Müllerian duct anomalies

  • 文章类型: Case Reports
    子宫是女性生殖道的一种罕见的先天性异常,其特征是子宫颈和身体分开。它是由于准肾气(Mülerian)导管的异常发育而发生的。在几种动物物种中已经报道了不同形式的子宫didelphys,包括牛,马,Ewe,山羊,猪,婊子。然而,以前没有报告记录了骆驼中完全分裂的女性生殖道。此外,缺乏关于动物这种异常的文献。因此,本研究报告,第一次,一种罕见的女性生殖道完全分裂的病例。此外,综述了现有的关于不同动物种类的子宫didelphys的相关文献。
    骆驼的雌性生殖道,大约10岁,有以前成功怀孕的历史,在动物被宰杀后被带到解剖学部门。初步检查显示由两个卵巢组成的正常生殖道,两个输卵管,子宫,还有一个阴道.仔细检查发现阴道完全分裂,阴道的每个部分都有一个外部的操作系统,还有一个分开的子宫体和子宫颈。通过一个外部口在子宫内输注生理盐水,证实子宫体和子宫颈完全分离。
    对于作者的知识,这是第一例报告的雌性生殖道完全分裂的病例。这篇综述总结了先前关于农场动物子宫双子宫的报道。
    UNASSIGNED: Uterus didelphys is a rare congenital anomaly of the female reproductive tract characterized by a divided uterine cervix and body. It occurs due to abnormal development of the paramesonephric (Müllerian) duct. Different forms of uterus didelphys have been reported in several animal species, including bovine, equine, ewe, goat, swine, and bitch. However, there is no previous report that has documented a completely divided female genital tract in she-camel. Moreover, there is a lack of literature regarding this anomaly in animals. Therefore, the present study reports, for the first time, a rare case of a completely divided female genital tract in a she-camel. In addition, the existing relevant literature on uterus didelphys in different animal species is reviewed.
    UNASSIGNED: A female reproductive tract of she-camel, approximately 10 years old, with a history of previous successful pregnancy, was brought to the anatomy department following the slaughtering of the animal. Initial examination revealed a normal reproductive tract consisting of two ovaries, two fallopian tubes, a uterus, and a vagina. A closer examination revealed a completely divided vagina, with an external os opened into each part of the vagina, as well as a divided uterine body and cervix. Intrauterine infusion of saline through one external os confirmed complete separation of uterine body and cervix.
    UNASSIGNED: To the authors\' knowledge, this is the first reported case of a completely divided female genital tract in a she-camel. This review summarizes the previous reports about uterus didelphys in farm animals.
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  • 文章类型: Case Reports
    Mullerian异常是影响旁肾小管的胚胎学发育的畸形,并且由于共有的胚胎学而与多种泌尿生殖系统缺陷有关。包括VACTERL协会,这些患者中约有三分之一共存。我们报告了一例罕见的病例,在一个已知的16岁女孩的VACTERL关联病例中,单角非交通角子宫具有基本的第二角。
    Mullerian anomalies are malformations that affect the embryological development of paramesonephric ducts and are associated with multiple urogenital defects due to shared embryology, including VACTERL association, which coexists in about one-third of these patients. We report a rare case of a unicornuate noncommunicating horn uterus with a rudimentary second horn in a known case of VACTERL association in a 16-year-old girl.
