Geburtshilfe Frauenheilkd 2021; 81(12): 1329-1347
DOI: 10.1055/a-1471-4988
GebFra Science
Guideline/Leitlinie

Diagnosis and Therapy of Female Genital Malformations (Part 2). Guideline of the DGGG, OEGGG and SGGG (S2k Level, AWMF Registry Number 015/052, May 2019)

Artikel in mehreren Sprachen: English | deutsch
Peter Oppelt
1   Universitätsklinik für Gynäkologie, Geburtshilfe & gynäkologische Endokrinologie, Kepler Universitätsklinikum Linz, Linz, Austria
,
Helge Binder
1   Universitätsklinik für Gynäkologie, Geburtshilfe & gynäkologische Endokrinologie, Kepler Universitätsklinikum Linz, 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
› Institutsangaben
 

Abstract

Objectives Female genital malformations may be present in 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 uterine appendages, the clinical picture of malformations varies greatly.

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 and voted on using a structured consensus process with neutral moderation.

Recommendations This guideline is the first comprehensive summary of female genital malformations from infancy to adulthood which covers clinical examinations, diagnostic workups and treatment options. Additional chapters have been included on complex urogenital malformations, vascular malformations, psychosomatic care, and tumor risk.


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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 2). Guideline of the DGGG, OEGGG and SGGG (S2k Level, AWMF Registry Number 015/052, May 2019). Geburtsh Frauenheilk 2021; 81: 1329–1347


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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

Target user group/target audience

This guideline is aimed at the following groups of people:

  • 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 pediatric radiology physicians

  • Hospital-based pediatric radiology physicians

  • 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., nursing staff.


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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% of participants agree

++

Consensus

> 75 – 95% of participants agree

+

Majority agreement

> 50 – 75% of participants agree

No consensus

< 51% of 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 but without the use of symbols; it is only expressed semantically (“must”/“must not” or “should”/“should not” or “may”/“may not”).


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IV  Guideline

9  Malformations of the uterus

Arcuate uterus/subseptate uterus/septate uterus

(VCUAM U1a – c; ESHRE/ESGE Class U 1 – 2)

9.1  Definition

Fusion of the Mullerian ducts has occurred but in cases with a single uterus, resorption of the sagittal septum either did not occur or was only partial. A subseptate uterus is defined as an outwardly almost normally shaped, often slightly wider uterus with a sagittal septum which does not create a separation across the entire length of the uterine cavity. A subseptate septum is longer than the indentation occurring with an arcuate uterus but shorter than the septum of a septate uterus. Septate uterus is used to describe a uterus in which the septum separates more than half of the uterine cavity, often extending down to the uterine cervix.


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9.2  Diagnostic imaging

The initial suspicion of uterine malformation is often based on two-dimensional ultrasound. A more precise differentiation can be obtained with 3D vaginal sonography and magnetic resonance imaging (MRI). Invasive diagnostic methods include hysteroscopy and laparoscopy. The outer contour of the uterus, thickness of the myometrial wall, a thickened fundus of uterus, the presence and extent of the central fundal indentation and the shape of the uterine cavity are diagnostic criteria. The key concern is to differentiate this malformation from bicornuate uterus.


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9.3  Arcuate uterus

(VCUAM U1a; ESHRE/ESGE Class U1)

Arcuate uterus may also be interpreted as the smallest manifestation of a uterine septum.

9.3.1  Specific features

There are no confirmed data on whether an arcuate uterus may cause sterility.


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9.3.2  Therapy

Surgical correction of an arcuate uterus should be carried out in patients with recurrent miscarriage. The procedure consists of a median incision of a wide septum using hysteroscopic scissors or the needle electrode of a resectoscope.


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9.4  Subseptate uterus

(VCUAM U1b; ESHRE/ESGE Class U2)

9.4.1  Specific features

A subseptate uterus has a negative impact on fertility due to increased rates of early and late miscarriage. This is compounded by higher numbers of cases with malpresentation and higher rates of fetal growth restriction, stillbirth and dystocia. Women with a septate uterus and idiopathic sterility benefit from dissection of the septum.


