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1.
ACOG Committee on Adolescent Health Care 《Obstetrics and gynecology》2002,100(1):213-216
Vaginal agenesis occurs once in every 4,000-10,000 females. The most common cause of vaginal agenesis is congenital absence of the uterus and vagina, which is also referred to as müllerian aplasia, müllerian agenesis, or Mayer-Rokitansky-Küster-Hauser syndrome. The condition usually can be managed nonsurgically with the use of successive dilators if it is correctly diagnosed and the patient is sufficiently motivated. Besides correct diagnosis, effective management also includes evaluation for associated congenital, renal, or other anomalies and careful psychologic preparation of the patient before any treatment or intervention. If surgery is preferred, a number of approaches are available; the most common is the Abbe-McIndoe operation. 相似文献
2.
Dorais J Milroy C Hammoud A Chaudhari A Gurtcheff S Peterson CM 《Journal of minimally invasive gynecology》2011,18(2):262-266
Asymmetric obstructed uterus didelphys (Herlyn-Werner-Wunderlich syndrome) is a rare congenital müllerian anomaly consisting of uterus didelphys, hemivaginal septum, and ipsilateral renal agenesis. Herein is reported a case of incomplete Herlyn-Werner-Wunderlich syndrome diagnosed using 3-dimensional transvaginal ultrasound in a 14-year-old patient with absence of the hemivaginal septum. The most contributive diagnostic factors and appropriate therapeutic management in such cases are discussed. 相似文献
3.
Anatomic uterine defects appear to predispose women to reproductive difficulties, including first- and second-trimester pregnancy losses, higher rates of preterm labor and birth, and abnormal fetal presentation. These anatomic abnormalities can be classified as congenital, including müllerian and diethylstilbestrol-related abnormalities, or acquired, such as intrauterine adhesions or leiomyomata. In women with three or more consecutive spontaneous abortions who underwent hysterosalpingography or hysteroscopic examination of their uteri, mullerian anomalies have been found in 8 to 10%. Women with mullerian anomalies may be predisposed to recurrent pregnancy loss because of inadequate vascularity to the developing embryo and placenta, reduced intraluminal volume, or cervical incompetence. The reproductive history of most women with a müllerian anomaly is poor, especially for women with a uterine septum, the most common mullerian anomaly. Recurrent pregnancy losses resulting from a uterine septum, bicornuate uterus, intrauterine adhesions, and fibroids are amenable to surgical correction. Women with müllerian anomaly and a history of second-trimester pregnancy losses may benefit from a prophylactic cervical cerclage. 相似文献
4.
The prevalence of müllerian malformations is 1 in 200, or 0.5%. A third of the anomalies are septate, a third bicornuate uteri, 10% arcuate uterus, 10% didelphis and unicornuate uterus, and < 5% uterine and vaginal aplasia. Correct diagnosis of the malformation is most important but often very difficult. Correct treatment can only be performed if the malformation is clear. Longitudinal vaginal septums have to be removed due to potential obstetric problems. Transverse vaginal septums can cause hematocolpos and pain and have to be incised crosswise and excised so as not to shorten the vagina at the same time. Congenital vaginal agenesis occurs in Mayer-Rokitansky-Kuster-Hauser syndrome patients and in androgen insensitivity syndrome. The first choice for surgical treatment should be the new laparoscopic-assisted creation of a neovagina. Septate uterus has to be distinguished from a bicornuate uterus. Even if it is not proven to be a cause for infertility, the chance of miscarriage can be diminished by performing hysteroscopic metroplasty. Repair of a uterine septum in infertility patients often improves pregnancy rates. In contrast, surgical repair of a bicornuate uterus requires an abdominal metroplasty. This should only be performed if the patient has recurrent fetal loss due to the uterine structural defect. In a unicornuate uterus it is most important to determine if there is a second uterine horn that can cause cyclic pain if it has functioning endometrium. The only surgical option in these cases is to remove the rudimentary uterus with endometrium and hematometra, respectively. 相似文献
5.
