Abstract
Objectives Female genital malformations may take the form of individual entities, they may involve neighboring organs or they may occur in the context of complex syndromes. Given the anatomical structures of the vulva, vagina, uterus and adnexa, the clinical picture of malformations may vary greatly. Depending on the extent of the malformation, organs of the urinary system or associated malformations may also be involved.
Methods This S2k-guideline was developed by representative members from different medical specialties and professions as part of the guidelines program of the DGGG, SGGG and OEGGG. The recommendations and statements were developed using a structured consensus process with neutral moderation and voted on.
Recommendations The guideline is the first comprehensive presentation of the symptoms, diagnosis and treatment options for female genital malformations. Additional chapters on classifications and transition were included.
Key words: guideline, genital malformation, genital reconstruction, MRKH, vaginal septum, subseptate uterus, bladder exstrophy, cloacal malformation
I Guideline Information
Guidelines program of the DGGG, OEGGG and SGGG
For information on the guidelines program, please refer to the end of this guideline.
Citation format
Diagnosis and Therapy of Female Genital Malformations (Part 1). Guideline of the DGGG, OEGGG and SGGG (S2k Level, AWMF Registry Number 015/052, May 2019). Geburtsh Frauenheilk 2021; 2021; 81: 1307–1328
Guideline documents
The complete German-language long version of this guideline and a slide version of these guidelines as well as a list of the conflicts of interest of all of the authors are available on the homepage of the AWMF: http://www.awmf.org/leitlinien/detail/ll/015-052.html
Guideline authors
Table 1 Lead author and/or coordinating guideline author.
| Author | AWMF professional society |
|---|---|
| Prof. Dr. Peter Oppelt | Arbeitsgemeinschaft gynäkologische Endoskopie in DGGG [Gynecologic Endoscopy Working Group of the DGGG], Österreichische Gesellschaft für Gynäkologie & Geburtshilfe [Austrian Society of Gynecology and Obstetrics] |
Table 2 Contributing guideline authors.
| Author Mandate holder |
DGGG working groups/AWMF/non-AWMF professional society/organization/association |
|---|---|
| Binder Helge, Prof. Dr. | Arbeitsgemeinschaft gyn. Endoskopie in DGGG [Gynecologic Endoscopy Working Group of the DGGG] |
| Birraux Jacques, Dr. | Schweizerische Gesellschaft für Kinderchirurgie [Swiss Society for Pediatric Surgery] |
| Brucker Sara, Prof. Dr. | Arbeitsgemeinschaft gyn. Endoskopie in DGGG [Gynecologic Endoscopy Working Group of the DGGG] |
| Dingeldein Irene, Dr. | Schweizerische Gesellschaft für Gynäkologie und Geburtshilfe [Swiss Society of Gynecology and Obstetrics] |
| Draths Ruth, Dr. | Schweizerische Arbeitsgemeinschaft für Kinder- und Jugendgynäkologie [Swiss Working Group on Pediatric and Adolescent Gynecology] |
| Eckoldt Felicitas, Prof. Dr. | Deutsche Gesellschaft für Kinderchirurgie [German Society for Pediatric Surgery] |
| Füllers Ulrich, Dr. | Arbeitsgemeinschaft gyn. Endoskopie in DGGG [Gynecologic Endoscopy Working Group of the DGGG] |
| Hiort Olaf, Prof. Dr. | Deutsche Gesellschaft für Kinder- und Jugendmedizin [German Society of Pediatrics and Adolescent Medicine] |
| Hoffmann Dorit, Dr. | Schweizerische Gesellschaft für Pädiatrie [Swiss Society of Pediatrics] |
| Hoopmann Markus, PD Dr. | Arbeitsgemeinschaft für Ultraschalldiagnostik in DGGG [Working Group for Ultrasound Diagnostics in the DGGG] |
| Hucke Jürgen, Prof. Dr. | Arbeitsgemeinschaft gyn. Endoskopie in DGGG [Gynecologic Endoscopy Working Group of the DGGG] |
| Korell Matthias, PD Dr. | Arbeitsgemeinschaft gyn. Endoskopie in DGGG [Gynecologic Endoscopy Working Group of the DGGG] |
| Kühnert Maritta, Prof. Dr. | Arbeitsgemeinschaft Geburtshilfe & Pränatalmedizin in DGGG [Obstetrics and Prenatal Medicine Working Group of the DGGG] |
| Ludwikowski Barbara, PD Dr. | Deutsche Gesellschaft für Kinderchirurgie [German Society for Pediatric Surgery] |
| Mentzel Hans-Joachim, Prof. Dr. | Gesellschaft für Pädiatrische Radiologie [Society for Pediatric Radiology] |
| OʼDey Dan mon, PD Dr. | Deutsche Gesellschaft der Plastischen, Rekonstruktiven und Ästhetischen Chirurgen [Geman Society of Plastic, Reconstructive and Aesthetic Surgeons] |
| Rall Katharina, Dr. | AG Kinder- und Jugendgynäkologie in DGGG [Pediatric and Adolescent Gynecology Working Group of the DGGG] |
| Riccabona Michael, Univ.-Prof. Dr. | Gesellschaft für Pädiatrische Radiologie [Society for Pediatric Radiology] |
| Rimbach Stefan, PD Dr. | Arbeitsgemeinschaft gyn. Endoskopie in DGGG [Gynecologic Endoscopy Working Group of the DGGG] |
| Schäffeler Norbert, Dr. | Deutsches Kollegium für Psychosomatische Medizin [German Collegium of Psychosomatic Medicine] |
| Shavit Sandra, Dr. | Schweizerische Gesellschaft für Kinderchirurgie [Swiss Society for Pediatric Surgery] |
| Stein Raimund, Prof. Dr. | Deutsche Gesellschaft für Urologie [German Society of Urology] |
| Utsch Boris, PD Dr. | Deutsche Gesellschaft für Kinder- und Jugendmedizin [German Society of Pediatrics and Adolescent Medicine] |
| Wenzl Rene, Prof. Dr. | Österreichische Gesellschaft für Gynäkologie & Geburtshilfe [Austrian Society of Gynecology and Obstetrics] |
| Wieacker Peter, Prof. Dr. | Deutsche Gesellschaft für Humangenetik [German Society of Human Genetics] |
| Zeino Mazen, Dr. | Schweizerische Gesellschaft für Kinderurologie [Swiss Society for Pediatric Urology] |
The guideline was moderated by Dr. med. Monika Nothacker (AWMF-certified guideline moderator).
