually leads to impairment of normal menstrual flow, resulting in symptoms after menarche, namely dysmenorrhea, pelvic pain or infertility. Age of presentation depends on the anatomical features of this anomaly. Read More

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Endometrial organoids derived from Mayer-Rokitansky-Küster-Hauser syndrome patients provide insights into disease-causing pathways.

Dis Model Mech 2022 05 10;15(5). Epub 2022 May 10.

Research Institute for Women's Health, University of Tübingen, 72076 Tübingen, Germany.

The uterus is responsible for the nourishment and mechanical protection of the developing embryo and fetus and is an essential part in mammalian reproduction. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by agenesis of the uterus and upper part of the vagina in females with normal ovarian function. Although heavily studied, the cause of the disease is still enigmatic. Read More

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Tubal pregnancy in a case of unicornuate uterus with contralateral streak ovary and renal agenesis: A case report.

Case Rep Womens Health 2022 Apr 29;34:e00407. Epub 2022 Mar 29.

Department of Obstetrics and Gynecology, University of Nebraska Medical Center, Omaha, NE, USA.

A 24-year-old woman presented to the emergency department with symptoms consistent with an ectopic pregnancy. Ultrasonographic evaluation reported no evidence of intrauterine pregnancy, a heterogenous mass in the left adnexa, and normal-appearing bilateral ovaries. The right kidney was imaged, though the left kidney was not visualized. Read More

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A "cluster" of ten uterine anomalies observed in a single center over a short period of 4 weeks: a case series.

J Med Case Rep 2022 Apr 2;16(1):130. Epub 2022 Apr 2.

Department of Obstetrics and Gynaecology, Karnataka Institute of Medical Sciences (KIMS), Hubli, Karnataka, India.

Background: Uterine anomalies occur because of Müllerian duct maldevelopment. Few of them are associated with adverse obstetric outcome (Reyes-Muñoz et al. in Diagnostics. Read More

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Variants in genes related to development of the urinary system are associated with Mayer-Rokitansky-Küster-Hauser syndrome.

Hum Genomics 2022 Mar 31;16(1):10. Epub 2022 Mar 31.

Department of Gynecological Oncology, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Dongcheng, Beijing, 100006, China.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian agenesis, is characterized by uterovaginal aplasia in an otherwise phenotypically normal female with a normal 46,XX karyotype. Previous studies have associated sequence variants of PAX8, TBX6, GEN1, WNT4, WNT9B, BMP4, BMP7, HOXA10, EMX2, LHX1, GREB1L, LAMC1, and other genes with MRKH syndrome. The purpose of this study was to identify the novel genetic causes of MRKH syndrome. Read More

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Diagnosis of Congenital Uterine Abnormalities: Practical Considerations.

J Clin Med 2022 Feb 25;11(5). Epub 2022 Feb 25.

St. George's Hospital, London SW17 0QT, UK.

As most congenital uterine abnormalities are asymptomatic, the majority of them are detected incidentally. While most women with uterine anomalies have a normal reproductive outcome, some may experience adverse reproductive outcomes. Accurate diagnosis and correct classification help in the appropriate counselling of women about their potential reproductive prognosis and risks and for planning any intervention. Read More

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February 2022

The Herlyn-Werner-Wunderlich (HWW) syndrome - A case report with radiological review.

Radiol Case Rep 2022 May 2;17(5):1435-1439. Epub 2022 Mar 2.

Department of Radiology, Sir Ganga Ram Hospital, Lahore, Pakistan.

Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital anomaly of female urogenital tract involving combined mullerian duct anomalies and mesonephric duct malformation characterized by uterus didelphys, obstructed hemi-vagina and ipsilateral renal agenesis which is also known as OHVIRA syndrome. It can be classified based on a completely or incompletely obstructed hemivagina. It presents soon after menarche or shows delayed presentation depending on the type. Read More

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[Mayer-Rokitansky-Küster-Hauser syndrome: a cause of primary amenorrhea: about a case].

Pan Afr Med J 2021 23;40:260. Epub 2021 Dec 23.

Service de Radiologie, Hôpital d'Instruction Militaire Rabat, Rabat, Maroc.

Mayer-Rokitansky -Küster -Hauser syndrome (MRKH) is a rare cause of primary amenorrhea. It is defined as congenital aplasia of the uterus and of the upper two thirds of the vagina in women with normal development of secondary sexual characteristics. Diagnosis is essentially based on magnetic resonance imaging (MRI). Read More

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Duplex Collecting System with Ectopic Ureters Opening into Vagina: A Case Report.