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9.4.2  Specific diagnostic workup

3D ultrasound and MRI are non-invasive methods which can be used to obtain a differential diagnosis. Hysteroscopy is used to assess the size of the intracavitary septum. A laparoscopy to obtain an external evaluation of the uterus and differentiate it from bicornuate uterus is recommended.


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9.4.3  Therapy

As hysteroscopy for surgical correction is now a simple procedure, a preventive incision of the septum should be considered in women wanting to have children. The dissection should be carried out before starting assisted reproductive technology procedures and in cases with recurrent miscarriage. The septum is incised using hysteroscopic scissors or the needle electrode of a resectoscope. The incision should be extended until the shape of the uterine cavity appears normal. Whether this is carried out under simultaneous laparoscopic monitoring depends on the surgeonʼs experience. Dissection is recommended in cases with a low proliferative endometrium.


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9.4.4  Specific follow-up care

Special follow-up care after surgical correction is not necessary. Reliable contraception for the duration of the healing period of three months is advised.


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9.5  Septate uterus

(VCUAM U1c; ESHRE/ESGE Class U2)

9.5.1  Specific features

A septate uterus has a negative impact on fertility due to the increased rates of early and late miscarriage. In addition, higher numbers of cases with malpresentation, higher rates of fetal growth restriction, stillbirth and dystocia are observed in these patients. There are no confirmed data but some indications that a septate uterus may cause sterility. As noted above for subseptate uterus, the data is limited.


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9.5.2  Specific diagnostic workup

3D ultrasound and MRI are non-invasive methods used to obtain a differential diagnosis which differentiates between septate and bicornuate uterus. Direct visualization is possible with a hysteroscopy. A laparoscopy to obtain an external assessment of the uterus and differentiate this malformation from bicornuate uterus is strongly recommended.


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9.5.3  Therapy

Compared to a subseptate uterus (9.4.3), the septum in a septate uterus usually extends from the fundus down to the cervix. The cervical part of the septum should not be dissected as cervical insufficiency in a subsequent pregnancy is possible. It requires particular skill on the part of the surgeon to find the correct level of dissection when the contralateral cavity cannot be visualized. To avoid complications, carrying out this procedure under laparoscopic control is strongly recommended. The procedure should be carried out in a low proliferative endometrium. If necessary, prior hormone suppressive treatment using a GnRH agonist or ovulation inhibitors should be considered at the time of the surgical procedure. Abdominal metroplasty has been entirely replaced by surgical hysteroscopy and the technique is therefore obsolete.


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9.5.4  Specific follow-up care

Special follow-up care after surgical correction is not necessary. Reliable contraception for the duration of the healing period of three months is advised. The fetus may be delivered vaginally. The medical center where the patient gives birth must be informed about the surgical intervention.

Consensus-based Recommendation 9.E22

Expert consensus

Level of consensus +++

Prophylactic surgery should not be carried out in patients with arcuate uterus.

Surgical correction of arcuate uterus should be carried out in patients with recurrent miscarriage.

The decision to carry out prophylactic surgery must be discussed on a case-by-case basis, and depends on the patientʼs age and how much she wishes to have children. The procedure is not recommended for patients with septate uterus because of the relatively common complications of pregnancy.

Hysteroscopic surgery should be carried out to treat subseptate and septate uterus in patients with sterility and patients with recurrent miscarriage.

Hysteroscopic dissection of the septum should be carried out when the endometrium is flat. The simplest way of achieving this is if the procedure is carried out after menstruation. Prior treatment with drugs is not absolutely necessay but using drugs is acceptable to ensure optimal timing of the surgical procedure.

Consensus-based Statement 9.S24

Expert consensus

Level of consensus +++

The definition of arcuate uterus is imprecise and is generally based on the examinerʼs subjective assessment.

The significance of arcuate uterus on patientsʼ reproductive capacity is not clear.

The currently available evidence on the impact of surgical treatment of subseptate and septate uterus on pregnancy rates is insufficient.

Consensus-based Statement 9.S25

Expert consensus

Level of consensus +++

Placement of an intrauterine foreign body after dissection of the septum does not offer any proven benefits. It is not clear whether treatment with hormonal drugs after surgery to improve wound healing is useful and/or necessary.