II Guideline Application
Purpose and objectives
This guideline aims to present feasible diagnostic and therapeutic approaches for patients with congenital malformations of the female genital tract.
Targeted areas of patient care
Hospital care
Outpatient care
Day-patient care
Senior consultant/medical specialist care
Target user group/target audience
This guideline is addressed to the following groups of persons:
Practice-based gynecologists
Hospital-based gynecologists
Practice-based physicians of pediatric and adolescent medicine
Hospital-based physicians of pediatric and adolescent medicine
Practice-based pediatric surgeons
Hospital-based pediatric surgeons
Practice-based physicians for pediatric radiology
Hospital-based physicians for pediatric radiology
Practice-based pediatric urologists
Hospital-based pediatric urologists
Practice-based physicians of psychosomatic medicine and psychologists
Hospital-based physicians of psychosomatic medicine and psychologists
The guideline also aims to provide information to other medical professionals who care for female patients with genital malformations, e.g., nurses.
Adoption and period of validity
The validity of this guideline was confirmed by the executive boards/heads of the participating medical professional societies, working groups, organizations and associations as well as the boards of the DGGG, the DGGG guidelines commission, the SGGG and the OEGGG in the 4th quarter of 2019 and was thus approved in its entirety. This guideline is valid from 1st May 2019 through to 30th May 2024. Because of the contents of this guideline, this period of validity is only an estimate.
III Methodology
Basic principles
The method used to prepare this guideline was determined by the class to which this guideline was assigned. The AWMF Guidance Manual (version 1.0) has set out the respective rules and requirements for different classes of guidelines. Guidelines are differentiated into lowest (S1), intermediate (S2), and highest (S3) class. The lowest class is defined as consisting of a set of recommendations for action compiled by a non-representative group of experts. In 2004, the S2 class was divided into two subclasses: a systematic evidence-based subclass (S2e) and a structural consensus-based subclass (S2k). The highest S3 class combines both approaches.
This guideline has been classified as: S2k
Grading of recommendations
The grading of evidence based on the systematic search, selection, evaluation and synthesis of an evidence base which is then used to grade recommendations is not envisaged for S2k guidelines. The different individual statements and recommendations are only differentiated linguistically, not by the use of symbols ( Table 3 ):
Table 3 Grading of recommendations (based on Lomotan et al., Qual Saf Health Care 2010).
| Description of binding character | Expression |
|---|---|
| Strong recommendation with highly binding character | must/must not |
| Regular recommendation with moderately binding character | should/should not |
| Open recommendation with limited binding character | may/may not |
Statements
Expositions or explanations of specific facts, circumstances or problems without any direct recommendations for action included in this guideline are referred to as “statements”. It is not possible to provide any information about the grading of evidence for these statements.
Achieving consensus and level of consensus
At structured NIH-type consensus-based conferences (S2k/S3 level), authorized participants attending the session vote on draft statements and recommendations. The process is as follows. A recommendation is presented, its contents are discussed, proposed changes are put forward, and finally, all proposed changes are voted on. If a consensus (> 75% of votes) is not achieved, there is another round of discussions, followed by a repeat vote. Finally, the extent of consensus is determined based on the number of participants ( Table 4 ).
Table 4 Level of consensus based on extent of agreement.
| Symbol | Level of consensus | Extent of agreement in percent |
|---|---|---|
| +++ | Strong consensus | > 95% participants agree |
| ++ | Consensus | > 75 – 95% participants agree |
| + | Majority agreement | > 50 – 75% participants agree |
| – | No consensus | < 51% participants agree |
Expert consensus
As the term already indicates, this refers to consensus decisions taken specifically with regard to recommendations/statements issued without a prior systematic search of the literature (S2k) or where evidence is lacking (S2e/S3). The term “expert consensus” (EC) used here is synonymous with terms used in other guidelines such as “good clinical practice” (GCP) or “clinical consensus point” (CCP). The strength of the recommendation is graded as previously described in the chapter on the grading of recommendations; it is only expressed semantically (“must”/“must not” or “should”/“should not” or “may”/“may not”) without the use of symbols.
IV Guideline
1 Epidemiology
The data on the epidemiology of genital malformations tended to be older and was usually obtained from retrospective studies and case reports 1 , 2 .
2 Etiology of anomalies of the Mullerian ducts
3 Classification
For many years, the standard classification of malformations was the classification of the American Fertility Society (AFS). The variation in the presentations of malformations led to the development of the VCUAM classification 3 and the ESHRE/ESGE classification 4 . Both classifications are based on anatomical structures. It is important in this context to also take associated malformations into account.
4 Diagnosis
5 Transition
5.1 Introduction and definition
5.2 Associated malformations
5.3 Multidisciplinary team
5.4 The specific objectives of the transition period
6 Malformations of the vulva
Recreation of the form and function of the external female genitalia is based on re-establishing their morphological features 5 .
Because of the complexity of possible anatomical impairments, in addition to general surgery, reconstructive surgery of the external female genitalia must also include specialized procedures to achieve the optimal outcome 6 .
7 Malformations of the vagina
7.1 Vaginal septa
(ESHRE/ESGE Class V1 – 3; VCUAM V1 – 5)
7.1.1 Longitudinal non-obstructive septum (V1)
(ESHRE/ESGE Class V1; VCUAM V2)
7.1.1.1 Diagnosis
A speculum examination is usually indispensable to make a definitive diagnosis of longitudinal vaginal septum.
In more than 87% of cases, vaginal septa are associated with uterine malformations. The patient must also be examined for anomalies of the kidney and urinary tract system, which are often also present in these patients 7 , 8 .
7.1.1.2 Therapy
The treatment of choice consists of dissection of the septum using two long straight clamps.
7.1.2 Longitudinal obstructive vaginal septum
(ESHRE/ESGE Class V2; VCUAM V5a)
7.1.2.1 Diagnosis
A speculum examination is indispensable to obtain a definitive diagnosis of obstructive longitudinal septum, most of which are located in the vicinity of the cervix, and to decide on the appropriate therapeutic approach. Hematocolpos and in some cases hematometra on the obstructed side are visible on ultrasound imaging as well as kidney anomalies in many cases. In recent years, 3D sonography has become increasingly important for diagnosis 9 , 10 .
Magnetic resonance imaging (MRI) may be useful to obtain a differential diagnosis of different obstructive malformations 11 , 12 .
7.1.2.2 Therapy
Treatment consists of resection of the septum, with tissue at the protruding site first aspirated with a cannula followed by sharp resection of part of the septum. It is important to avoid stenosis.
