Wnt信号通路在女性下生殖道发育异常中的研究进展

下生殖道畸形是胚胎发育期由于苗勒氏管的异常形成或融合、吸收障碍,导致子宫、宫颈、阴道等发育异常的疾病,严重影响青少年身心健康。Wnt家族成员参与女性生殖器官的发育。本文对近年来Wnt家族成员Wnt4、Wnt5a、Wnt7a和Wnt9b在苗勒氏管发育、下生殖道异常等方面的研究做一综述。     

幼少女生殖道畸形

幼少女生殖道畸形与成年女性生殖道畸形均系先天性发育异常。如无孔处女膜 ;阴道横隔、纵隔、斜隔 ,或阴道未发育或部分发育 ;子宫异常 ,双子宫、双角子宫、残角子宫、单角子宫伴中肾旁囊肿 ;尿道和直肠异常 ,阴道排尿排便 ;外阴、阴蒂异常也可以反映某些生殖道畸形。然而 ,幼少女生殖道畸形的临床表现、诊断、鉴别诊断及处理与成年女性的有相同处 ,又有不少区别 ,但最重要的是外科处理困难 ,年龄愈小则困难愈大 ,甚至延误诊治。1　处女膜异常微孔、双孔或无孔处女膜在幼女可被忽视。待发育至青春期月经来潮后 ,因阴道经血或分泌物被无孔处…     

生殖道解剖结构异常所致习惯性流产的病因、病机及诊治

女性生殖道解剖结构异常可引起习惯性流产 ,特别是子宫发育异常。现就女性生殖道解剖结构异常所致习惯性流产的病因、病机及诊治现状归纳如下。1　病　因　　副中肾管发育与融合缺陷可产生不同程度的生殖器官解剖异常。在胚胎 6～ 7周时 ,副中肾管在中肾管外前方出现 ;胚胎第 10周 ,双侧副中肾管向尾端延伸 ,跨过中肾管前方 ,在中线与对侧会合后形成子宫体和子宫颈 ;12周时 ,两侧副中肾管之间的间隔融合形成单腔。在胚胎发育过程中 ,若受内外因素影响 ,副中肾管发育受阻或被干扰 ,则发生异常 ,出现各种不同程度的畸形。2　分　类　　目前常…     

常见子宫畸形的种类及诊治

女性生殖道畸形中,子宫发育畸形较为常见。现就子宫畸形的组织学发生、常见类型、诊断及治疗简述如下。1子宫畸形的发生和类型子宫的形成要经过两侧副中肾管的发育、合并、腔化、中隔的融合吸收等一系列复杂的步骤。在胚胎发育的过程中,若受到某些内在或外来因素的干扰,副中肾管停止发育或其融合发生障碍,则可导致子宫发育异常,形成不同类型的子宫畸形。有几种子宫畸形的分类方法,归纳起来主要有解剖学分类和功能性分类法,较常用的是解剖学分类。常见子宫畸形类型有:(1)先天性无子宫及子宫发育不全:①先天性无子宫:两侧副中肾管未到中线前即…     

《中国实用妇科与产科杂志》2018年第4期中心内容预告

正中心内容:女性生殖道畸形诊治重视和发展青少年妇科学跟进女性生殖道畸形诊治发展,减少误诊误治再述必须重视儿童和青少年妇科的发展和建设女性生殖道畸形新分类子宫畸形的诊治宫腔镜子宫纵隔切开术治疗纵隔子宫阴道斜隔综合征的诊治MRKH综合征的诊治腹腔镜腹膜阴道成形术——罗湖Ⅱ式手术技巧腹腔镜肠道阴道成形术的手术要点阴道成形术不同术式的利与弊外生殖器畸形的诊治性腺发育异常的女性生殖道畸形诊治性腺发育异常的生育问题     

女性下生殖道畸形的诊治现状和发展方向

女性下生殖道畸形是一组先天性疾病,是胚胎期副中肾管和泌尿生殖窦发育停滞或分化异常而导致的生殖系统结构缺陷,部分患者合并泌尿系统及骨骼系统发育畸形,属罕少见病.主要包括MRKH综合征(Mayer-Rokitan-sky-Küster-Hauser syndrome,MRKHS)、阴道斜隔综合征(Herlyn—Werner...     