Transcervical dissection of the septum is not a contraindication for vaginal delivery.


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9.6  Bicornuate uterus

(VCUAM U2; ESHRE/ESGE Class U 3)

9.6.1  Specific features

Formation of a bicornuate unicollis or bicollis uterus with or without vaginal duplication is the result of impairment in the fusion of the two Mullerian ducts. Bicornuate unicollis uterus is the most common anomaly.


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9.6.2  Specific diagnostic workup

The same diagnostic methods are used to diagnose subseptate and septate uterus. The use of 3D ultrasound and MRI are non-invasive methods to obtain a differential diagnosis which differentiates between septate and bicornuate uterus. A laparoscopy for external assessment of the uterus is strongly recommended.


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9.6.3  Therapy

Consensus-based Statement 9.S26

Expert consensus

Level of consensus +++

Abdominal metroplasty is associated with a better birth rate and lower miscarriage and preterm birth rates in patients with bicornuate uterus and a history of recurrent miscarriage or preterm birth. The decision whether surgery is indicated should be made after carefully weighing up the available still inconclusive data on benefits and risks.

If hematometra is present and symptomatic in a patient with bicornuate uterus and horns equal in shape and volume on each side, metroplasty should be carried out even if the patient has an uneventful obstetric history.

Delivery in patients who have had abdominal metroplasty must be by primary cesarean section.


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9.7  Unicornuate uterus

(VCUAM U4a; ESHRE/ESGE Class U 4)

9.7.1  Specific features

Unicornuate uterus may be associated with impaired fertility. Treatment depends in the first instance on the specific features of the rudimentary horn. If a communicating or noncommunicating rudimentary horn with endometrial tissue is present, it must be resected. Pregnancy in a rudimentary horn often has dramatic consequences, with uterine rupture occurring in the 2nd trimester of pregnancy; this is a potentially life-threatening situation for the patient.

Consensus-based Recommendation 7.E23

Expert consensus

Level of consensus +++

Pregnancies occurring in a rudimentary horn must be resected together with the horn.

Consensus-based Statement 9.S27

Expert consensus

Level of consensus +++

The miscarriage and preterm birth rates are higher in cases with unicornuate uterus.

Treatment (resection of the rudimentary horn) is only indicated if the communicating or noncommunicating horns contain endometrial tissue to prevent dysmenorrhea, hematometra and endometriosis and avoid problems occurring in the event of a pregnancy.


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10  Malformations of the uterine adnexa

(ESHRE/ESGE free description; VCUAM A1 – 3)

Consensus-based Statement 10.S28

Expert consensus

Level of consensus +++

  1. Congenital malformations of the adnexa are rare.

  2. Unilateral adnexal malformations often do not require treatment.

  3. Hormone substitution must be considered in cases with ovarian insufficiency due to ovarian malformation, and the decision whether hormone substitution is indicated must be taken on an individual basis.

  4. The standard method used to treat sterility is assisted reproduction technology.

  5. Attempts at surgical reconstruction are only indicated in individual cases.

Consensus-based Recommendation 10.E24

Expert consensus

Level of consensus +++

If there is a suspicion of congenital malformation of the adnexa, the patient should be referred to a center which has the necessary experience in this area for a further diagnostic workup and/or therapy.


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11  Complex urogenital malformations

This chapter deals with female genital malformations in infants. The chapter covers malformations of the urogenital sinus, cloacal malformation and bladder exstrophy-epispadias complex, from their epidemiology to their treatment and follow-up care. For more details on Chapter 11, please refer to the long German-language version available on the homepage of the AWMF.


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12  Congenital vascular malformations

Consensus-based Statement 12.S57

Expert consensus

Level of consensus +++

  1. Congenital vascular anomalies of the female genital tract are very rare. There are very few reports in the literature, most of them in the form of case reports.

  2. The frequency of uterine vascular malformations in premenopausal bleeding disorders appears to be 3 – 4%. However, the available data are insufficient.

Consensus-based Recommendation 12.E54

Expert consensus

Level of consensus +++

The recommended therapeutic approach consists of watchful waiting. Catheter embolization may be discussed in cases with large malformations.

Alternatively: Beta-blockers should be used for the conservative treatment of hemangiomas in children.