7.1.3 Imperforate hymen and transverse vaginal septum
(ESHRE/ESGE Class V3; VCUAM V1b)
7.1.3.1 Imperforate hymen
7.1.3.1.1 Diagnosis
Bulging of the hymen is visible on examination. Hematocolpos and in some cases hematometra are visible on ultrasound examination.
7.1.3.1.2 Therapy
Surgical correction is carried out with central incision of the hymen and resection, with placement of a bladder catheter in the vagina and laser or monopolar electrocautery. Most procedures use a cruciate or circular incision 12 , 13 .
7.1.3.2 Transverse vaginal septum
7.1.3.2.1 Diagnosis
The diagnosis is made based on speculum examination combined with ultrasound and, in some cases, MRI if required.
7.1.3.2.2 Therapy
Surgical treatment consists of excision of the septum. In complex cases and cases with a thick-walled septum, treatment must often be combined with an abdominal approach (laparoscopy or laparotomy) as well as flap reconstruction where necessary 14 .
7.2 Vaginal aplasia
(ESHRE/ESGE Class V4; VCUAM V5b)
7.2.1 Diagnosis
The majority of cases have a blind vaginal dimple just a few centimeters in length and either uterine agenesis or a rudimentary uterus in the form of two aplastic uterine buds visible on ultrasound examination. Sonography of the kidneys may lead to the diagnosis of associated malformations. MRI may be used to detect additional associated malformations and characterize rudimentary Mullerian ducts 15 , 16 .
7.2.2 Therapy
The goal of therapy for vaginal aplasia is the creation of a sufficiently long and wide neovagina. Numerous conservative and surgical methods for the creation of a neovagina have been described in the literature. An overview of individual procedures is given in Table 5 .
Table 5 Overview of methods used to treat vaginal malformations.
| Method | Advantages | Disadvantages | Complications |
|---|---|---|---|
| Non-surgical Frank self-dilation | No surgical risks, no surgical complications, no anesthesia | Protracted therapy, painful, requires maximum motivation and stringent guidance, continuous maintenance treatment is necessary as the neovagina has a tendency to shrink if the patient does not have regular sexual intercourse, length of the neovagina is rather small | Risk of using the wrong technique with dilation of the urethra, urethrovaginal/rectovaginal fistula, risk of prolapse |
| Surgical methods | |||
| 1. Creation of a neovagina through dissection of the area between the bladder and rectum (rectovesical tunneling) with a graft | Tendency to shrink, making regular dilation or regular sexual activity necessary postoperatively; in some cases, visible scar at the graft site (split-thickness skin graft), no lubrication to moderate lubrication, hair growth | Prolapse, fistulas, injury to the intestine and bladder, carcinoma development, formation of granulation tissue is common | |
| 1.1 McIndoe vaginoplasty and modifications | McIndoe procedure: relatively simple method, no abdominal approach required; can be used in cases with a functional uterus | ||
| 1.2 Davydov procedure | Davydov procedure: good vaginal length, also possible in cases with genital scars from prior surgical procedures | ||
| 2. Creation of a neovagina by dissection of the area between the bladder and rectum (rectovesical tunneling) without a transplant/graft | |||
| 2.1 Wharton-Sheares-George method | Relatively simple method when duct structures are visible, no abdominal approach required | Tendency to shrink, regular lifelong maintenance dilation or sexual activity required postoperatively, granulation tissue | Formation of cystoceles/rectoceles, dehiscence |
| 3. Flap reconstruction 3.1 Full-thickness skin transplants with flap reconstruction to form the vaginal lining 3.2 Vulvovaginal reconstruction |
No abdominal approach required, primary wound healing, few stenoses, good success rates | Hair growth in the neovagina, discharge, fistulas, dyspareunia, scar formation at the graft/transplant site, non-physiological anatomy/angle of the neovagina | Flap necrosis, wound healing disorders, infection, incontinence, thromboembolisms, granulation tissue, prolapse |
| 4. Bowel vaginoplasty | Less likely to shrink, good lubrication, often does not require subsequent treatment with a vaginal mold | Complex surgical procedure, excessive malodorous discharge, dyspareunia, scar formation | Serious complications including mortality, bladder/bowel injury, infections, anastomotic insufficiency, ileum, tendency to prolapse, colitis, carcinoma development, granulation tissue |
| 4. Surgical dilation with traction 4.1 Vecchietti procedure with modifications 4.2 Balloon-based method |
Good success rates, physiologically functional vaginal epithelium, good lubrication, no prolapse reported to date, short traction time, no long-term use of dilators required, can even be safely used in cases with a pelvic kidney | Special instruments required, requires sufficient analgesia during traction, postoperative treatment with a vaginal mold necessary for several months | Intestinal injury, bladder injury, granulation tissue |
7.2.2.1 Non-surgical methods
This method of vaginal dilation, which is carried out by the patient herself, was first described in 1938 by Frank 17 .
7.2.2.2 Surgical methods
Creation of a neovagina with dissection of the area between the bladder and rectum (rectovesical tunneling) and transplantation.
7.2.2.2.1 McIndoe vaginoplasty and modifications
Tunneling to create the neovagina is extended to the peritoneum of the pouch of Douglas. A split-thickness skin transplant, usually taken from the patientʼs buttock or thigh, is used to cover the neovagina.
7.2.2.2.2 Davydov procedure
The original procedure has largely been superseded by a laparoscopic approach, which results in less blood loss and less postoperative pain, shorter hospital stays, quicker recovery times, and better cosmetic results 18 , 19 .
7.2.2.3 Surgical methods
Creation of a neovagina with dissection of the area between the bladder and rectum (rectovesical tunneling) without a transplant.
7.2.2.3.1 Wharton-Sheares-George method
The George modification of the Wharton-Sheares method 20 no longer requires primary coverage of the surgically created cavity with a (autologous or heterologous) tissue graft and thereby avoids the problems associated with such transplants.
7.2.2.4 Flap reconstruction
7.2.2.4.1 Full-thickness skin transplants with flap-plasty reconstruction for vaginal coverage
The problem with the majority of these methods is that they leave visible scars, keloids may form, and lubrication is insufficient.
7.2.2.4.2 Vulvovaginal reconstruction
Objections to the use of this method include the abnormal location of the neovagina, which is awkwardly angled for sexual intercourse, and the lack of lubrication in some cases.