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  • 文章类型: Journal Article
    背景:苗勒管畸形(MDA)是先天性发育障碍,表现为女性生殖道的多种畸形。已确定的MDA的病因是有限的。本研究旨在揭示MDAs的潜在遗传原因。
    方法:在北京妇产医院从MDAs患者组成的队列中调用了雄激素受体(AR)的罕见变异,并进行了全外显子组测序(WES)。首都医科大学,北京,中国。Sanger测序用于确认致病基因突变。使用计算机模拟分析对每个变体的致病性进行分类。进行分子建模和模拟以研究野生型(WT)和突变蛋白之间的构象变化。
    结果:从我们机构的MDAs队列中确定了总共3种罕见的AR杂合变体,未知的影响。所有变异都是错义突变,包括c.173A>T,c.558C>A和c.1208C>T,在基因组聚集数据库和外显子组聚集联盟数据库中,东亚人群中不存在或罕见。根据美国医学遗传学和基因组学学院的指南,c.1208C>T变异被归类为可能致病,而另外两个是不确定意义的变体。在分子动力学模拟中,根据均方根方差,WT和突变蛋白均达到稳定状态。回转半径值显示Q58L和S186R蛋白比WT更致密,而A403V的结构变得更加松散。尽管,与WT相比,在Q58L中氢键的数量增加,而在其他两个变体中下降。此外,在Q58L和A403V中溶剂可及的表面积减小,而在S186R蛋白中增大,与WT相比。
    结论:据我们所知,这是关于AR突变和MDAs相关性的第一份报告.这些变体的鉴定,预测损伤AR蛋白的结构和功能,不仅扩大了MDAs致病基因的突变谱,但为今后的研究提供了新的分子遗传学参考。
    BACKGROUND: Müllerian duct anomalies (MDAs) are congenital developmental disorders exhibiting as a variety of malformations of female reproductive tract. The identified etiology of MDAs is limited. The present study aimed to unravel the underlying genetic causes of MDAs.
    METHODS: Rare variants in androgen receptor (AR) were called from the cohort consists of patients with MDAs and underwent whole exome sequencing (WES) at Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China. Sanger sequencing was used to confirm the causative genetic mutations. In silico analysis were used to classify the pathogenicity of each variant. Molecular modeling and simulations were conducted to investigate the conformational changes between the wild-type (WT) and mutant proteins.
    RESULTS: A total of 3 rare heterozygous variants in AR from the MDAs cohort in our institution were identified, with unknown effects. All variants were missense mutations, including c.173A > T, c.558C > A and c.1208C > T, and were absent or rare in East Asian populations in Genome Aggregation Database and the Exome Aggregation Consortium Database. According to the American College of Medical Genetics and Genomics guidelines, c.1208C > T variant was classified as likely pathogenic, while the other two were variants of uncertain significance. During molecular dynamics simulations, WT and mutant proteins all reached stable status according to root-mean-square variance. Values of radius of gyration showed that Q58L and S186R protein would be more compact than WT, while the structure of A403V became looser. Despite, in comparison with WT, the number of hydrogen bonds increased in Q58L, while decreased in the other two variants. Furthermore, the solvent-accessible surface area diminished in Q58L and A403V while enlarged in S186R proteins, when compared with WT.
    CONCLUSIONS: To our knowledge, this is the first report regarding the association of AR mutation and MDAs. The identification of these variants, predicted to damage the structure and function of AR protein, not only expanded the mutational spectrum of causative genes of MDAs, but provide novel molecular genetic reference for future studies.
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  • 文章类型: Case Reports
    与子宫内膜癌并发的穆勒导管异常(MDA)异常罕见,只有几个记录在案的案例。这里,我们介绍了一个在子宫双角子宫内膜癌的例子,在一个54岁的女性有肾癌病史,接受左根治性肾切除术和左附件卵巢切除术的患者。患者因绝经后阴道出血寻求医学评估。宫腔镜扩张和刮宫显示存在两个子宫颈和两个子宫内膜腔,病理结果提示子宫内膜样腺癌(G1)。术前MRI分期证实诊断为双宫颈和子宫。随后,进行了开腹子宫切除术和右附件卵巢切除术,揭示子宫(国际妇产科联合会2018年,IA期)。本手稿旨在探讨在存在MDA的情况下肾脏和子宫内膜恶性肿瘤之间的潜在相关性。
    Müllerian duct anomalies (MDAs) concurrent with endometrial cancer are exceptionally rare, with only a few documented cases. Here, we present a case of endometrial cancer in both horns of a didelphys uterus in a 54-year-old woman with a history of renal cancer, who underwent left radical nephrectomy and left salpingo-oophorectomy. The patient sought medical evaluation due to postmenopausal vaginal bleeding. Hysteroscopy with dilation and curettage revealed the presence of two cervixes and two endometrial cavities, with pathology results indicating endometrioid adenocarcinoma (G1). Preoperative MRI staging confirmed the diagnosis of a double cervix and uterus. Subsequently, an open abdominal hysterectomy and a right salpingo-oophorectomy were performed, revealing a didelphys uterus (International Federation of Gynaecology and Obstetrics 2018, stage IA). This manuscript aims to explore the potential correlation between renal and endometrial malignancies in the presence of MDAs.
