Geburtshilfe Frauenheilkd 2021; 81(12): 1307-1328
DOI: 10.1055/a-1471-4781
GebFra Science
Guideline/Leitlinie

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)

Article in several languages: English | deutsch
Peter Oppelt
1   Universitätsklinik für Gynäkologie, Geburtshilfe & gynäkologische Endokrinologie, Kepler Universitätsklinikum Linz, Austria
,
Helge Binder
1   Universitätsklinik für Gynäkologie, Geburtshilfe & gynäkologische Endokrinologie, Kepler Universitätsklinikum Linz, Austria
,
Jacques Birraux
2   Klinik für Kinderchirurgie, Universitätsklinikum Genf, Genf, Switzerland
,
Sara Brucker
3   Universitäts-Frauenklinik, Tübingen, Germany
,
Irene Dingeldein
4   Universitätsklinik für Frauenheilkunde, Insel Spital, Bern, Switzerland
,
Ruth Draths
5   Frauenpraxis Buchenhof, Sursee, Switzerland
,
Felicitas Eckoldt
6   Klinik für Kinderchirurgie, Universitätsklinikum Jena, Jena, Germany
,
Ulrich Füllers
7   Gynäkologische Tagesklinik, Krefeld, Germany
,
Olaf Hiort
8   Hormonzentrum für Kinder und Jugendliche – Lübeck, Universitätsklinikum Schleswig-Holstein, Lübeck, Germany
,
Dorit Hoffmann
9   Klinik für Kinder- und Jugendmedizin, Kantonsspital Winterthur, Winterthur, Switzerland
,
Markus Hoopmann
3   Universitäts-Frauenklinik, Tübingen, Germany
,
Jürgen Hucke
10   Klinik für Frauenheilkunde und Geburtshilfe, Agaplesion Bethesda Krankenhaus, Wuppertal, Germany
,
Matthias Korell
11   Klinik für Gynäkologie und Geburtshilfe, Johanna Etienne Krankenhaus, Neuss, Germany
,
Maritta Kühnert
12   Klinik für Geburtshilfe und Perinatalmedizin, Universitätsklinikum Marburg, Marburg, Germany
,
Barbara Ludwikowski
13   Klinik für Kinderchirurgie und -urologie, Kinder- und Jugendkrankenhaus auf der Bult, Hannover, Germany
,
Hans-Joachim Mentzel
14   Institut für Diagnostische und Interventionelle Radiologie, Universitätsklinikum Jena, Jena, Germany
,
Dan mon OʼDey
15   Klinik für Plastische, Rekonstruktive und Ästhestische Chirurgie und Handchirurgie, Luisenspital Aachen, Aachen, Germany
,
Katharina Rall
3   Universitäts-Frauenklinik, Tübingen, Germany
,
Michael Riccabona
16   Klinische Abteilung für Kinderradiologie, Universitätsklinikum Graz, Graz, Austria
,
Stefan Rimbach
17   Abteilung für Gynäkologie und Geburtshilfe, Krankenhaus Agatharied, Hausham, Germany
,
Norbert Schäffeler
18   Klinik für Psychosomatische Medizin und Psychotherapie, Universitätsklinikum Tübingen, Tübingen, Germany
,
Sandra Shavit
19   Klinik für Kinderchirurgie, Luzerner Kantonsspital, Luzern, Switzerland
,
Raimund Stein
20   Zentrum für Kinder-, Jugend- und Rekonstruktive Urologie, Universitätsmedizin Mannheim, Mannheim, Germany
,
Boris Utsch
21   Abteilung für Allgemeine Pädiatrie und Neonatologie, Universitätsklinikum Gießen/Marburg, Gießen, Germany
,
Rene Wenzl
22   Universitätsklinik für Frauenheilkunde, Medizinische Universität Wien, Wien, Austria
,
Peter Wieacker
23   Institut für Humangenetik, Universitätsklinikum Münster, Münster, Germany
,
Mazen Zeino
24   Universitätsklinik für Kinderchirurgie, Insel Spital, Bern, Switzerland
› Author Affiliations
 

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.


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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.


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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


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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


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Guideline authors

See [Tables 1] and [2].

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).


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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.


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Targeted areas of patient care

  1. Hospital care

  2. Outpatient care

  3. Day-patient care

  4. Senior consultant/medical specialist care


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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.


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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.


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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


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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


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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.


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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


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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.


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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].

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.


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2  Etiology of anomalies of the Mullerian ducts

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.


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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.

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.


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4  Diagnosis

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.


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5  Transition

5.1  Introduction and definition

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.


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5.2  Associated malformations

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.


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5.3  Multidisciplinary team

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.


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5.4  The specific objectives of the transition period

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.


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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].

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.

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].

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.


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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].


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7.1.1.2  Therapy

The treatment of choice consists of dissection of the septum using two long straight clamps.

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.


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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].


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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.


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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].


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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].

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.


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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].


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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].

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.


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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.

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.

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].

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.


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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.

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.


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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.

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.

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.

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.


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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].

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.


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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].

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.


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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.


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8.1.2  Therapy

The therapeutic focus is on treating associated malformations of the vagina and uterus.

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 +++

  1. A double cervix is a complete fusion defect at the level of the cervix.

  2. Anomalies of the cervix are rare.

  3. Primary sterility may be present.

  4. Both resection of the duplication and leaving it in situ have been described in the literature.


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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.


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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].

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 +++

  1. 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.

  2. 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.


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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.


Correspondence/Korrespondenzadresse

Prof. Peter Oppelt
Johannes Kepler University Linz
Gynecology, Obstetrics and gyn. Endocrinology
Krankenhausstraße 26–30
4020 Linz
Austria   

Publication History

Received: 28 March 2021
Received: 02 December 2020

Accepted: 28 March 2021

Article published online:
08 December 2021

© 2021. Thieme. All rights reserved.

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