7.2.2.5 Bowel vaginoplasty
After creation of a tunnel between the rectum and the bladder, an isolated bowel segment is brought to the neovagina and sutured at the introitus 21 .
7.2.2.6 Surgical dilation with traction
Vecchietti procedure and modifications
By connecting an olive-shaped dilator via traction threads to a traction device positioned on the abdomen close to the lower edge of the navel (subumbilical or suprapubic location), traction can be increased every day, resulting in the creation of a neovagina with a length of 10 – 12 cm within the space of 4 – 7 days 22 , 23 .
8 Malformations of the cervix
8.1 Double cervix
(ESHRE/ESGE C1+2; VCUAM C1)
8.1.1 Special diagnostic work-up
Congenital cervical anomalies are extremely rare malformations.
A double cervix is the result of a complete Mullerian fusion defect at the level of the cervix. The diagnosis is based on clinical examination, imaging using ultrasound and MRI and invasive endoscopy.
8.1.2 Therapy
The therapeutic focus is on treating associated malformations of the vagina and uterus.
8.2 Cervical aplasia
(ESHRE/ESGE C3 + 4; VCUAM C2a/b)
8.2.1 Special diagnostic work-up
The full clinical picture of cervical aplasia is complete cervical agenesis. However, the literature also includes reports of obstructed cervix, cervical remnants, or a cord of connective tissue 24 .
Depending on the type of malformation, symptoms may be primary amenorrhea or cryptomenorrhea with lower abdominal pain occurring at cyclical intervals in cases with obstructive malformation; symptoms may also be entirely lacking or consist only of primary sterility 25 .
The diagnosis is made based on clinical examination, imaging using ultrasound and MRI and invasive endoscopy.
8.2.2 Therapy
Treatment consists of surgery, which may take the form of hysterectomy or reconstruction using a cervico-cervical or uterovaginal anastomosis 21 , 26 .
When deciding on the appropriate treatment, it is important to consider potential complications if the patients become pregnant, for example, associated disorders of placentation 27 .
Footnotes
Conflict of Interest/Interessenkonflikt The conflicts of interest of all of the authors are listed in the German-language long version of the guideline./Die Interessenkonflikte der Autoren sind in der Langfassung der Leitlinie aufgelistet.
Consensus-based Statement 1.S1.
Expert consensus
Level of consensus +++
The incidence of genital malformations in the general female population is between 3.0 – 6.7%; it is more than 7% in sterility patients and around 17% in patients who suffer recurrent pregnancy loss.
Compared to the normal population, the miscarriage rates, particularly in patients with uterine malformations, are significantly higher.
Consensus-based Statement 2.S2.
Expert consensus
Level of consensus +++
Specific microdeletions and microduplications may result in anomalies of the Mullerian ducts.
Mutations of genes such as LHX1, WNT4 and WNT9B are associated with anomalies of the Mullerian ducts.
Consensus-based Recommendation 3.E1.
Expert consensus
Level of consensus +++
ESHRE/ESGE or VCUAM classifications should be used to reproducibly record malformations.
Consensus-based Statement 3.S3.
Expert consensus
Level of consensus +++
The ESHRE/ESGE & VCUAM anatomical classifications currently offer the best option to adequately describe malformations.
Consensus-based Recommendation 4.E2.
Expert consensus
Level of consensus +++
A detailed diagnostic work-up and interdisciplinary counseling is recommended in cases where there is a prenatal suspicion of genital malformation.
Consensus-based Statement 4.S4.
Expert consensus
Level of consensus +++
Findings obtained during ultrasound screening may indicate genital malformations.
Consensus-based Recommendation 4.E3.
Expert consensus
Level of consensus +++
During childhood screening, it is important to look out for female genital malformations. A detailed diagnostic work-up and, if necessary, interdisciplinary counseling is recommended in cases where there is a suspicion of genital malformation. When children and adolescents are examined, they must be protected from unjustified diagnostic measures.
Consensus-based Statement 4.S5.
Expert consensus
Level of consensus +++
The diagnostic work-up in cases where there is a suspicion of female genital malformation requires a lot of experience, an atmosphere and instruments which are suitable for children, and an examiner who must be able to empathize well with children and adolescents.
Consensus-based Recommendation 4.E4.
Expert consensus
Level of consensus +++
If female genital malformations are found to be present, the examiner must investigate whether there is any association with other anatomical malformations, syndromes or symptom complexes. When imaging is carried out, preference must be given to methods which do not use ionizing radiation. The method of choice is ultrasound examination.
Consensus-based Statement 4.S6.
Expert consensus
Level of consensus +++
Female genital malformations may be associated with anomalies of the kidney and urinary system. Female genital malformations may be part of a syndrome.
Consensus-based Recommendation 5.E5.
Expert consensus
Level of consensus +++
During the period of transition, adolescents with genital malformations must be prepared for the changes which will occur during the three stages of puberty, and transitional care must take account of the patientʼs level of maturity.
Transition must include long-term care and continuous support into adulthood.
Consensus-based Statement 5.S7.
Expert consensus
Level of consensus +++
In puberty, many adolescents with chronic disease who need to take regular medication increasingly begin to evade medical control, exhibit poorer compliance, and often disappear during transition (“lost in transition”). This has a negative impact on the health and life expectancy of the affected patients.
Consensus-based Recommendation 5.E6.
Expert consensus
Level of consensus +++
Before performing a complex surgical intervention, specialist follow-up care, including long-term care, must be discussed and the transition must be assured.
Female adolescents with urogenital malformations must be examined by a specialist for pediatric and adolescent gynecology early on, at the latest from Tanner stage B3, to detect associated malformations and exclude associated outflow obstructions.
Consensus-based Statement 5.S8.
Expert consensus
Level of consensus +++
Female genital malformations, repeated genital operations, and function disorders such as incontinence may lead to feelings of insecurity and a permanent rejection of sexuality and intimacy. A doctor-patient relationship built on trust may reinforce treatment adherence and improve compliance in puberty.
Consensus-based Recommendation 5.E7.
Expert consensus
Level of consensus +++
The presentation and treatment of children and adolescents with complex genital malformations must be discussed by a multidisciplinary team and must be supported by a specialist trained in pediatric and adolescent gynecology, including during the transition stage.
Consensus-based Statement 5.S9.
Expert consensus
Level of consensus +++
Centers which carry out surgical procedures in children and adolescents with genital malformations must discuss counseling and the proposed treatment concept in an interdisciplinary forum which includes representatives from all medical and psychosocial specialties involved, which must also include pediatric and adolescent gynecology. The transition must be planned long-term.
