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)

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.

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

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

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).

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

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.

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% of participants agree
++	Consensus	> 75 – 95% of participants agree
+	Majority agreement	> 50 – 75% of participants agree
–	No consensus	< 51% of 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 but without the use of symbols; it is only expressed semantically (“must”/“must not” or “should”/“should not” or “may”/“may not”).

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

9.6.3  Therapy

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.

10  Malformations of the uterine adnexa

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

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.

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.

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 .

15  Psychosomatic care

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.

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.

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.

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.

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 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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).

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.

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.

Konsensbasierte Empfehlung 9.E22.

Expertenkonsens

Konsensusstärke +++

Die prophylaktische Operation eines Uterus arcuatus sollte nicht erfolgen.

Bei Patientinnen mit habituellen Aborten sollte die operative Korrektur eines Uterus arcuatus erfolgen.

Die Entscheidung zu einer prophylaktischen Operation soll individuell diskutiert werden, abhängig vom Alter und der Dringlichkeit des Kinderwunsches. Bei Uterus septus ist sie aufgrund relativ häufiger Schwangerschaftskomplikationen eher anzuraten.

Bei Sterilitätspatientinnen oder bei Patientinnen mit habituellen Aborten sollte ein Uterus subseptus/Uterus septus hysteroskopisch operiert werden.

Eine hysteroskopische Septumdissektion sollte im Zustand des flachen Endometriums durchgeführt werden. Dies kann am einfachsten erreicht werden mittels postmenstrueller Durchführung des Eingriffs. Eine medikamentöse Vorbehandlung ist nicht grundsätzlich notwendig, kann aber zum Timing des Eingriffs vertretbar durchgeführt werden.

Konsensbasiertes Statement 9.S24.

Expertenkonsens

Konsensusstärke +++

Die Definition des Uterus arcuatus ist unscharf und beruht in der Regel auf einer subjektiven Einschätzung des Untersuchers.

Die Bedeutung des Uterus arcuatus in Bezug auf das Reproduktionsvermögen ist unklar.

Für Eingriffe bei Uterus subseptus und septus liegt in Bezug auf Schwangerschaftsraten keine ausreichende Evidenz vor.

Konsensbasiertes Statement 9.S25.

Expertenkonsens

Konsensusstärke +++

Die Einlage eines intrauterinen Fremdkörpers nach Septumdissektion bietet keine erwiesenen Vorteile. Es ist unklar, ob eine hormonelle medikamentöse Nachbehandlung zur Förderung der Wundheilung sinnvoll und/oder notwendig ist.

Eine transzervikale Septumdissektion stellt keine Kontraindikation für eine vaginale Geburt dar.

Konsensbasiertes Statement 9.S26.

Expertenkonsens

Konsensusstärke +++

Bei Patientinnen mit habituellen Aborten bzw. Frühgeburten ist bei einem Uterus bicornis eine abdominale Metroplastik mit einer Verbesserung der Geburtenrate und Reduktion der Abort- und Frühgeburtenrate assoziiert. Die Operationsindikation sollte unter sorgfältiger Abwägung der nicht eindeutigen Datenlage zum Nutzen und der Risiken gestellt werden.

Beim Vorliegen einer Hämatometra bei einem gleichwertigen Uterushorn beim Uterus bicornis mit Beschwerden sollte eine Metroplastik auch bei unauffälliger geburtshilflicher Anamnese durchgeführt werden.

Nach einer abdominalen Metroplastik soll eine primäre Sectio caesarea erfolgen.

Konsensbasierte Empfehlung 7.E23.

Expertenkonsens

Konsensusstärke +++

Schwangerschaften im rudimentären Horn müssen unter Mitnahme des Horns entfernt werden.

Konsensbasiertes Statement 9.S27.

Expertenkonsens

Konsensusstärke +++

Die Abort- und Fehlgeburtenrate sind beim Uterus unicornis erhöht.

Eine Indikation zur Therapie (Resektion des rudimentären Horns) besteht nur bei endometriumenthaltenden, kommunizierenden oder nicht kommunizierenden Hörnern zur Vermeidung von Dysmenorrhöen, Hämatometra und Endometriose sowie zur Vermeidung von Problemen im Falle einer Schwangerschaft.

Konsensbasiertes Statement 10.S28.