《中国实用妇科与产科杂志》2005年第8期国家级继续医学教育试题

(A型题,答题卡见下页)1关于子宫畸形的说法,下列哪项是错误的?A女性内生殖器是由中肾管发育而来B超声诊断生殖道畸形与临床诊断符合率达80%以上C双子宫伴阴道斜隔者常伴该侧泌尿道畸形D残角子宫有功能内膜则需作残角子宫切除E子宫畸形不引起临床症状可不必治疗2下述哪项内生殖器不是由副中肾管发育而来?A子宫体B子宫颈C阴道D输卵管E卵巢3胎儿外生殖器须在多少周时才可分辨?A胚胎6周B胚胎7周C胚胎8周D胎儿8~9周E胎儿12周4生殖道畸形综合征是指:A先天性无阴道、无子宫B女性内外生殖系统均发育异常的综合征C阴道子宫发育异常,合并泌尿…     

女性生殖道畸形综合征的诊治和预防

女性生殖道畸形综合征是一种生殖道畸形合并有泌尿、骨骼、心血管、消化等多系统发育异常的先天性疾病。主要由于苗勒管发育不全所致。最早由Mayer于1829年报道,后来Rokitansky等对本征进行了深入研究,故该征又称之为Mayer-Rokitansky-Kuster-Hauser综合征(简称MRKH综合征)。单纯生殖道畸形在女性发育异常中比较常见,而MRKH综合征发病率却很低,约1:4000~10000[1,2]。1病因该病系胚胎期苗勒管早期发育正常,进入中期后停止发育或发育不同步所致。因此,输卵管和卵巢发育正常,而子宫和阴道缺如。生殖、泌尿、骨骼、心血管、消化各系统在胚…     

生殖道发育异常对女性生育的影响及其结局

正女性生殖道发育异常从简单到复杂多种多样。在女性胚胎发育时期,如受到某些内源性(如基因或染色体异常)或外源性因素(如使用性激素类药物)的影响,副中肾管或中肾旁管在形成、融合、再吸收过程中出现障碍,就可导致各种生殖道发育异常。生殖道发育异常对女性生育功能及妊娠结局都有重要影响,可能导致不孕、流产、胎位异常、胎儿发育异常、胎儿生长受限、胎盘早剥、产程异常、产后出血、胎盘滞留等一系列不良妊娠事件。其中子宫发育     

Ⅱ型阴道闭锁一例并文献复习

先天性阴道闭锁（congenital atresia of vagina）是由泌尿生殖窦及苗勒管末端发育异常而未形成贯通的阴道所致,发病率较低。阴道完全闭锁也称为Ⅱ型阴道闭锁,多合并宫颈的发育不良,子宫体发育不良或子宫畸形,在临床上更为罕见。本文对2018年10月吉林大学第二医院妇产科收治后又转诊至北京协和医院的1例Ⅱ型阴道闭锁病例进行临床分析并复习相关文献,总结目前国内外诊断、分型和治疗的进展,以期医生能更好地认识这种生殖道畸形,患者得到个体化治疗,实现更佳预后。     

Diagnosis and treatment of müllerian malformations

Anomalies in the müllerian ducts are congenital alterations with more prevalence than it is imagined, varying from 0.5 to 6.7% in the general population and up to 16.7% in women with recurrent miscarriage. The main findings are primary amenorrhea, dysmenorrhea, pelvic pain, endometriosis, sexual difficulties and low self-esteem. The major impact on the quality of life in women stricken by these problems justifies this study, whose objective is to analyze their most important aspects such as etiopathogeny, classification, diagnostic methods and proposed treatments. The research was performed on the Medline-PubMed database from 1904 to 2018. The American Fertility Society, European Society of Human Reproduction and Embryology, and the European Society of Gynaecological Endoscopy classify malformations as: Class 1/U5bC4V4: agenesis or hypoplasia of uterus and vagina; Class 1/U5aC4V4: cervical hypoplasia, associated with total or partial vaginal agenesis; Class 2/U4: unicornuate uterus; Class 3/U3bC2V1 or Class3/U3bC2V2: uterus didelphys; Class 4/U3C0: bicornuate uterus; Class 5/U2: septate uterus; Class 6: arcuate uterus; Class 7/U1: induced by diethylstilbestrol, represented by a T-shaped uterus; and V3: transverse vaginal septum. The diagnostic methods are the two-dimensional or three-dimensional ultrasound, MRI, hysterosalpingo-contrast-sonography, X-ray hysterosalpingography, hysteroscopy and laparoscopy. Some müllerian malformations are healed with surgery and/or self-dilatation. For vaginal agenesis, dilatation by Frank technique shows good results while malformations with obstruction of the menstrual flow need to be rapidly treated by surgery.     