Consensus-based Recommendation 5.E8.
Expert consensus
Level of consensus +++
For girls with genital malformations, the transition must be carried out as described (see long version of this guideline). Central topics during transition, such as sex education, contraception, early preconception counseling and support to become more independent, are particularly important for persons with genital malformations and must be done with care and the appropriate specialist knowledge.
Consensus-based Statement 5.S10.
Expert consensus
Level of consensus +++
For girls with genital, urogenital, or anogenital malformations, receiving the right care and support during transition is essential.
Consensus-based Recommendation 6.E9.
Expert consensus
Level of consensus +++
For reconstructive surgery of the vulva, the treating physician or surgeon must have a detailed knowledge of microsurgical anatomy and a good understanding of this anatomical region as a composite of different anatomical entities.
Consensus-based Statement 6.S11.
Expert consensus
Level of consensus +++
Congenital malformations of the external female genitalia and their treatment may have a significant impact on the psychosocial and psychosexual integrity of affected patients.
The region of the external female genitalia must be understood as a “composite of different anatomical entities”.
Complex reconstructions of the vulva require a surgeon with a detailed knowledge of the specific anatomy and of reconstructive plastic surgery procedures.
Consensus-based Recommendation 7.E10.
Expert consensus
Level of consensus +++
Surgical treatment of longitudinal non-obstructive vaginal septa must be considered at any time if the patient reports symptoms or to facilitate vaginal delivery if the patient is planning to become pregnant. Cf. also Chapter 13 in Part 2 of the Guideline.
Consensus-based Statement 7.S12.
Expert consensus
Level of consensus +++
Longitudinal non-obstructive vaginal septa are often asymptomatic.
Consensus-based Recommendation 7.E11.
Expert consensus
Level of consensus +++
Obstructive vaginal septa which become symptomatic in puberty usually require prompt surgical treatment. A detailed diagnosis must be obtained prior to surgery. The treating surgeon should have the appropriate expertise.
Consensus-based Statement 7.S13.
Expert consensus
Level of consensus +++
Obstructive longitudinal and transverse vaginal septa may become symptomatic in the neonatal period (mucocolpos) or often only when symptoms appear in puberty (hematocolpos). The severity of the procedure ranges from relatively simple to highly complex.
Consensus-based Recommendation 7.E12.
Expert consensus
Level of consensus +++
Vaginal self-dilation may be considered as a primary therapy for a highly motivated and well-trained patient if the patient initially or generally rejects surgery or has a significantly higher surgical risk. The treating physician should have the necessary level of expertise.
Consensus-based Statement 7.S14.
Expert consensus
Level of consensus +++
The patient must exert pressure on the existing vaginal dimple every day for at least 30 minutes over a period of several months using vaginal stents with gradually increasing lengths and widths.
May be carried out prior to planned uterus transplantation.
Consensus-based Recommendation 7.E13.
Expert consensus
Level of consensus +++
The McIndoe procedure may be the method of choice for patients who previously had extensive abdominal operations or have a functional uterus. The treating physician should have the necessary level of expertise.
Consensus-based Statement 7.S15.
Expert consensus
Level of consensus +++
The original McIndoe method used a split-thickness skin transplant to cover the neovagina, usually taken from the patientʼs buttock or thigh.
May be carried out prior to planned uterus transplantation.
Consensus-based Recommendation 7.E14.
Expert consensus
Level of consensus +++
The Davydov method can also be used after prior genital surgery with scar formation as the vaginal epithelium does not need to be elastic. The treating physician should have the necessary level of expertise.
Consensus-based Statement 7.S16.
Expert consensus
Level of consensus +++
The primary procedure with the Davydov method consists of dissection of the rectovesical space. This is followed by mobilization of the peritoneum using a transabdominal approach; peritoneal tissue is then pulled through the newly created space and sutured close to the introitus. The vault of the neovagina is sutured using purse-string sutures.
Consensus-based Recommendation 7.E15.
Expert consensus
Level of consensus +++
The modified Wharton-Sheares method may be used as a primary procedure in cases with visibly obliterated Mullerian ducts. There are currently no outcome data available on whether this procedure can be used in cases with pelvic kidneys.
The treating physician should have the necessary level of expertise.
Consensus-based Statement 7.S17.
Expert consensus
Level of consensus +++
With the Wharton-Sheares-George method, creation of the neovagina begins with a step-by-step dilation of the vestigial Mullerian ducts using Hegar dilatators of increasing size. May be carried out prior to planned uterus transplantation.
Consensus-based Recommendation 7.E16.
Expert consensus
Level of consensus +++
Because of scar formation, the complexity of the procedure, and the potential risk of flap loss, flap reconstruction is reserved for patients with malignant disease and a consequent need for exenteration or other extensive pelvic surgical procedures. The treating physician should have the necessary level of expertise.
Consensus-based Statement 7.S18.
Expert consensus
Level of consensus +++
A number of procedures which used gracilis, gluteus, vulvoperineal or scapular flaps were described in the 1980s and 1990s, but these procedures are used less often today.
Consensus-based Recommendation 7.E17.
Expert consensus
Level of consensus +++
Because of scar formation, the complexity of the procedure, and the potential risk of flap loss, flap reconstruction is reserved for patients with malignant disease and a consequent need for exenteration or other extensive pelvic surgical procedures. The treating physician should have the necessary level of expertise.
Consensus-based Statement 7.S19.
Expert consensus
Level of consensus +++
Williams was the first to describe this technique in which an external pouch is created by suturing the labia majora together to form a short vertical vagina.
Consensus-based Recommendation 7.E18.
Expert consensus
Level of consensus +++
Using bowel segments for vaginal reconstruction in cases with complex urogenital malformations is an established method in pediatric urology/surgery. In contrast, because of the high complication rates and extensive surgery needed when treating adult patients, this method is reserved for patients with primary oncologic problems or patients who had previous extensive surgery. The treating physician should have the necessary level of expertise.
Consensus-based Statement 7.S20.
Expert consensus
Level of consensus +++
In intestinal vaginoplasty, the ileum, rectum or sigmoid colon are generally used to create a neovagina.
Not recommended prior to a planned uterus transplantation because of the increased risk of infection from intestinal flora.
Consensus-based Recommendation 7.E19.
Expert consensus
Level of consensus +++
Based on the many women treated with this approach worldwide and the few reported complications, this is another primary surgical method which can be used to treat congenital malformations; it is particularly suitable for patients with associated kidney malformations and does not require lifelong dilation. The treating physician should have the necessary level of expertise.
