scholarly journals Studying Müllerian duct anomalies – from cataloguing phenotypes to discovering causation

2021 ◽  
Vol 14 (6) ◽  
Author(s):  
Laura Santana González ◽  
Mara Artibani ◽  
Ahmed Ashour Ahmed
Keyword(s):  
Developmental Disorders ◽  
New Technologies ◽  
Association Studies ◽  
Female Reproductive Tract ◽  
Mullerian Duct ◽  
Female Population ◽  
Müllerian Duct ◽  
Familial Cases ◽  
Müllerian Duct Anomalies ◽  
Mullerian Duct Anomalies

ABSTRACT Müllerian duct anomalies (MDAs) are developmental disorders of the Müllerian duct, the embryonic anlage of most of the female reproductive tract. The prevalence of MDAs is 6.7% in the general female population and 16.7% in women who exhibit recurrent miscarriages. Individuals affected by these anomalies suffer from high rates of infertility, first-trimester pregnancy losses, premature labour, placental retention, foetal growth retardation and foetal malpresentations. The aetiology of MDAs is complex and heterogeneous, displaying a range of clinical pictures that generally lack a direct genotype-phenotype correlation. De novo and familial cases sharing the same genomic lesions have been reported. The familial cases follow an autosomal-dominant inheritance, with reduced penetrance and variable expressivity. Furthermore, few genetic factors and molecular pathways underpinning Müllerian development and dysregulations causing MDAs have been identified. The current knowledge in this field predominantly derives from loss-of-function experiments in mouse and chicken models, as well as from human genetic association studies using traditional approaches, such as microarrays and Sanger sequencing, limiting the discovery of causal factors to few genetic entities from the coding genome. In this Review, we summarise the current state of the field, discuss limitations in the number of studies and patient samples that have stalled progress, and review how the development of new technologies provides a unique opportunity to overcome these limitations. Furthermore, we discuss how these new technologies can improve functional validation of potential causative alterations in MDAs.

Various Müllerian-duct anomalies in Women at Rural Tertiary Care Center of Northern India: An Observational Study

2021 ◽  
Vol 17 ◽  
Author(s):  
Naina Kumar ◽  
Ashu Yadav
Keyword(s):  
Observational Study ◽  
Rural Women ◽  
Female Reproductive Tract ◽  
Mullerian Duct ◽  
Mullerian Anomalies ◽  
Müllerian Duct ◽  
Müllerian Anomalies ◽  
Northern India ◽  
Müllerian Duct Anomalies ◽  
Mullerian Duct Anomalies

Aims: Present study was conducted to know presentations and nature of Müllerian-duct anomalies in rural women. Background: Müllerian anomalies are congenital defects of female reproductive tract resulting from faulty development and fusion of Müllerian ducts. Objectives: To identify common Müllerian anomalies, their presentation, radiological appearances, complications, associated renal anomalies in rural women of Northern India. Methods: Present observational study was conducted on 181 female patients with suspected Müllerian anomalies presenting to the outpatient department of Obstetrics and Gynecology with various complaints. Data included age, religion, menarche, previous pregnancy if any, duration of infertility, presenting complaints, type of Müllerian anomaly, incidental or symptomatic, diagnostic method, associated anomalies. Statistical analysis was done using SPSS 22.0 version software. Results: Of 181 patients, 16.5% were adolescents, 83.5% adult women with an overall mean (SD) age of 25.02 (5.96) years. Of these, 170 had true Müllerian-duct anomalies and 11 had defects other than Müllerian anomalies, hence excluded. Total 158(92.9%) patients were symptomatic and 12(7.1%) asymptomatic at presentation. The majority (75.9%) were diagnosed incidentally during their visit to the department for various complaints of which infertility (32.4%) was most common. Septate uterus (29.4%) was most common anomaly diagnosed followed by Müllerian agenesis/hypoplasia (22.9%). Around 11.2% cases had associated renal and collecting system anomalies with unilateral renal agenesis (47.4%) being most common. Conclusion: Hence, Müllerian-duct anomalies have diverse presentations and most of them are diagnosed incidentally. Other: The exact prevalence of Müllerian-duct anomalies may be high, especially in rural India due to lack of knowledge and societal pressures.