A case report of polysplenia syndrome associated with genital tract duplication anomaly

Polysplenia syndrome is a condition that persists as a defect of lateralisation, the embryonic process by which the site of body organs is determined. The most frequent manifestations of this syndrome, in addition to polysplenia are complex cardiac malformations, situs inversus, and bilobed lungs. Laterality defects have been known to be due to autosomal recessive inheritance. We report a unique case of polysplenia syndrome in association with genital tract duplication anomaly.     

The ESHRE–ESGE consensus on the classification of female genital tract congenital anomalies

The new ESHRE/ESGE classification system of female genital anomalies is presented, aiming to provide a more suitable classification system for the accurate, clear, correlated with clinical management and simple categorization of female genital anomalies. Congenital malformations of the female genital tract are common miscellaneous deviations from normal anatomy with health and reproductive consequences. Until now, three systems have been proposed for their categorization, but all of them are associated with serious limitations. The European Society of Human Reproduction and Embryology (ESHRE) and the European Society for Gynaecological Endoscopy (ESGE) have established a common Working Group, under the name CONUTA (CONgenital UTerine Anomalies), with the goal of developing a new updated classification system. A scientific committee has been appointed to run the project, looking also for consensus within the scientists working in the field. The new system is designed and developed based on: (1) scientific research through critical review of current proposals and preparation of an initial proposal for discussion between the experts, (2) consensus measurement among the experts through the use of the DELPHI procedure and (3) consensus development by the scientific committee, taking into account the results of the DELPHI procedure and the comments of the experts. Almost 90 participants took part in the process of development of the ESHRE/ESGE classification system, contributing with their structured answers and comments. The ESHRE/ESGE classification system is based on anatomy. Anomalies are classified into the following main classes, expressing uterine anatomical deviations deriving from the same embryological origin: U0, normal uterus; U1, dysmorphic uterus; U2, septate uterus; U3, bicorporeal uterus; U4, hemi-uterus; U5, aplastic uterus; U6, for still unclassified cases. Main classes have been divided into sub-classes expressing anatomical varieties with clinical significance. Cervical and vaginal anomalies are classified independently into sub-classes having clinical significance. The ESHRE/ESGE classification of female genital anomalies seems to fulfil the expectations and the needs of the experts in the field, but its clinical value needs to be proved in everyday practice. The ESHRE/ESGE classification system of female genital anomalies could be used as a starting point for the development of guidelines for their diagnosis and treatment.     

Abscess formation of a Gartner's duct cyst with cervical communication in a case of bicornuate uterus associated with an ipsilateral renal agenesis

One case of abscess formation of a Gartner's duct cyst communicating with the cervix of a bicornuate uterus is presented in a case of ipsilateral renal agenesis. The embryonic origin and the incidence of associated genital and urologic malformations are discussed. Marsupialization is recommended as an adequate method of treatment.     

Pregnancy in a non-communicating, rudimentary uterine horn. A reason for failed therapeutic second trimester abortion

Anatomical aberrations in the female genital tract are due to maldevelopment of the Müllerian duct system. Various degrees of malformations are described (9). Some of these malformations are discovered during the investigation of amenorrhea, persistent dysmenorrhea or infertility, while others are discovered in connection with obstetrical problems. The incidence of uterine malformations is quoted as 1:1 500-2 000 (8, 11), the incidence of uterus unicollis bicornis being as rare as 1:100 000 (3). There is no unified nomenclature for the rare types of genital malformations. Semmens describes a group consisting of functional uteri of single Müllerian origin, labelled uterus unicollis bicornis with one rudimentary horn (8). Most rudimentary horns are hollow and allow the expansion of an up to 20 weeks pregnancy (3). Few cases of pregnancy in a rudimentary horn have been seen, causing complications during pregnancy and delivery, and when performing therapeutic abortions (2, 3, 4, 5, 6, 12).     

Venous malformations of the female lower genital tract

Objectives

Vascular malformations are rarely located in the female lower genital tract. We present the specific clinicopathologic features of venous malformation in the lower genital tract and highlight the surgical management of these lesions.

Study design

Between the years 1998 and 2008, 8 of 646 female patients were retrospectively defined as venous malformation in the lower genital tract according to the classification of the International Society for the Study of Vascular Anomalies (ISSVA). Clinical and pathologic information was analyzed according to the medical records and archived pathological sections.