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13  Associated malformations

Because the developmental processes of the paramesonephric (Mullerian) ducts, mesonephric (Wolffian) ducts and the urogenital sinus are interconnected, malformations of the Mullerian ducts lead to associated malformations [1], [2].

The mechanisms of female urogenital development are based on a complex signal transduction system. Wnt and Hox genes along with BMP (bone morphogenetic protein) and WT-1 (Wilmsʼ tumor) suppressor genes play a key role [3], [4], [5]. The mesonephric ducts and their interaction with the urogenital sinus over time affect the correct development of the paramesonephric ducts and their anatomical relationship to the urinary tract. Developmental disorders can lead to a large number of associated malformations, for example, of the kidneys, urinary tract, bladder and skeletal system as well as anorectal malformations.

Consensus-based Statement 13.S58

Expert consensus

Level of consensus +++

Associated malformations (primarily of the renal system, skeletal system, adnexa, inguinal hernias) are found in around 30% of cases with female genital malformations.

Consensus-based Recommendation 13.E55

Expert consensus

Level of consensus +++

Renal ultrasound must also be carried out when investigating for potential urogenital malformations.

Decisions about additional investigations should depend on the extent of findings, the clinical presentation, and the patientʼs planned approach.


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14  Obstetric management

In patients with genital anomalies, the question arises whether vaginal delivery is feasible. In many cases, spontaneous delivery is possible. The general rule is that the obstetrician must decide on the delivery mode together with the pregnant patient. The specific individual circumstances of the malformation and the extent of the malformation must be taken into account, and the obstetric management must be adapted accordingly. Below are statements and recommendations on the obstetric management of various malformations [4], [6], [7].

14.1  Cloaca

Consensus-based Statement 14.S59

Expert consensus

Level of consensus +++

Cloacal malformation and its subsequent surgical correction do not constitute a contraindication for pregnancy per se. But on principle, the pregnancy must be classed as a high-risk pregnancy. Delivery by cesarean section is recommended for these patients, particularly patients who have had reconstructive vaginal surgery.

Consensus-based Recommendation 14.E56

Expert consensus

Level of consensus +++

In principle, pregnancy is possible, but all pregnancies should be classed as high-risk pregnancies and patients should be delivered by cesarean section.


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14.2  Bladder exstrophy

Consensus-based Statement 14.S60

Expert consensus

Level of consensus +++

Patients who had primary reconstruction for bladder exstrophy and patients with primary or secondary urinary diversion may become pregnant. The malformation and subsequent surgical correction do not constitute a contraindication for pregnancy per se. But the pregnancy must, on principle, be classed as a high-risk pregnancy.

Consensus-based Recommendation 14.E57

Expert consensus

Level of consensus +++

In principle, pregnancy is possible, but all pregnancies should be classed as high-risk pregnancies and patients should be delivered by cesarean section.


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14.3  Congenital anomalies of the vulva

Consensus-based Statement 14.S61

Expert consensus

Level of consensus +++

Malformations and synechiae of the lesser or greater labia rarely require surgical intervention. Surgical intervention is more often required to treat androgenital syndrome (AGS). Venous malformations of the vulva must be differentiated from vulvar varicosities during pregnancy. Obstetric management is usually not affected by congenital anomalies of the lesser or greater labia.

Consensus-based Recommendation 14.E58

Expert consensus

Level of consensus +++

If surgical correction of the external genitalia is carried out in a case with AGS, this rarely has an impact on the choice of delivery mode. Individualized birth planning is only required in cases with extensive vulvar vascular changes.


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14.4  Vagina

Consensus-based Statement 14.S62

Expert consensus

Level of consensus +++

Transverse and longitudinal vaginal septa are usually diagnosed prior to conception. It is important to be aware of the possibility of coincidental anomalies, particularly uterine anomalies.

Consensus-based Recommendation 14.E59

Expert consensus

Level of consensus +++

In specific cases and in cases with a large uterine septum, the septum should be resected. A vaginal birth is principally possible. The decision may only be taken on a case-by-case basis.


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14.5  Congenital anomalies of the uterus

Consensus-based Statement 14.S63

Expert consensus

Level of consensus +++

Obstetric complications are most common in patients with septate uterus and lowest in patients with arcuate uterus.