Zenteno JC Carranza-Lira S Kofman-Alfaro S 《Archives of gynecology and obstetrics》2004,269(4):270-273
Introduction. Müllerian agenesis, also named the Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) or vaginal aplasia, is the second most
common cause of primary amenorrhea. It is characterized by the congenital absence of the Müllerian structures including the
Fallopian tubes, the uterus, and the internal portion of the vagina in an otherwise normally feminized 46,XX subject. Most
cases are sporadic in inheritance, but the occurrence of some patients with chromosomal translocations or even familial aggregates
suggest a genetic basis for the disease, although the etiology of the disease is still unknown. It has been suggested that
activating mutations in the anti-Müllerian hormone (AMH) or in its receptor (AMHRII) are potential sources for the defect.
Methods. In this study we describe the molecular analysis of both the AMH and AMHR genes in a group of 15 patients with Müllerian agenesis.
After sequencing all exons and exon/intron junctions of both genes, we were not able to detect any deleterious mutation.
Results. Five new polymorphisms, 2 of them in the AMHRII gene and 3 of them in the AMH gene, were identified. No significant differences
between patients and controls were observed in the frequency of a given polymorphism.
Conclusion. This work reinforces the view that molecular defects in the AMH or AMHR are unlikely sources for the MRKHS syndrome. 相似文献
6.
Gell JS 《Seminars in reproductive medicine》2003,21(4):375-388
The reproductive organs in both males and females consist of gonads, internal ductal structures, and external genitalia. Normal sexual differentiation is dependent on the genetic sex determined by the presence or absence of the Y chromosome at fertilization. Testes develop under the influence of the Y chromosome and ovaries develop when no Y chromosome is present. In the absence of testes and their normal hormonal products, sexual differentiation proceeds along the female pathway, resulting in a normal female phenotype. Anatomic gynecologic anomalies occur when there is failure of normal embryologic ductal development. These anomalies include congenital absence of the vagina as well as defects in lateral and vertical fusion of the Müllerian ducts. Treatment of müllerian anomalies begins with the correct identification of the anomaly and an understanding of the embryologic origin. This includes evaluation for other associated anomalies such as renal or skeletal abnormalities. After correct identification, treatment options include nonsurgical as well as surgical intervention. This chapter serves to review the embryology and development of the reproductive system and to describe common genital tract anomalies. Details of surgical or nonsurgical correction of these anomalies are presented. 相似文献
7.
8.
Endometriosis and genital anomalies: some histogenetic aspects of external endometriosis 总被引:1,自引:0,他引:1
P Acién 《Gynecologic and obstetric investigation》1986,22(2):102-107
Six cases with a coexistence of endometriosis and genital anomalies among 112 patients with external endometriosis and 90 patients with genital anomaly were detected. Three cases of severe endometriosis associated with uterovaginal duplication, unilateral renal agenesis and ipsilateral blind vagina and the latter in a patient with Rokitansky-Kuster-Hauser syndrome are presented. Another case with obstructive genital anomaly without endometriosis is also presented. The histogenetic mechanisms of endometriosis are discussed. The transplantation theory is not sufficient to explain all the cases and, therefore, the theory of celomic metaplasia and the theory of müllerian remains or Cullen's theory, as well as the intervention of genetic-constitutional, immunologic, hormonal and other factors must also be considered. 相似文献
9.
Mizia K Bennett MJ Dudley J Morrisey J 《The Australian & New Zealand journal of obstetrics & gynaecology》2006,46(1):29-31
BACKGROUND: Müllerian dysgenesis occurs in approximately 1 in 5000 live-born females. There have been many methods described for creation of a functionally useful vagina in cases of Müllerian dysgenesis. Given the number of available methods and the infrequency of the condition, outcome data can be difficult to obtain. AIM: To perform a retrospective review of presentation, treatment and outcomes in cases of Müllerian dysgenesis seen at the adolescent gynaecology unit at the Royal Hospital for Women, Sydney. METHODS: Thirty women with Müllerian dysgenesis were identified between January 2000 and December 2004. Of these, 23 had Müllerian agenesis and seven had partial vaginal agenesis. As this audit and review conform with the standards established by the National Health and Medical Research Council for ethical quality review, ethics approval was not sought. RESULTS: Dilator therapy under the guidance of a trained clinical nurse educator was successful in creating a functionally useful vagina and was well tolerated in all cases of Müllerian agenesis. Patients suffering from segmental vaginal agenesis all had surgical creation of a neovagina with the aid of an amnion vaginoplasty. All patients who were referred following surgical drainage of their haematocolpos outside the unit became infected and needed to undergo further surgery prior to creation of a neovagina. Fibrotic vaginal bands developed only in these patients. CONCLUSION: The outcomes reinforce the TASPAG guidelines of management for Müllerian dysgenesis, which suggest that dilators are generally effective in creating a functionally useful vagina, and if surgery is required, the primary operation should be definitive and performed by well-trained experts. 相似文献
10.