Results

Venous malformations were located in the vagina in three women, and in two of these cases extended to the cervix, and were found at the vulva in five patients. The age of the patients ranged from 15 to 85. The clinical presentations were abnormal vaginal bleeding or vaginal mass in cases with cervicovaginal lesions, and non-specific vulvar nodules in women with vulvar lesions. The abnormalities were found shortly after birth and increased in size gradually thereafter, or become significantly enlarged during or following pregnancy. Postmenopausal episodes could occur, although rarely. Doppler ultrasound, MRI and angiography were available to help define the type of vascular anomalies. The therapeutic approach consisted of interventional embolization and surgical excision. In rare cases of refractory and diffuse cervicovaginal lesions, hysterectomy might be ultimately inevitable.

Conclusion

Venous malformations in the lower female genital tract are rarely reported. Their clinical presentations mimic other genital tract neoplasms, including malignancies. Surgical excision is the curative procedure and is helpful to reach a definite pathological diagnosis.     

Anatomic correlates of ultrasound prenatal diagnosis of urinary tract abnormalities

In 52 fetuses, in utero sonographic diagnosis of urinary tract malformations was correlated with their autoptic or surgical findings. 39 malformations were correctly diagnosed prenatally, although 5 other extrarenal-associated anomalies were not detected; 10 diagnoses were incomplete; in 3 cases the characteristics of malformations found at sonography turned out to be different at the post-mortem examination. The following factors impaired sonographic diagnoses: limited number of examinations, gestational age at the time of examination, nature of malformation and, above all, oligohydramnios (which is common in most urinary tract malformations). The correlations between renal malformations and karyotype anomalies are also discussed in relation to the higher incidence present in polymalformative syndromes.     

儿童急性下呼吸道感染病毒病原学研究

目的　了解儿童急性下呼吸道感染（ALRTI）病毒病原学特点。方法　2007年3月至2008年2月,在北京儿童医院内科就诊及住院治疗的临床诊断为ALRTI的 患儿共572例。对每例患儿在就诊当日或次日采集鼻咽吸取物1份,采用逆转录（RT）-PCR方法进行常见呼吸道病毒核酸检测,包括呼吸道合胞病毒（RSV）、鼻病 毒（RV）、副流感病毒（PIV）1～4型、甲型及乙型流感病毒（IFA、IFB）、腺病毒（AdV）、肠道病毒（EV）、冠状病毒（HCoV）、偏肺病毒（hMPV）及博卡病 毒（HBoV）。结果　572例患儿标本中,444例检出至少1种病毒,总检出率77.6％。各种病毒中,RSV检出率最高,占48.3％,其次是RV（27.1％）和PIV（13.3％ ）。不同年龄组病毒的总检出率差异有统计学意义, < 3岁组检出率较高,≥ 5岁组病毒检出率明显降低。不同年龄组ALRTI病原谱有所不同,< 5岁各组主要是 RSV、RV、PIV,而≥5岁组则主要为RV、IFV、RSV。572例中,158例（27.6％）检出2种或2种以上病毒,< 1岁患儿混合感染率最高,为40.2％,随年龄增长混合 感染率逐渐下降,≥ 5岁患儿混合感染率仅为14.0％。结论　就诊于北京儿童医院的ALRTI患儿中,5岁以下者ALRTI的主要病毒病原是RSV、RV、PIV;≥ 5岁则主 要为RV、IFV、RSV。     

A large retroperitoneal cystic venous malformation mimicking bilateral ovarian cystic tumors

Introduction

Retroperitoneal cysts are a rare disease. Most retroperitoneal cysts of vascular origin have been reported as hemangiomas. However, according to the recent classification of vascular anomalies accepted by the International Society for Study of Vascular Anomalies (ISSVA), these previously reported retroperitoneal hemangiomas should rather have been classified as vascular malformations.

Case report

A 65-year-old woman visited our hospital complaining of a sense of unexplained abdominal fullness. Magnetic resonance imaging suggested a uterine leiomyoma and bilateral ovarian cystic tumors. However, abdominal surgery revealed normal bilateral ovaries, but huge cystic masses in the retroperitoneum. Postoperative histological diagnosis of the retroperitoneal cysts demonstrated that they were venous malformations.

Conclusion

This is a rare case in which large cystic retroperitoneal venous malformations were preoperatively diagnosed as ovarian cystic tumors. Retroperitoneal hemangiomas should be renamed as vascular malformations following the ISSVA classification.