Postpartum bleeding due to retained placenta may occur.

Pregnancy-induced hypertension is common in pregnant patients with concomitant renal malformations or unilateral renal agenesis.

Miscarriages occur most commonly in the first and second trimester of pregnancy.

The risk of uterine rupture during pregnancy in cases with an obstructed or rudimentary uterine horn is around 90%.

Consensus-based Recommendation 14.E60

Expert consensus

Level of consensus +++

A vaginal birth may be considered after transcervical dissection of a uterine septum.

A rudimentary uterine horn should be resected before attempting pregnancy.

The decision on the obstetric management of the pregnancy may only be taken on a case-by-case basis and after carefully weighing up all the options.


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15  Psychosomatic care

15.1  Quality of life, psychological comorbidities, stressful issues

Consensus-based Statement 15.S64

Expert consensus

Level of consensus +++

Women with genital malformations often appear to be under psychological stress and in some cases have been shown to have a significantly reduced quality of life. Nevertheless, compared to the general population, they do not appear to be more likely to suffer higher rates of mental illness. Reliable statements on the psychological stress of women with genital malformations are difficult to make because the data is still insufficient.

Consensus-based Recommendation 15.E61

Expert consensus

Level of consensus +++

Key stressful issues around femininity, sexuality and a (possibly unattainable) wish to become pregnant should be addressed by the primary healthcare practitioner (who is based locally and provides care to the affected patient prior to treatment and post treatment) together with the affected patient in an age-appropriate manner. Respecting the patientʼs privacy and confidentiality are imperative, also when caring for under-age patients. When the patient is initially diagnosed, the main focus is on the medical information, the emotional experience, dealing with the malformation, and communicating the malformation to family members and friends.

Suitable offers of care and support should be provided where required.


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15.2  Psychosomatic considerations during diagnosis and treatment

Consensus-based Statement 15.S65

Expert consensus

Level of consensus +++

Patients are often diagnosed at a sensitive stage in puberty which is characterized by insecurity about their self-image and developing their own identity, as well as physical, social, and cognitive changes. For both the affected patient and those caring for her, the treating physicians are the first role models on how to communicate and deal with the malformation.

Consensus-based Recommendation 15.E62

Expert consensus

Level of consensus +++

A cautious approach must be taken during physical diagnostic examinations and when communicating the diagnosis. It is essential to be particularly careful when choosing words to refer to and describe the malformation to counteract the affected patientʼs possible insecurity about her self-image. At the same time, the assumed stress the diagnosis causes for the patient must be addressed and acted on, where necessary.

It is important to ensure that, in addition to providing detailed, age-appropriate medical information in laymanʼs terms about the diagnosed malformation, the patient is likewise given information on how much she resembles other girls/women.

Depending on the patientʼs age, the patientʼs parent(s)/guardian/confidant or partner must be offered the option of being present during doctor-patient discussions to provide emotional and social support, if the patient agrees to this. Topics and questions raised by them must also be addressed.


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15.3  Psychosomatic diagnosis

Consensus-based Recommendation 15.E63

Expert consensus

Level of consensus +++

In cases with persistent mental stress or who have prior risk factors for developing a mental illness (psychosocial stresses, previous psychosomatic/psychiatric illness) or an ongoing psychological comorbidity or at the patientʼs request, the patient must undergo an extensive psychosomatic examination and receive psychosomatic-psychotherapeutic treatment, if necessary. Routine psychosomatic examination or treatment of all patients does not appear to be necessary.


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15.4  Special approach/situation: children and adolescents

Age-appropriate and repeated discussions of the diagnosis with children and adolescents are important, and the approach which is taken will differ depending on the timepoint when the diagnosis is made and the impact of the malformation.


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15.5  Malformation of the external genitalia

Because of its external visibility, early diagnosis of this type of malformation is possible, usually in early childhood. In this case, continuous age-appropriate support is required.


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15.6  Genital malformations affecting puberty and/or sexuality

These are usually only diagnosed at a late stage (in puberty). When the diagnosis is dicussed, the meeting should be attended by someone the patient trusts. The patient may often wish to include her partner and the inclusion of the partner is often experienced as positive.