《Journal of pediatric and adolescent gynecology》2016,29(3):e43-e47
BackgroundThe objective of this study was to report 2 cases of the combined congenital anomalies of complete vaginal atresia and partial cervical agenesis, and highlight the limitations of magnetic resonance imaging for definitive initial diagnosis, and consequently the importance of early definitive management, to avoid life-threatening sepsis. Herein we provide a retrospective case audit of two patients with congenital abnormalities between 2005 and 2013 who were treated in a quaternary statewide pediatric and adolescent gynecology center.CasesTwo patients with the combined congenital anomalies of complete vaginal agenesis and partial cervical agenesis highlight the difficulties encountered with the limitations of magnetic resonance imaging in accuracy of diagnosis, as well as development of life-threatening sepsis that requires hysterectomy. Both patients were initially imaged as having distended endometrial cavities and cervical canals with what was thought to be an obstructive upper vaginal septum and absent lower vagina. Both required initial neovagina creation, however the cervices were never clinically or surgically visualized.Summary and ConclusionPartial cervical agenesis is a relatively rare form of Müllerian abnormality which, if not diagnosed and definitively treated early, can have significant morbidity and mortality. Although magnetic resonance imaging is the diagnostic imaging gold standard for Müllerian abnormalities, it is important to recognize the limitations of this modality, the potential sequelae of these limitations, and to appreciate the importance of early accurate diagnosis and treatment of this condition. Importantly, if the imaging diagnosis does not completely correlate with the clinical and surgical findings, then a high suspicion of complete or partial cervical agenesis is prudent, because the consequences of nondefinitive early treatment can be life-threatening and potentially fatal. 相似文献
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12.
Abdulmajeed AlSubaihin John VanderMeulen Kate Harris John Duck Elizabeth McCready 《Journal of pediatric and adolescent gynecology》2018,31(2):158-161
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.Case
We report a second case of Müllerian agenesis in a girl with CES. A 16-year-old girl presented with bilateral colobomata, primary amenorrhea, and absence of the uterus and upper vagina on pelvic magnetic resonance imaging. Microarray analysis showed tetrasomy of the pericentromeric region of chromosome 22 diagnostic of CES.Summary and Conclusion
Müllerian aplasia/hypoplasia might represent a rare feature in CES and should be considered in the investigation of young girls with this syndrome. An increasing number of cases with 22q11 chromosome abnormalities and Müllerian agenesis further highlights the possibility of a gene within the 22q11 region that might mediate normal Müllerian development in girls. 相似文献13.
Summary of accurate diagnosis and surgical management of vaginal anomalies. Imperforate hymen, transverse septa, and distal vaginal agenesis present similarly with pain and hematocolpos. Likewise, imperforate hymen, transverse septa, distal vaginal agenesis, and Müllerian aplasia may appear similarly on examination. Imaging should be used to better differentiate the anomaly. Although surgical correction is the mainstay of hymenal anomalies, septa, obstructed hemivaginas, and distal vaginal agenesis, first-line therapy for Müllerian aplasia is progressive dilation. Many surgical techniques are also described but no consensus exists as to the best one. Clinicians should be aware of the appropriate evaluation, differential diagnosis, and management options available for vaginal anomalies. 相似文献
14.
Complete and partial vaginal agenesis. 总被引:2,自引:0,他引:2
The proper diagnosis and treatment of a patient with vaginal agenesis demands a thorough knowledge of the relevant embryology, anatomy and physiology as well as sensitivity to the potentially emotionally devastating effects of the condition. Ten patients with vaginal agenesis were evaluated and treated at Wilford Hall USAF Medical Center over a three-year period. The patients fell into three groups, those with: (1) Müllerian atresia, complete or partial; (2) maldevelopment of the lower one-third of the vagina; and (3) testicular ferminization. Other congenital anomalies existed in many of these patients. Most of the patients were treated with the Frank method of vaginal development with good results. Some underwent surgical correction. 相似文献
15.