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  • 文章类型: Journal Article
    背景:多囊卵巢综合征(PCOS)的存在与子宫异常之间存在显著关联。目前尚不清楚高抗苗勒管激素(AMH)水平是否与PCOS女性子宫畸形的发展共存。这项研究旨在调查多囊卵巢综合征女性的苗勒管异常与抗苗勒管激素(AMH)水平之间的关系。
    方法:在这项回顾性队列研究中,我们分析了1,391例PCOS女性的记录.该队列分为低AMH组(n=700)和高AMH组(n=691),基于8.45ng/ml的AMH截止值。根据三维超声将苗勒管畸形分为四个亚型:纵隔子宫,双角子宫,双子宫,单角子宫,和弓形子宫.主要结果是苗勒管异常的总体发生率。次要结果是上述特定类型的穆勒导管异常的患病率。使用卡方检验或Fisher精确检验分析了苗勒管异常的患病率。
    结果:在PCOS患者中,高AMH组单角子宫异常的患病率高于低AMH组(1.0%vs.0.1%,P=0.04)。两个AMH组之间子宫畸形的总发生率无统计学差异(4.3%vs.5.7%,P=0.22)。
    结论:我们的研究证实,在AMH水平较高的PCOS女性中,单角子宫的患病率较高。临床医生可能会决定调查AMH水平较高的PCOS女性单眼子宫的可能性。
    BACKGROUND: Significant associations between the presence of polycystic ovary syndrome (PCOS) and uterine anomalies have been reported. It is unclear whether high anti-Müllerian hormone (AMH) levels coexist with the development of uterine malformations in women with PCOS. This study sought to investigate the association between Müllerian duct anomalies and anti-Müllerian hormone (AMH) levels in women with PCOS.
    METHODS: In this retrospective cohort study, the records of 1,391 women with PCOS were analyzed. The cohort was divided into a low-AMH group (n = 700) and a high-AMH group (n = 691), based on an AMH cutoff value of 8.45 ng/ml. Müllerian duct anomalies were classified into four subtypes based on three-dimensional ultrasonography: septate uterus, bicornuate uterus, uterus didelphys, unicornuate uterus, and arcuate uterus. The primary outcome was the overall incidence of Müllerian duct anomalies. The secondary outcome was the prevalence of the abovementioned specific types of Müllerian duct anomalies. The prevalence of Müllerian duct anomalies was analyzed using the chi-squared test or Fisher\'s exact test.
    RESULTS: Among the patients with PCOS, the prevalence of unicornuate uterus anomalies was higher in the high-AMH group than in the low-AMH group (1.0% vs. 0.1%, P = 0.04). No statistically significant difference in the overall incidence of uterine malformations was found between the two AMH groups (4.3% vs. 5.7%, P = 0.22).
    CONCLUSIONS: Our study confirmed a higher prevalence of unicornuate uterus in PCOS women with high AMH levels. Clinicians might decide to investigate the possibility of a unicornuate uterus in PCOS women with high AMH levels.