JNMA J Nepal Med Assoc 2022 Feb 15;60(246):204-206. Epub 2022 Feb 15.

Department of Surgery, Kanti Children's Hospital, Maharajgunj, Kathmandu, Nepal.

Continuous urinary leakage, along with normal deliberate voiding, must suggest diagnosis of ectopic ureter, specifically in girls. Combination of a duplicated collecting system with distal, infra-sphincteric, vaginal insertion of ureter is an uncommon congenital anomaly and rare cause of urinary incontinence. We present a case report of a 7-year-old girl who presented to the urology department with urinary incontinence despite successful toilet training and history of recurrent urinary tract infections. Read More

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February 2022

Prevalence and Pregnancy Outcome of Mullerian Anomalies in Infertile Women: A Retrospective Study.

J Hum Reprod Sci 2021 Oct-Dec;14(4):431-435. Epub 2021 Dec 31.

Department of Obstetrics and Gynaecology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Background: Uterine anomalies arise if there is agenesis of one or two mullerian ducts, or absence of fusion or reabsorption of the septum between these ducts. The process may be partial or total and affect one or multiple parts of the tract.

Aims: This study was done to assess the distribution of various types of mullerian anomalies in infertile women, their classification based on ESHRE and AFS, associated anomalies, types of diagnostic modalities used, surgical interventions done(if any), various types of infertility treatment used and their outcomes. Read More

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December 2021

Creation and maintenance of neo-vagina with the use of vaginal dilators as first line treatment: Results from a quaternary paediatric and adolescent gynaecology service in Australia.

Aust N Z J Obstet Gynaecol 2022 Jun 18;62(3):439-444. Epub 2022 Feb 18.

Royal Brisbane and Women's Hospital, Women's and Newborns Services, Brisbane, Queensland, Australia.

Background: Vaginal agenesis is an uncommon condition with an estimated incidence of 1/5000 live female births. There are surgical and non-surgical treatment options for neo-vagina creation. Vaginal dilatation has been used to treat vaginal agenesis for over 80 years, but outcome data to date have had poor definitions for 'success'. Read More

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Herlyn-Werner-Wunderlich syndromne: case review and report of the literature

Rev Colomb Obstet Ginecol 2021 12 30;72(4):407-422. Epub 2021 Dec 30.

Docente de la Universidad Militar Nueva Granada, Bogotá (Colombia)..

Objective: To report a case of Herlyn-Werner-Wunderlich syndrome (HWWS) and conduct a review of the literature to determine clinical and imaging findings in these patients.

Material And Methods: A 16-year-old female patient who presented to a military hospital in Bogotá complaining of recurrent pelvic pain, receiving a final diagnosis of HWWS. A systematic search was conducted in the different databases of systematic reviews, cohort studies, case series and case reports of patients of any age diagnosed with HWWS. Read More

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December 2021

Adenomyosis in a uterine horn of a patient with Mayer-Rokitansky-Kuster-Hauser syndrome.

BMJ Case Rep 2022 Feb 7;15(2). Epub 2022 Feb 7.

Obstetrics and Gynaecology, Centro Hospitalar do Baixo Vouga, EPE, Aveiro, Portugal.

A 37-year-old woman with a previous diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome at 18 years of age was referred from a primary healthcare physician to a gynaecology appointment in our centre. She presented with a 2-year worsening pelvic pain and dyspareunia, symptoms that were previously absent and, at the time, with inadequate relief with oral analgesia. Physical examination showed absent uterine cervix and hypoplastic superior vagina. Read More

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February 2022

Accessory cavitated uterine mass: a new müllerian anomaly?

Beth W Rackow

Fertil Steril 2022 03 31;117(3):649-650. Epub 2022 Jan 31.

Columbia University Irving Medical Center, Department of Obstetrics & Gynecology, Columbia University Fertility Center, New York, New York.

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Mayer-Rokitansky-Küster-Hauser Syndrome: MR Manifestations Of Typical And Atypical Cases.

J Ayub Med Coll Abbottabad 2021 Oct-Dec;33(Suppl 1)(4):S711-S716

Holy Family Hospital, Rawalpindi, Pakistan.