Consensus-based Statement 15.S66

Expert consensus

Level of consensus +++

A diagnosis of genital malformation may particularly unsettle and stress children and adolescents. The topic affects the personal and private space of affected patients and may be associated with feelings of shame.

Consensus-based Recommendation 15.E64

Expert consensus

Level of consensus +++

Even when the patient is underage, the presence of the parent(s)/guardian(s) must be addressed and the affected patient must be offered the opportunity for private discussion.


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15.7  Special approach/situation: surgical treatment to create a vagina

Emotional/sexual maturity are important preconditions for the surgical creation of a vagina. The suitable age for this appears to be 16 – 18 years.

Consensus-based Statement 15.S67

Expert consensus

Level of consensus +++

Emotional/sexual maturity are important preconditions for compliance by the affected patient following surgery for vaginal aplasia.

Consensus-based Recommendation 15.E65

Expert consensus

Level of consensus +++

Surgery to create a vagina must be planned together with the affected patient. It appears that neither early surgery (before reaching emotional/sexual maturity) nor late surgery are good.

The need to use a dilator, which is usually required, must be discussed in detail with the patient before starting treatment and must be practiced after surgery in hospital with the support of trained clinical staff.


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15.8  Psychosomatic interventions

While in retrospect, affected patients talk about having a great need of support after receiving the diagnosis, the obstacles to availing themselves of this support at the time of diagnosis appear to be high. Providing information on available psychosomatic counseling and support services as part of the standard care offered to affected patients and facilitating contacts to other affected (same-age) girls or women appears to be helpful [8], [9].

Consensus-based Statement 15.S68

Expert consensus

Level of consensus +++

Psychosomatic interventions may help affected patients to cope better with the malformation. The barriers stopping people from accessing this support appear to be high.

Consensus-based Recommendation 15.E66

Expert consensus

Level of consensus +++

The threshold for accessing standard psychosomatic counseling and treatment services should be low. Patients should be informed about available counseling services as soon as possible after receiving the diagnosis.

Two targeted evaluated psychotherapeutic interventions for affected women with Mayer-Rokitanski-Küster-Hauser syndrome (MRKHS) have been described, and offers of support for affected patients should be guided by these approaches. Targeted evaluated programs for women with other genital malformations are still lacking.


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15.9  Self-help groups/networks

Consensus-based Statement 15.S69

Expert consensus

Level of consensus +++

There are a number of self-help groups for different types of malformations. Communicating and exchanging experiences with other affected persons is felt to be very helpful and reduces the stress.

Consensus-based Recommendation 15.E67

Expert consensus

Level of consensus +++

Women with genital malformations must be able to contact other affected women early on after receiving the diagnosis. Treatment centers must facilitate contacts between affected wwomen/girls, for example through self-help days or online services (e.g., closed discussion forums).


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16  Tumor risk

Risk of bladder tumors in patients with bladder exstrophy

Consensus-based Statement 16.S70

Expert consensus

Level of consensus +++

The presence of a genital malformation may be associated with a higher tumor risk (bladder exstrophy) or may mask typical symptoms (endometrial carcinoma). There has also been a report of a tumor developing in a neovagina.

Consensus-based Recommendation 16.E68

Expert consensus

Level of consensus +++

It is important to consider the possibility of coincidental uterovaginal malformation and endometrial carcinoma.

After the neovagina has been created, the patient should attend regular screening appointments in the same way as women without malformations do.

An annual follow-up examination starting 10 years after surgery and which includes endoscopy of the bladder and an ultrasound examination must be recommended to asymptomatic patients with genital malformation and bladder augmentation. A prompt diagnostic workup must be carried out if they present with symptoms such as macrohematuria or increasing hydronephrosis.


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Tumor risk associated with disorders of sex development (DSD)

Consensus-based Statement 16.S71

Expert consensus

Level of consensus +++

Current studies confirm a higher risk of TSPY-positive variants in persons with DSD.

See also the 174-001 German-language guideline on variants of sex develoment [German title: Varianten der Geschlechtsentwicklung].