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  • 文章类型: Case Reports
    苗勒管异常包括涉及女性生殖系统的各种发育异常,其中许多没有被美国目前使用的分类系统充分代表。可以通过成像进行诊断,但是初步评估首先需要彻底的身体检查。一名19岁的女性在进行异常的骨盆检查后接受了骨盆MRI检查,以评估苗勒管异常。成像显示单个子宫腔,分为2个不同的宫颈和阴道。患者接受宫腔镜下阴道隔切除术。这种类型的异常极为罕见,潜在的不孕症或阴道分娩并发症的相关临床结果尚不确定。对穆勒导管异常使用更全面的分类系统可能有助于识别和研究此类稀有亚型。
    Müllerian duct anomalies include a wide variety of developmental abnormalities involving the female reproductive system, many of which are not adequately represented by the current classification system used in the United States. Diagnosis can be made with imaging, but initial evaluation first requires a thorough physical exam. A 19-year-old female received a pelvic MRI for evaluation of a Müllerian duct anomaly following an abnormal pelvic exam. Imaging demonstrated a single uterine cavity which divides into 2 distinct cervices and vaginas. The patient received a hysteroscopic resection of her vaginal septum. This type of anomaly is extremely rare and associated clinical outcomes of potential infertility or complications with vaginal delivery are uncertain. Use of a more comprehensive classification system for Müllerian duct anomalies may assist with identification and research of such rare subtypes.
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  • 文章类型: Journal Article
    目的:评估侵袭性宫颈扩张术对于在完整纵隔子宫的非交通腔之间形成初始穿孔是否有效,这是宫腔镜保留子宫颈成形术的第一步。
    方法:回顾性队列。
    方法:三级转诊中心。
    方法:对53例完全纵隔子宫患者进行阴道检查,联合二维/三维阴道超声,和办公室宫腔镜检查。
    方法:比较了接受宫腔镜保留宫颈成形术的患者,这些患者最初是通过积极的宫颈扩张术或传统的探条引导切口方法形成的穿孔。
    结果:在53例完全纵隔子宫患者中,44例患者接受了宫腔镜保留宫颈的子宫成形术,需要形成穿孔。接受积极的宫颈扩张术形成穿孔的患者手术时间没有明显缩短(33.5分钟,95%CI:28.4-38.6vs48.7分钟,95%CI:28.2-71.3,p=0.099),使用了显著较低体积的膨胀介质(3.6升,95%CI:3.1-4.1vs6.8升,95%CI:4.2-9.3,p<.001),成功率较高(84.4%,95%CI:67.2-94.7vs50.0%,95%CI:21.1-78.9,p=0.019)。穿孔部位均发生在宫颈内膜间隔上,通常是纤维状和无血管的。
    结论:我们提出了一个新的,在宫腔镜保留子宫颈成形术中创建初始穿孔的有效方法。成功可能是由于重复的子宫颈隔膜存在潜在的弱点,在侵略性机械扩张时自发撕裂。该方法基于潜在的不可靠线索,放弃了与尖锐切口相关的风险,并且可以大大简化程序。
    To evaluate whether aggressive cervical dilation is effective for creating the initial perforation between noncommunicating cavities of the complete septate uterus (CSU), which serves as the first step of hysteroscopic cervix-preserving metroplasty (CPM).
    A retrospective cohort.
    A tertiary referral center.
    Fifty-three patients with CSU were diagnosed using vaginal examinations, combined two- and three-dimensional vaginal ultrasounds, and office-based hysteroscopies.
    Patients who had received hysteroscopic CPM with the initial perforation created by aggressive cervical dilation or by the traditional method of bougie-guided incisions were compared.
    Of the 53 patients with CSU, 44 patients received hysteroscopic CPM that required the creation of a perforation. Patients who received aggressive cervical dilation for creation of the perforation had nonsignificantly shorter surgical times (33.5 minutes, 95% confidence interval [CI], 28.4-38.6 vs 48.7 minutes, 95% CI, 28.2-71.3, p = .099), used significantly lower volumes of distending media (3.6 liters, 95% CI, 3.1-4.1 vs 6.8 liters, 95% CI, 4.2-9.3, p <.001), and had higher success rates (84.4%, 95% CI, 67.2-94.7 vs 50.0%, 95% CI, 21.1-78.9, p = .019). The sites of perforation all occurred on the endocervical septum and were generally fibrous and avascular.