Background: The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a group of congenital malformations arising due to agenesis or arrest of the growth of paired Mullerian ducts leading to absence of uterus, fallopian tubes and upper part of vagina. MRI has an unmatched role in diagnosing MRKH syndrome. The aim of the present study is to elaborate MRI manifestations of typical and atypical MRKH syndrome and its common and rare associations. Read More

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January 2022

Donor robotic-assisted laparoscopy for uterus transplantation.

Fertil Steril 2022 03 17;117(3):651-652. Epub 2022 Jan 17.

Institute Clinic of Gynecology, Obstetrics and Neonatology, Hospital Clinic de Barcelona, Institut dÍnvestigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Barcelona, Spain.

Objective: Uterine transplantation has proven to be a viable solution in cases of absolute uterine factor infertility. Performing uterine explant surgery is one of the most difficult gynecologic surgical challenges owing to the complexity of the uterine vascular system. The goal of this video is to demonstrate uterine explant surgery and highlight the critical anatomy involved in this procedure. Read More

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A rare case of the new entity of müllerian anomalies mimicking the noncommunicating rudimentary cavity with hemi-uterus: accessory cavitated uterine mass.

Fertil Steril 2022 03 17;117(3):646-648. Epub 2022 Jan 17.

Department of Obstetrics and Gynecology, Eskisehir Osmangazi University Faculty of Medicine, Eskisehir, Turkey.

Objective: To demonstrate the laparoscopic excision of an accessory cavitated uterine mass (ACUM) and show that atypical anomalies can lead to the misdiagnosis of a noncommunicating rudimentary horn.

Design: Description and step-by-step demonstration of the surgical procedure using a video recording (Canadian Task Force Classification 3).

Setting: University hospital. Read More

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Uterine Transplantation: Recipient Patient Populations.

Clin Obstet Gynecol 2022 03;65(1):15-23

Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University Hospitals Cleveland Medical Center, Beachwood.

Uterine transplantation is an emerging treatment for patients with uterine factor infertility (UFI). In order to determine patient candidacy for transplant, it is imperative to understand how to identify, counsel and treat uterine transplant recipients. In this article, we focus on patient populations with UFI, whether congenital or acquired, including Mayer-Rokitansky-Kuster-Hauser, complete androgen insensitivity syndrome, hysterectomy, and other causes of nonabsolute UFI. Read More

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Psychological intervention in women with Mayer-Rokitansky-Küster-Hauser syndrome after artificial vaginoplasty: a prospective study.

Int Urogynecol J 2022 Mar 14;33(3):723-729. Epub 2022 Jan 14.

Obstetrics and Gynecology Hospital, Fudan University, Huangpu District, Fangxie Road 419, Shanghai, 200011, China.

Introduction And Hypothesis: The negative psychological impact on women with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is long-lasting, resulting from not only the disease itself, but also the cumbersome and painful treatment process. However, little is known about the postoperative psychological status of these patients and related interventions to improve mental health. Here, in our study, we postulated that mental disorders exist in MRKH patients with a surgical neovagina and that psychological intervention will be helpful. Read More

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A genotype-first analysis in a cohort of Mullerian anomaly.

J Hum Genet 2022 Jun 13;67(6):347-352. Epub 2022 Jan 13.

Department of Obstetrics and Gynaecology, National Clinical Research Center for Obstetric & Gynecologic Diseases, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, 100730, China.

Müllerian anomaly (M.A.) is a group of congenital anatomic abnormalities caused by aberrations of the development process of the Müllerian duct. Read More

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A rare variant of obstructed hemivagina and ipsilateral renal agenesis and its improvement of classification.

J Obstet Gynaecol Res 2022 Mar 10;48(3):869-874. Epub 2022 Jan 10.

Maternal and Child Health Hospital of Hubei Province, Wuhan, China.

Obstructed hemivagina and ipsilateral renal agenesis (OHVIRA) is a rare congenital malformation of the female reproductive organs, including uterine dysplasia, blind hemivagina, and ipsilateral renal dysplasia. It has a serious impact on patients' quality of life and fertility. We report a rare case of OHVIRA with a complete septate uterus, ectopic dysplasia of the left kidney, left ectopic ureter, and three oblique vaginal septa. Read More

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One patient with two uteri and two pregnancies - a rare case of twins in a patient with uterus didelphys.

Ginekol Pol 2021;92(12):905-906

1st Department of Obstetrics and Gynecology, Medical University of Warsaw, Poland.

We report an extraordinary case of double pregnancy in patient with uterus didelphys. This anatomic anomaly originates from the lack of fusion of the paired Mullerian ducts during embryological development with 0.3% prevalence in the population. Read More

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