Consensus-based Statement 7.S21.
Expert consensus
Level of consensus +++
The basic principle of this method consists of using an olive-shaped dilator or phantom dilator to exert passive traction on the vaginal dimple.
May be carried out prior to planned uterus transplantation.
Consensus-based Recommendation 8.E20.
Expert consensus
Level of consensus +++
Treatment focuses on correcting associated malformations (uterus, vagina). Resection of the cervical duplication should not be carried out because of the non-assessable risk of cervical insufficiency in pregnancy.
Consensus-based Statement 8.S22.
Expert consensus
Level of consensus +++
A double cervix is a complete fusion defect at the level of the cervix.
Anomalies of the cervix are rare.
Primary sterility may be present.
Both resection of the duplication and leaving it in situ have been described in the literature.
Consensus-based Recommendation 8.E21.
Expert consensus
Level of consensus +++
Drug therapy must be administered as a temporary conservative procedure to suppress proliferation of the endometrium. Possible treatment options include reconstructive procedures, hysterectomy or hemi-hysterectomy. The patient must be informed that a successful pregnancy is very rare, even after reconstruction.
Consensus-based Statement 8.S23.
Expert consensus
Level of consensus +++
Cervical aplasia refers to complete absence of the cervix, but dysgeneis of the cervix can take many different forms. Cervical aplasia may present as an isolated malformation or occur in combination with other Mullerian malformations.
Depending on the type of malformation, clinical symptoms consist of primary amenorrhea or cryptomenorrhea with cyclically occurring pain of the lower abdomen, but symptoms may be entirely lacking or consist only of primary sterility.
Konsensbasiertes Statement 1.S1.
Expertenkonsens
Konsensusstärke +++
Die Inzidenz genitaler Fehlbildungen liegt in der weiblichen Allgemeinbevölkerung bei 3,0 – 6,7%, über 7% bei Sterilitätspatientinnen und ca. 17% bei Patientinnen mit habituellen Aborten.
Im Vergleich zur Normalbevölkerung resultieren bei vorhandener, insbesondere uteriner Fehlbildung signifikant höhere Abortraten.
Konsensbasiertes Statement 2.S2.
Expertenkonsens
Konsensusstärke +++
Bestimmte Mikrodeletionen und Mikroduplikationen können Störungen der Müllerʼschen Gänge hervorrufen.
Mutationen in Genen wie LHX1, WNT4 und WNT9B gehen mit Störungen der Müllerʼschen Gänge einher.
Konsensbasierte Empfehlung 3.E1.
Expertenkonsens
Konsensusstärke +++
Um eine Fehlbildung replizierbar zu erfassen, sollten die Klassifikationen ESHRE/ESGE oder VCUAM benutzt werden.
Konsensbasiertes Statement 3.S3.
Expertenkonsens
Konsensusstärke +++
Die anatomischen Klassifikationen ESHRE/ESGE & VCUAM bieten derzeit die beste Option, eine Fehlbildung suffizient abzubilden.
Konsensbasierte Empfehlung 4.E2.
Expertenkonsens
Konsensusstärke +++
Bei pränatalem V. a. eine Genitalfehlbildung ist die weiterführende Abklärung, Diagnostik und interdisziplinäre Beratung an entsprechenden Einrichtungen zu empfehlen.
Konsensbasiertes Statement 4.S4.
Expertenkonsens
Konsensusstärke +++
Im Rahmen der Ultraschallscreeninguntersuchungen erhobene Befunde können auf Genitalfehlbildungen hinweisen.
Konsensbasierte Empfehlung 4.E3.
Expertenkonsens
Konsensusstärke +++
Bei Vorsorgeuntersuchungen im Kindesalter sollte auf weibliche Genitalfehlbildungen geachtet werden. Bei V. a. eine Genitalfehlbildung ist die weiterführende Abklärung, Diagnostik und ggf. interdisziplinäre Beratung zu empfehlen. Bei Kindern und Jugendlichen soll auf den Schutz vor ungerechtfertigten diagnostischen Maßnahmen geachtet werden.
Konsensbasiertes Statement 4.S5.
Expertenkonsens
Konsensusstärke +++
Die Diagnostik bei V. a. weibliche genitale Fehlbildungen im Kindes- und Jugendalter setzt viel Erfahrung, ein kindgerechtes Instrumentarium und Ambiente sowie ein gutes Einfühlungsvermögen der Untersucher voraus.
Konsensbasierte Empfehlung 4.E4.
Expertenkonsens
Konsensusstärke +++
Bei Vorliegen von weiblichen genitalen Fehlbildungen soll auf die Assoziation zu anderen anatomischen Fehlbildungen, Syndromen oder Symptomkomplexen geachtet werden. Bei der Bildgebung sollen Methoden ohne ionisierende Strahlung bevorzugt eingesetzt werden. Mittel der Wahl ist der Ultraschall.
Konsensbasiertes Statement 4.S6.
Expertenkonsens
Konsensusstärke +++
Anomalien der Nieren und des harnableitenden Systems können mit weiblichen genitalen Fehlbildungen assoziiert sein. Weibliche genitale Fehlbildungen können Bestandteil von Syndromen sein.
Konsensbasierte Empfehlung 5.E5.
Expertenkonsens
Konsensusstärke +++
Jugendliche mit genitalen Fehlbildungen sollen während der 3 Phasen der Pubertät entsprechend ihrer Reife auf die Transition vorbereitet werden.
Die Transition soll eine längerfristige und kontinuierliche Begleitung in die Erwachsenenzeit umfassen.
Konsensbasiertes Statement 5.S7.
Expertenkonsens
Konsensusstärke +++
Viele Jugendliche mit chronischen Erkrankungen und Medikamenteneinnahme entziehen sich während der Pubertät zunehmend der ärztlichen Kontrolle, zeigen eine schlechtere Compliance und gehen oft in der Transition verloren („Lost in Transition“), was sich negativ auf Gesundheit und Lebenserwartung der Betroffenen auswirkt.
Konsensbasierte Empfehlung 5.E6.
Expertenkonsens
Konsensusstärke +++
Bevor ein komplexer operativer Eingriff vorgenommen wird, soll die fachlich kompetente Nachbetreuung, auch längerfristig, besprochen und die Transition sichergestellt werden.
Um assoziierte Fehlbildungen rechtzeitig zu erkennen, sollen weibliche Jugendliche mit urogenitaler Fehlbildung spätestens ab Tanner-Stadium B3 von einer kinder- und jugendgynäkologisch ausgebildeten Fachperson untersucht und eine entsprechende Abflussbehinderung ausgeschlossen werden.