    We present a novel, effective method for creating the initial perforation in hysteroscopic CPM. The success may be because of the existence of a potential weakness in the septum of the duplicated cervix, which spontaneously tears upon aggressive mechanical dilation. The method forgoes the risks associated with sharp incisions based on potentially unreliable cues and may greatly simplify the procedure.
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  • 文章类型: Case Reports
    子宫是女性生殖器官的一种罕见的先天性异常,由子宫的存在指定为一对器官。这是由于苗勒管的胚胎融合失败所致。患有这种异常的女性有一个配对的子宫和两个宫颈,通常是双阴道。在双形子宫中,其中一对怀孕以及另一对脱垂的机会非常低。据作者所知,到目前为止,只有一例此类事件的报告。在这个案例报告中,我们正在报道一名28岁的孕妇四三段(都是阴道分娩,2活着,健康,和足月分娩,但没有任何汇编;1是在8个月时分娩的早期新生儿死亡),她在怀孕期间因抱怨每个阴道突出的肿块而到我们医院就诊14天。在对她进行评估和调查之后,她被诊断为盆腔器官脱垂和晚期早产。随着胎龄的增加,脱垂逐渐减少。剖宫产是在38周加2天的胎龄进行的,以指示分娩中感染的盆腔器官脱垂。结果是一个3000克的男性活着的新生儿。术中,有子宫,一个子宫保持怀孕,而另一个是脱垂。
    Uterine didelphys is a rare congenital anomaly of the female reproductive organs, designated by the presence of the uterus as a pair of organs. This occurs as a result of the failure of the embryonic fusion of Müllerian ducts. Women with this abnormality have a paired uterus with two cervices and usually a double vagina. The chance of having a pregnancy in one of the pairs along with prolapse of the other is very low in a didelphic uterus. To the best of the author\'s knowledge, only one case of such an event has been reported so far. In this case report, we are reporting on a 28-year-old gravida four para three (all are vaginal deliveries, 2 are alive, healthy, and term deliveries without any compilation; 1 is an early neonatal death delivered at 8 months) woman who presented to our hospital with a complaint of a protruding mass per vagina for 14 days in the presence of pregnancy. After she was evaluated and investigated, she was diagnosed with pelvic organ prolapse and late-preterm pregnancy. The prolapse reduced gradually as the gestational age advanced. Cesarean section was done at the gestational age of 38 weeks plus 2 days for the indication of infected pelvic organ prolapse in labor, with the outcome of a 3000 gram male alive neonate. Intraoperatively, there was uterine didelphys, one uterus holding the pregnancy while the other was prolapsing.
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  • 文章类型: Case Reports
    下生殖道癌与泌尿生殖道畸形的组合很少发生。本报告的目的是描述患有子宫双子宫和其他尿路畸形的妇女左子宫颈高级别宫颈发育不良的情况。
    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.
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  • 文章类型: Case Reports
    阻塞的半阴道和同侧肾发育不全(OHVIRA)是女性生殖器官罕见的先天性畸形,包括子宫发育不良,失明的半阴道,同侧肾发育不良.严重影响患者的生活质量和生育能力。我们报告了一例罕见的OHVIRA病例,有一个完整的纵隔子宫,左肾异位发育不良,左输尿管异位,和三个斜阴道隔膜。在腹腔镜检查期间切除了发育不良的左肾和异位输尿管。此外,两层阴道隔膜,在过去的10年里被忽视了,被宫腔镜切除。随着OHVIRA的检出率逐渐提高,以前的分类系统无法概括的表现形式已经出现。通过检索相关案例,我们试图提出一个新的分类系统,这将使临床医生完全了解OHVIRA的表现,并有助于患者的治疗。
    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. The dysplastic left kidney and the ectopic ureter were removed during laparoscopy. In addition, the two layers of vaginal septa, which were ignored in the past 10 years, were removed by hysteroscopy. As the detection rate of OHVIRA has gradually increased, manifestations that previous classification systems could not recapitulate have emerged. By retrieving the relevant cases, we have tried to propose a new classification system, which would allow clinicians to have a complete understanding of the manifestations of OHVIRA and would be helpful in the treatment of patients.
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