scholarly journals Müllerian duct anomalies: review of current management

2009 ◽  
Vol 127 (2) ◽  
pp. 92-96 ◽  
Author(s):  
Sérgio Conti Ribeiro ◽  
Renata Assef Tormena ◽  
Thais Villela Peterson ◽  
Marina de Oliveira Gonzáles ◽  
Priscila Gonçalves Serrano ◽  
...  
Keyword(s):  
Female Reproductive Tract ◽  
Diagnostic Methods ◽  
Reproductive Capacity ◽  
Congenital Defects ◽  
Mullerian Duct ◽  
Mullerian Anomalies ◽  
Müllerian Duct ◽  
Müllerian Anomalies ◽  
Müllerian Duct Anomalies ◽  
Mullerian Duct Anomalies

The aim of this paper was to discuss the embryological aspects of Müllerian duct anomalies and to analyze the current diagnostic methods and therapy. Müllerian anomalies are congenital defects of the female reproductive tract resulting from failure in the development of the Müllerian ducts and their associated structures. Their cause has yet to be fully clarified, and it is currently believed to be multifactorial. Symptoms appear principally during adolescence or early adulthood, and affect the reproductive capacity of these women. When clinically suspected, investigations leading to diagnosis include imaging methods such as hysterosalpingography, ultrasonography and magnetic resonance. The classification of these malformations relates to their embryogenesis, and defines the therapy and prognosis. Müllerian anomalies consist of a wide range of defects that may vary from patient to patient. Therefore, their management must also be individual, taking anatomical and clinical characteristics into consideration, as well as the patient's wishes.

Role of Ultrasound and Magnetic Resonance Imaging in Assessment of Müllerian Duct Anomalies

QJM ◽  
2020 ◽  
Vol 113 (Supplement_1) ◽  
Author(s):  
S B Ali ◽  
A M Salama ◽  
Z A Mahmoud
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Imaging Modality ◽  
Mullerian Duct ◽  
Resonance Imaging ◽  
Müllerian Duct ◽  
Uterine Anomalies ◽  
Müllerian Duct Anomalies ◽  
Mullerian Duct Anomalies

Abstract Background Müllerian duct anomalies (MDAs) occur as a result from abnormal development of the uterus, cervix, and upper vagina. Many classification systems are presented, aiming to provide a more suitable and accurate categorization of female genital anomalies. Ultrasonography (US), Magnetic Resonance Imaging (MRI), or a combination of both are considered the gold standard in evaluation of uterine anomalies. Aim of the Work The main purpose of the study is to determine the diagnostic role of MRI and US in assessment of Müllerian duct anomalies and its subtypes. Patients and Methods This prospective analytical study was conducted at 14 patients suspected to have MDAs at Al-Demerdash Hospital-Ain Shams University in the period from September 2017 to May 2018, Their ages ranged from 15-40 year-old. All cases underwent Pelvic U/S and MRI, findings were correlated with laparoscopy. Results In this study the Mullerian duct anomalies were categorized into four groups: (a) congenital absence of the Müllerian ducts, or the Mayer-Rokitansky-Kuster-Hauser syndrome (n = 8), (b) disorders of vertical fusion (n = 1),(c) disorders of lateral fusion (n = 3) and (d) MDAs mimics(n = 2).MRI allowed correct diagnosis of 14 uterine anomalies (accuracy 100%) whereas US was correct in 13 out of 14 cases (accuracy 92.8%). Conclusion Two dimensional ultrasound stands as the first imaging modality of choice. MRI remains the reference imaging modality in diagnosis of Mullerian anomalies and it is subtypes and should be preserved for doubtful or complex cases.

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