Konsensbasiertes Statement 5.S8.
Expertenkonsens
Konsensusstärke +++
Weibliche genitale Fehlbildungen, wiederholte genitale Operationen und Funktionsstörungen wie Inkontinenz können zu Verunsicherung und bleibender Ablehnung von Sexualität und Intimität führen. Eine vertrauensvolle Arzt-Patient-Beziehung in der Zeit der Pubertät kann die Therapietreue stärken und die Compliance verbessern.
Konsensbasierte Empfehlung 5.E7.
Expertenkonsens
Konsensusstärke +++
Kinder und Jugendliche mit komplexen genitalen Fehlbildungen sollen in einem multidisziplinären Team besprochen und von einer in Kinder- und Jugendgynäkologie geschulten Fachperson auch in der Transition begleitet werden.
Konsensbasiertes Statement 5.S9.
Expertenkonsens
Konsensusstärke +++
Zentren, die Operationen bei Kindern und Jugendlichen mit genitalen Fehlbildungen vornehmen, sollen die Beratung und das Therapiekonzept interdisziplinär mit Vertretern aller beteiligten medizinischen und psychosozialen Fachbereichen unter Einbezug der Kinder- und Jugendgynäkologie besprechen und die Transition langfristig planen.
Konsensbasierte Empfehlung 5.E8.
Expertenkonsens
Konsensusstärke +++
Bei Mädchen mit genitaler Fehlbildung soll die Transition entsprechend einer Checkliste (siehe Langfassung) erfolgen. Zentrale Themen der Transition wie Sexualaufklärung, Kontrazeption, frühzeitige präkonzeptionelle Beratung sowie Unterstützung der Eigenständigkeit sind gerade bei Personen mit genitalen Fehlbildungen besonders wichtig und sollen sorgfältig und mit entsprechendem Fachwissen erfolgen.
Konsensbasiertes Statement 5.S10.
Expertenkonsens
Konsensusstärke +++
Für Mädchen mit genitaler, urogenitaler oder anogenitaler Fehlbildung ist die korrekte Begleitung und Unterstützung in der Transition essenziell.
Konsensbasierte Empfehlung 6.E9.
Expertenkonsens
Konsensusstärke +++
Für rekonstruktive Chirurgie an der Vulva sollen die Behandelnden über mikrochirurgisch-anatomische Expertise verfügen und diese Region als Komposition verschiedener anatomischen Einheiten verstehen.
Konsensbasiertes Statement 6.S11.
Expertenkonsens
Konsensusstärke +++
Angeborene Fehlbildungen des äußeren weiblichen Genitales und deren Behandlungen können mit einer erheblichen Beeinflussung der psychosozialen, aber auch psychosexuellen Integrität der betroffenen Patientinnen einhergehen.
Die Region des äußeren weiblichen Genitales ist als „Komposition verschiedener anatomischer Einheiten“ zu verstehen.
Komplexe Rekonstruktionen der Vulva verlangen vom Operateur eingehende Kenntnisse der speziellen Anatomie und plastisch-rekonstruktiver Operationsverfahren.
Konsensbasierte Empfehlung 7.E10.
Expertenkonsens
Konsensusstärke +++
Eine operative Therapie longitudinaler nicht obstruierender Vaginalsepten soll jederzeit bei Beschwerden oder aber bei geplanter Schwangerschaft zur Erleichterung einer vaginalen Entbindung erwogen werden. Siehe auch Kapitel 13 in Teil 2 der Leitlinie.
Konsensbasiertes Statement 7.S12.
Expertenkonsens
Konsensusstärke +++
Longitudinale nicht obstruierende Vaginalsepten sind nicht selten asymptomatisch.
Konsensbasierte Empfehlung 7.E11.
Expertenkonsens
Konsensusstärke +++
Obstruierende Vaginalsepten, die in der Pubertät symptomatisch werden, sollen in der Regel zeitnah operativ therapiert werden. Eine detaillierte Diagnostik soll vor dem operativen Vorgehen erfolgen. Für die Behandlung sollte eine entsprechende Expertise vorhanden sein.
Konsensbasiertes Statement 7.S13.
Expertenkonsens
Konsensusstärke +++
Obstruierende longitudinale und transversale Vaginalsepten werden in der Neugeborenenphase (Mukokolpos) oder häufig erst bei Beschwerden in der Pubertät (Hämatokolpos) symptomatisch. Der Schweregrad der Eingriffe reicht von relativ einfach bis hochkomplex.
Konsensbasierte Empfehlung 7.E12.
Expertenkonsens
Konsensusstärke +++
Die Selbstdehnungstherapie kann bei hoch motivierter, gut angeleiteter Patientin als Primärtherapie erwogen werden, wenn diese einem operativem Vorgehen zunächst oder überhaupt ablehnend gegenübersteht oder deutlich erhöhte OP-Risiken aufweist. Für die Behandlung sollte eine entsprechende Expertise vorhanden sein.
Konsensbasiertes Statement 7.S14.
Expertenkonsens
Konsensusstärke +++
Mithilfe von an Länge und Weite zunehmenden Vaginalstents soll die Patientin täglich über mehrere Monate für mindestens 30 Minuten Druck auf das vorhandene Vaginalgrübchen ausüben.
Anwendbar vor geplanter Uterustransplantation.
Konsensbasierte Empfehlung 7.E13.
Expertenkonsens
Konsensusstärke +++
Die McIndoe-Technik kann als Methode der Wahl bei Patientinnen nach ausgedehnten abdominalen Voroperationen oder mit funktionsfähigem Uterus angesehen werden. Für die Behandlung sollte eine entsprechende Expertise vorhanden sein.
Konsensbasiertes Statement 7.S15.
Expertenkonsens
Konsensusstärke +++
Die originale McIndoe-Technik verwendet ein Spalthauttransplantat zur Deckung der Neovagina, welches meist von Gesäß oder Oberschenkel der Patientin stammt.
Anwendbar vor geplanter Uterustransplantation.
Konsensbasierte Empfehlung 7.E14.
Expertenkonsens
Konsensusstärke +++
Für die Davydov-Methode gilt, dass sie auch angewandt werden kann nach vorausgegangener genitaler Operation mit Narbenbildung, da das Vaginalepithel nicht elastisch sein muss. Für die Behandlung sollte eine entsprechende Expertise vorhanden sein.