Expertenkonsens

Konsensusstärke +++

1. Angeborene Fehlbildungen im Bereich der Adnexe sind selten.

2. Einseitige Fehlbildungen bedürfen häufig keiner Behandlung.

3. Bei einer ovariellen Insuffizienz aufgrund Ovarfehlbildung soll eine Hormonsubstitution überlegt und individuell indiziert werden.

4. Zur Sterilitätstherapie sind die Methoden der assistierten Reproduktion Standard.

5. Ein Versuch der operativen Rekonstruktion ist nur in Einzelfällen indiziert.

Konsensbasierte Empfehlung 10.E24.

Expertenkonsens

Konsensusstärke +++

Bei Verdacht auf eine angeborene Fehlbildung im Bereich der Adnexe sollte eine Vorstellung zur weiteren Diagnostik und/oder Therapie in einer hierfür entsprechend erfahrenen Einrichtung erfolgen.

Konsensbasiertes Statement 12.S57.

Expertenkonsens

Konsensusstärke +++

1. Angeborene Gefäßanomalien im weiblichen Genitaltrakt sind sehr selten. Dazu gibt es nur sehr wenige Literaturberichte, meist in Form von Case Reports.

2. Uterine vaskuläre Malformationen scheinen bei präklimakterischen Blutungsstörungen in einer Frequenz von 3 – 4% aufzutreten. Die Datenlage ist aber ungenügend.

Konsensbasierte Empfehlung 12.E54.

Expertenkonsens

Konsensusstärke +++

Therapeutisch ist das abwartende Verhalten zu empfehlen. Bei größeren Malformationen kann die Katheterembolisation diskutiert werden.

Alternativ: Konservative Therapie bei Hämagiomen bei Kindern sollte mittels Betablocker erfolgen.

Konsensbasiertes Statement 13.S58.

Expertenkonsens

Konsensusstärke +++

Bei ca. 30% der weiblichen genitalen Fehlbildungen ist mit assoziierten Malformationen (vor allem renales System, Skelett, Adnexe, Leistenhernien) zu rechnen.

Konsensbasierte Empfehlung 13.E55.

Expertenkonsens

Konsensusstärke +++

Im Rahmen der Fehlbildungsabklärung soll eine Sonografie der Nieren durchgeführt werden.

Weitere Abklärungen sollten in Abhängigkeit von der Ausprägung der Befunde, dem Beschwerdebild und geplanten Vorgehen bei der Patientin entschieden werden.

Konsensbasiertes Statement 14.S59.

Expertenkonsens

Konsensusstärke +++

Die Kloakenfehlbildung und die daraus resultierenden Operationen stellen per se keine Kontraindikation für eine Schwangerschaft dar. Die Schwangerschaft soll prinzipiell als Risikoschwangerschaft gewertet werden. Eine Entbindung per Kaiserschnitt wird empfohlen für diese Patientinnen, insbesondere nach vaginalen rekonstruktiven Eingriffen.

Konsensbasierte Empfehlung 14.E56.

Expertenkonsens

Konsensusstärke +++

Eine prinzipiell mögliche Schwangerschaft sollte als Risikoschwangerschaft gewertet werden und die Entbindung per Kaiserschnitt erfolgen.

Konsensbasiertes Statement 14.S60.

Expertenkonsens

Konsensusstärke +++

Schwangerschaften sind sowohl bei Patientinnen mit primärer Rekonstruktion der Blasenekstrophie sowie nach primärer oder sekundärer Harnableitung möglich. Die Fehlbildung und die daraus resultierenden Operationen stellen per se keine Kontraindikation für eine Schwangerschaft dar. Die Schwangerschaft soll prinzipiell als Risikoschwangerschaft gewertet werden.

Konsensbasierte Empfehlung 14.E57.

Expertenkonsens

Konsensusstärke +++

Eine prinzipiell mögliche Schwangerschaft sollte als Risikoschwangerschaft gewertet werden und die Entbindung per Kaiserschnitt erfolgen.

Konsensbasiertes Statement 14.S61.

Expertenkonsens

Konsensusstärke +++

Fehlbildungen und Synechien der Labia minora bzw. majora bedürfen selten einer chirurgischen Intervention. Häufiger muss beim AGS eine chirurgische Intervention erfolgen. Venöse Malformationen der Vulva müssen von einer Varikosis in graviditatem unterschieden werden. Das geburtshilfliche Management wird in der Regel nicht durch kongenitale Veränderungen der Labia minora bzw. majora bestimmt.

Konsensbasierte Empfehlung 14.E58.