Our present understanding of the sequence and mechanisms of human genital organogenesis is reviewed. Current theories about the derivation of the vaginal epithelium are examined and tested against two anomalous circumstances, congenital androgen insensitivity and agenesis of the lower vagina, which are presented as examples demonstrating the respective participation of the urogenital sinus or of the Müllerian ducts alone in the developmental process. The abnormalities recently described in the vagina and cervix of girls exposed in utero to diethylstilbestrol (DES) correspond remarkably with those encountered in lower vaginal agenesis, particularly with regard to the presence of vaginal adenosis, the deficiency of glycogen in the squamous cells (squamous metaplasia), and the abnormal response of the squamous epithelium to Schiller's iodine test. It is concluded that the development of the human vagina is best explained by the theory which holds that the Müllerian ducts in fetal life extend caudally to the level of the future hymen. After fusion of these ducts, squamous cells arising in the epithelium of the urogenital sinus invade from below, advance, and replace completely the Müllerian mucosa up to the level of the external os of the cervical canal. 相似文献
16.
Saad Ganem A López-Ortiz CG Lejtik Alva CA Quintero Bernal P Zafra de la Rosa G Gutiérrez Palomares V 《Ginecología y obstetricia de México》2008,76(6):349-352
Clinical term of association refers to a not randomized congenital malformations which are present in one single subject. The term MURCS is an acronym for (MU) Mullerian, (R) Renal, (C) Cervicothoracic, (S) Somite abnormalities. We communicate a case of a phenotipically normal 16 years old female patient with primary amenorrhea due to müllerian malformations and cervicothoracic dysplasia integrating the MURCS association diagnosis. 相似文献
17.
Human amnion is a readily available and inexpensive allograft with low antigenicity, high antimicrobial potential, and the ability to foster epithelialization. It has been used to reconstruct the vagina in 2 patients following vaginectomy for diffuse carcinoma in situ (CIS) and in 1 patient following severe, corrosive, vulvovaginal burns. It was also used to construct the vagina in 1 patient with müllerian agenesis. In all 4 cases, epithelialization was complete within 8 weeks. 相似文献
18.
Maldevelopment of the Müllerian duct system can result in various uterine, vaginal, and renal abnormalities. Complete or partial absence of Müllerian duct fusion and/or canalization results in a septate, bicornuate or didelphys uterus with various types of hemivaginal obstruction. In addition, unilateral renal agenesis is a common association. Five patients with uterine anomalies and an obstructed hemivagina are described according to the complete or incomplete obstruction between the double vagina and uterus. Early and accurate diagnosis is important, but difficult, due to the variable clinical pictures. Sonographic evaluation can provide valuable diagnostic information. Early diagnosis and excision of the obstructed vaginal septum can completely relieve the symptoms and prevent further sequelae. 相似文献
19.
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a spectrum of Müllerian anomalies characterized by congenital vaginal aplasia and absent uterus or a rudimentary one in female subjects with normal endocrine status. The ovaries and fallopian tubes are present. The prime feature is a primary amenorrhea in women presenting normally developed secondary sexual characteristics and normal external genitalia. The etiology remains unknown. This syndrome is subdivided in two types. It may be isolated (type I) or associated with other malformations (type II). Type I is less frequent than type II. We report a case of MRKH syndrome in a 21-year-old woman who presented a primary amenorrhea studied with transabdominal and pelvic ultrasonography and pelvic magnetic resonance, which demonstrated a complete agenesis of uterus, a functional cyst in the right ovary, and a left pelvic ectopic kidney. We studied the MRKH syndrome with review of the literature. 相似文献
20.
Fifteen women with müllerian defects and a control population of 15 with normal müllerian systems underwent dynamic audiometric testing. The rate of auditory defects in women with müllerian abnormalities (33%) was significantly higher (P less than .05) than in the control population (0%). Those patients manifested mild, moderate and severe sensorineural defects in the high-frequency range. The defects were not accounted for by age or occupation and were associated with renal agenesis in 60% of the cases. One patient with normal audiometric testing and a septate uterus had a family history significant for an identical twin sister with unilateral renal agenesis, ipsilateral congenital deafness and an unevaluated müllerian tract. The results of the study suggest that a spectrum of auditory changes may exist in association with müllerian defects, ranging from previously described congenital deafness to more subtle hearing defects not clinically evident. 相似文献