Consensus-based Recommendation 16.E69

Expert consensus

Level of consensus +++

As many tumors only develop in adolescence or adulthood, the gonads should no longer be simply resected in childhood without further thought. And orchidopexy or other surgical procedure in childhoold could offer the option of carrying out a biopsy at the same time. Appropriate processing of the biopsy sample as described in the long version is important. Even in adolescence or adulthood, the decision to carry out a gonadectomy should be made on a case-by-case basis which takes account of the above-listed risk factors. Annual screening with palpation and ultrasound should be carried out if gonads with a higher risk of developing tumors are left unresected.


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  • References/Literatur

  • 1 Hall-Craggs MA, Kirkham A, Creighton SM. Renal and urological abnormalities occurring with Mullerian anomalies. J Pediatr Urol 2013; 9: 27-32
  • 2 Wu CQ, Childress KJ, Traore EJ. et al. A Review of Mullerian Anomalies and Their Urologic Associations. Urology 2020;
  • 3 Ledig S, Wieacker P. Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome. Med Genet 2018; 30: 3-11
  • 4 Oppelt P, von Have M, Paulsen M. et al. Female genital malformations and their associated abnormalities. Fertil Steril 2007; 87: 335-342
  • 5 Carlson BM. Human Embryology and developmental Biology. 6th ed. St. Louis, MO: Elsevier; 2019
  • 6 Edmonds DK. Congenital malformations of the genital tract and their management. Best Pract Res Clin Obstet Gynaecol 2003; 17: 19-40
  • 7 Acién P, Acién M. The presentation and management of complex female genital malformations. Hum Reprod Update 2016; 22: 48-69
  • 8 Weijenborg PT, ter Kuile MM. The effect of a group programme on women with the Mayer-Rokitansky-Küster-Hauser syndrome. BJOG 2000; 107: 365-368
  • 9 Heller-Boersma JG, Schmidt UH, Edmonds DK. A randomized controlled trial of a cognitive-behavioural group intervention versus waiting-list control for women with uterovaginal agenesis (Mayer-Rokitansky-Küster-Hauser syndrome: MRKH). Hum Reprod 2007; 22: 2296-2301

Correspondence/Korrespondenzadresse

Prof. Peter Oppelt
Johannes Kepler University Linz
Gynecology, Obstetrics and gyn. Endocrinology
Altenberger Straße 69
4040 Linz
Austria   

Publikationsverlauf

Eingereicht: 28. März 2021
Eingereicht: 02. Dezember 2020

Angenommen: 28. März 2021

Artikel online veröffentlicht:
08. Dezember 2021

© 2021. Thieme. All rights reserved.

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Rüdigerstraße 14, 70469 Stuttgart, Germany

  • References/Literatur

  • 1 Hall-Craggs MA, Kirkham A, Creighton SM. Renal and urological abnormalities occurring with Mullerian anomalies. J Pediatr Urol 2013; 9: 27-32
  • 2 Wu CQ, Childress KJ, Traore EJ. et al. A Review of Mullerian Anomalies and Their Urologic Associations. Urology 2020;
  • 3 Ledig S, Wieacker P. Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome. Med Genet 2018; 30: 3-11
  • 4 Oppelt P, von Have M, Paulsen M. et al. Female genital malformations and their associated abnormalities. Fertil Steril 2007; 87: 335-342
  • 5 Carlson BM. Human Embryology and developmental Biology. 6th ed. St. Louis, MO: Elsevier; 2019
  • 6 Edmonds DK. Congenital malformations of the genital tract and their management. Best Pract Res Clin Obstet Gynaecol 2003; 17: 19-40
  • 7 Acién P, Acién M. The presentation and management of complex female genital malformations. Hum Reprod Update 2016; 22: 48-69
  • 8 Weijenborg PT, ter Kuile MM. The effect of a group programme on women with the Mayer-Rokitansky-Küster-Hauser syndrome. BJOG 2000; 107: 365-368
  • 9 Heller-Boersma JG, Schmidt UH, Edmonds DK. A randomized controlled trial of a cognitive-behavioural group intervention versus waiting-list control for women with uterovaginal agenesis (Mayer-Rokitansky-Küster-Hauser syndrome: MRKH). Hum Reprod 2007; 22: 2296-2301

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