Expertenkonsens

Konsensusstärke +++

Wurde beim AGS eine operative Korrektur des äußeren Genitales durchgeführt, hat sie selten einen Einfluss auf die Wahl des Geburtsmodus. Nur bei sehr ausgeprägten Gefäßveränderungen der Vulva ist eine individuelle Geburtsplanung vonnöten.

Konsensbasiertes Statement 14.S62.

Expertenkonsens

Konsensusstärke +++

Transverse und longitudinale Vaginalsepten werden meist vor der Konzeption diagnostiziert. Zu beachten ist die Koinzidenz insbesondere der uterinen Anomalien.

Konsensbasierte Empfehlung 14.E59.

Expertenkonsens

Konsensusstärke +++

Bei bestimmten und bei ausgeprägten Formen sollte eine Entfernung der Septen erfolgen. Grundsätzlich ist eine vaginale Geburt möglich. Die Entscheidung kann nur individuell getroffen werden.

Konsensbasiertes Statement 14.S63.

Expertenkonsens

Konsensusstärke +++

Geburtshilfliche Komplikationen sind häufiger beim Uterus septus und am geringsten beim Uterus arcuatus.

Postpartale Blutungen durch Plazentaretention können auftreten.

Bei begleitenden Nierenfehlbildungen oder einseitiger Nierenagenesie ist ein schwangerschaftsinduzierter Hypertonus häufiger.

Aborte treten gehäuft im 1. und 2. Trimenon auf.

Während einer Schwangerschaft bei einem Uterus mit obstruiertem oder rudimentärem Horn beträgt die Gefahr einer Uterusruptur fast 90%.

Konsensbasierte Empfehlung 14.E60.

Expertenkonsens

Konsensusstärke +++

Nach transzervikaler Dissektion eines uterinen Septums kann eine vaginale Geburt angestrebt werden.

Ein rudimentäres Horn sollte vor einer Schwangerschaft entfernt werden.

Die Entscheidung über das geburtshilfliche Vorgehen kann nur individuell und nach sorgfältiger Abwägung aller Optionen getroffen werden.

Konsensbasiertes Statement 15.S64.

Expertenkonsens

Konsensusstärke +++

Frauen mit genitaler Fehlbildung scheinen häufig psychisch belastet und weisen eine u. U. deutliche Einschränkung ihrer Lebensqualität auf. Dennoch scheinen sie im Vergleich mit der Allgemeinbevölkerung nicht häufiger an psychischen Erkrankungen zu leiden. Belastbare Aussagen zur psychischen Belastung von Frauen mit genitalen Fehlbildungen sind aufgrund bislang nicht ausreichender Studienlage schwierig.

Konsensbasierte Empfehlung 15.E61.

Expertenkonsens

Konsensusstärke +++

Die zentralen belastenden Themen Weiblichkeit, Sexualität und (ggf. nicht erfüllbarer) Schwangerschaftswunsch sollten in der Begleitung der Mädchen bzw. Frauen durch die Primärbehandler (welche die Betroffenen wohnortnah in Vor- und Nachbehandlung begleiten) altersentsprechend angesprochen werden. Der Respekt vor der Intimität und die Verschwiegenheit sind auch bei Minderjährigen unbedingt zu gewährleisten. Zum Zeitpunkt der Diagnosestellung stehen medizinische Informationen sowie emotionales Erleben, Umgang mit der Fehlbildung und Kommunikation der Fehlbildung innerhalb der Familie sowie im Freundeskreis im Vordergrund.

Bei Bedarf soll ein passendes Hilfsangebot vermittelt werden.

Konsensbasiertes Statement 15.S65.

Expertenkonsens

Konsensusstärke +++

Die Diagnose erfolgt häufig in der sensiblen Phase der Pubertät, welche durch Unsicherheit im Selbstbild, Entwicklung der eigenen Identität sowie physische, soziale und kognitive Veränderungen gekennzeichnet ist. Die behandelnden Ärzte sind sowohl für die Betroffene als auch ihre Begleiter ein erstes Rollenvorbild in der Kommunikation von und im Umgang mit der Fehlbildung.

Konsensbasierte Empfehlung 15.E62.

Expertenkonsens

Konsensusstärke +++

In der somatischen Diagnostik und bei Diagnosemitteilung soll behutsam vorgegangen werden. Es soll besonders auf die Wortwahl in der Bezeichnung und Beschreibung der Fehlbildung geachtet werden, um einer möglichen Verunsicherung der Betroffenen in ihrem Selbstbild entgegenzuwirken. Gleichzeitig soll eine anzunehmende Belastung der Betroffenen angesprochen und ggf. aufgegriffen werden.