Konsensbasiertes Statement 7.S16.
Expertenkonsens
Konsensusstärke +++
Beim Davydov erfolgt primär eine Dissektion des rektovesikalen Raum. Anschließend wird von transabdominal das Peritoneum mobilisiert, durch den geschaffenen Raum gezogen und im Bereich des Introitus angenäht. Der Verschluss des Apex der Neovagina erfolgt mit einer Tabaksbeutelnaht.
Konsensbasierte Empfehlung 7.E15.
Expertenkonsens
Konsensusstärke +++
Die Methode nach Wharton-Sheares kann bei sichtbaren obliterierten Müllerʼschen Gängen als eine der primären Methode eingesetzt werden. Es liegen aber bisher keine Outcome-Daten vor, inwieweit diese bei insbesondere Beckennieren anwendbar ist.
Für die Behandlung sollte eine entsprechende Expertise vorhanden sein.
Konsensbasiertes Statement 7.S17.
Expertenkonsens
Konsensusstärke +++
Bei der Wharton-Sheares-George-Methode wird die Neovagina durch Sondierung der obliterierten Müllerʼschen Gänge durch Hegar-Stifte aufsteigender Größe geschaffen. Anwendbar vor geplanter Uterustransplantation.
Konsensbasierte Empfehlung 7.E16.
Expertenkonsens
Konsensusstärke +++
Aufgrund von Narbenbildung, Komplexität und potenzieller Lappenverluste bleiben Lappenplastiken Patientinnen mit malignen Erkrankungen und daraus resultierender Notwendigkeit zur Exenteration oder anderen ausgedehnteren pelvinen Operationen vorbehalten. Für die Behandlung sollte eine entsprechende Expertise vorhanden sein.
Konsensbasiertes Statement 7.S18.
Expertenkonsens
Konsensusstärke +++
Verfahren wie Gracilis-, Glutaeus-, Vulvoperineal- oder Skapulalappen wurden vermehrt in den 1980er- und 1990er-Jahren beschrieben und werden heute seltener angewandt.
Konsensbasierte Empfehlung 7.E17.
Expertenkonsens
Konsensusstärke +++
Aufgrund von Narbenbildung, Komplexität und potenzieller Lappenverluste bleiben Lappenplastiken Patientinnen mit malignen Erkrankungen und daraus resultierender Notwendigkeit zur Exenteration oder anderen ausgedehnteren pelvinen Operationen vorbehalten. Für die Behandlung sollte eine entsprechende Expertise vorhanden sein.
Konsensbasiertes Statement 7.S19.
Expertenkonsens
Konsensusstärke +++
Williams beschrieb diese Technik als erster, bei der er einen externen Sack bildete, indem er die Labia majora so zusammennähte, dass sie eine kurze vertikale Vagina bildeten.
Konsensbasierte Empfehlung 7.E18.
Expertenkonsens
Konsensusstärke +++
In der Kinderurologie/-chirurgie stellt die Scheidenrekonstruktion mittels Darm bei komplexen urogenitalen Fehlbildungen eine etablierte Methode dar. Hierzu im Gegensatz ist diese OP-Methode aufgrund der hohen Komplikationsraten und der Größe des Eingriffs bei erwachsenen Patientinnen nur solchen mit primär onkologischen Fragestellungen oder nach ausgedehnten Voroperationen vorbehalten. Für die Behandlung sollte eine entsprechende Expertise vorhanden sein.
Konsensbasiertes Statement 7.S20.
Expertenkonsens
Konsensusstärke +++
Zur Anlage einer Darmscheide wurden bislang meist Ileum, Rektum und Sigma verwendet.
Nicht sinnvoll vor geplanter Uterustransplantation aufgrund erhöhter Infektionsgefahr bei Darmflora.
Konsensbasierte Empfehlung 7.E19.
Expertenkonsens
Konsensusstärke +++
Aufgrund der zahlenmäßigen Erfahrung mit wenigen Komplikationen weltweit stellt diese Therapie eine weitere primäre operative Methode bei angeborenen Fehlbildungen dar, da sie vor allem auch anwendbar ist bei assoziierten Nierenfehlbildungen und keine lebenslange Dilatation benötigt. Für die Behandlung sollte eine entsprechende Expertise vorhanden sein.
Konsensbasiertes Statement 7.S21.
Expertenkonsens
Konsensusstärke +++
Das Prinzip besteht darin, dass mithilfe einer Dehnungsolive oder eines Steckgliedphantoms passiver Zug auf das Vaginalgrübchen ausgeübt wird.
Anwendbar vor geplanter Uterustransplantation.
Konsensbasierte Empfehlung 8.E20.
Expertenkonsens
Konsensusstärke +++
Therapeutisch steht die Korrektur von Begleitfehlbildungen (Uterus, Vagina) im Vordergrund. Eine Resektion einer Cervix duplex sollte nicht durchgeführt werden, aufgrund des nicht abzuschätzenden Risikos einer Zervixinsuffizienz in der Schwangerschaft.
Konsensbasiertes Statement 8.S22.
Expertenkonsens
Konsensusstärke +++
Unter Cervix duplex versteht man den kompletten Fusionsdefekt auf Höhe der Zervix.
Anomalien der Zervix sind selten.
Eine primäre Sterilität kann vorliegen.
Das Belassen oder die Dissektion der Duplikatur sind beschrieben.
Konsensbasierte Empfehlung 8.E21.
Expertenkonsens
Konsensusstärke +++
Als temporärer konservativer Ansatz zur Unterdrückung der Endometriumproliferation soll eine medikamentöse Therapie verabreicht werden. Als Therapieoptionen können rekonstruktive Konzepte oder die Hysterektomie oder Hemihysterektomie erwogen werden. Es soll darüber aufgeklärt werden, dass auch nach einer Rekonstruktion eine erfolgreiche Schwangerschaft sehr selten ist.
Konsensbasiertes Statement 8.S23.
Expertenkonsens
Konsensusstärke +++
Zervixaplasie bezeichnet das komplette Fehlen der Zervix; gefunden werden aber auch dysgenetische Formen mit unterschiedlicher Ausprägung einer Zervixanlage. Die Zervixaplasie kommt isoliert oder kombiniert mit anderen Müllerʼschen Fehlbildungen vor.
Die klinische Symptomatik besteht je nach Ausprägung in primärer Amenorrhö oder Kryptomenorrhö mit zyklischen Unterbauchschmerzen, kann aber auch fehlen oder sich auf eine primäre Sterilität beschränken.
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