Es soll darauf geachtet werden, dass neben ausführlichen, altersgemäßen, laienverständlichen, medizinischen Informationen zur diagnostizierten Fehlbildung gleichwertig dargestellt wird, worin die Betroffene allen anderen Mädchen/Frauen gleicht.

Zur emotionalen und sozialen Unterstützung der Betroffenen soll je nach Alter den Eltern/Vertrauenspersonen sowie eventuellen Partnern/Partnerinnen bei Zustimmung der Betroffenen angeboten werden, bei Arztgesprächen anwesend zu sein. Auf ihre Themen und Fragen soll ebenfalls eingegangen werden.

Konsensbasierte Empfehlung 15.E63.

Expertenkonsens

Konsensusstärke +++

Patientinnen sollen bei anhaltender psychischer Belastung, bei vorhandenen Risikofaktoren für die Entwicklung einer psychischen Erkrankung (psychosoziale Belastungen, frühere psychosomatische/psychiatrische Erkrankung), bei aktueller psychischer Komorbidität oder auf Wunsch der Betroffenen eine eingehende psychosomatische Diagnostik und ggf. psychosomatisch-psychotherapeutische Behandlung erhalten. Eine routinemäßige psychosomatische Untersuchung bzw. Behandlung aller Patientinnen scheint nicht notwendig.

Konsensbasiertes Statement 15.S66.

Expertenkonsens

Konsensusstärke +++

Die Diagnose einer genitalen Fehlbildung kann insbesondere Kinder und Jugendliche verunsichern und belasten. Die Themen berühren die Intimsphäre der Betroffenen, was schambesetzt sein kann.

Konsensbasierte Empfehlung 15.E64.

Expertenkonsens

Konsensusstärke +++

Es soll auch bei minderjährigen Betroffenen die Anwesenheit der Eltern/Erziehungsberechtigten thematisiert und den Betroffenen ein vertrauliches Gespräch angeboten werden.

Konsensbasiertes Statement 15.S67.

Expertenkonsens

Konsensusstärke +++

Die emotionale bzw. sexuelle Reife ist für die Compliance der Betroffenen nach Operation einer Vaginalaplasie eine wichtige Voraussetzung.

Konsensbasierte Empfehlung 15.E65.

Expertenkonsens

Konsensusstärke +++

Die operative Behandlung zur Anlage einer Vagina soll mit den Betroffenen zusammen geplant werden. Dabei scheint weder eine frühe (vor emotionaler/sexueller Reife) noch späte Behandlung günstig.

Ein i. d. R. notwendiges Tragen eines Dilatators soll mit den Patientinnen vor Behandlungsbeginn ausführlich vorbesprochen und nach der Operation in der Klinik mit geschultem Fachpersonal eingeübt werden.

Konsensbasiertes Statement 15.S68.

Expertenkonsens

Konsensusstärke +++

Psychosomatische Interventionen können Betroffene unterstützen, mit der Fehlbildung besser zurechtzukommen. Die Schwelle, diese in Anspruch zu nehmen, scheint hoch.

Konsensbasierte Empfehlung 15.E66.

Expertenkonsens

Konsensusstärke +++

Für ein regelhaftes psychosomatisches Beratungs- und Behandlungsangebot sollte ein niederschwelliger Zugang gewählt werden. Auf Beratungsangebote sollte baldmöglichst nach Diagnosestellung hingewiesen werden.

Für belastete Frauen mit MRKHS sind 2 evaluierte spezifische psychotherapeutische Interventionen beschrieben, an welchen sich Unterstützungsangebote für belastete Patientinnen orientieren sollten. Für Frauen mit anderen genitalen Fehlbildungen fehlen bislang spezifische evaluierte Programme.

Konsensbasiertes Statement 15.S69.

Expertenkonsens

Konsensusstärke +++

Es existieren Selbsthilfegruppen für verschiedene Fehlbildungen. Der Austausch mit anderen Betroffenen wird als sehr entlastend und hilfreich erlebt.

Konsensbasierte Empfehlung 15.E67.

Expertenkonsens

Konsensusstärke +++

Frauen mit genitalen Fehlbildungen sollen frühzeitig nach Diagnosesicherung mit anderen Betroffenen in Kontakt kommen können. Behandlungszentren sollen Kontakte von Betroffenen über z. B. Selbsthilfetage oder Onlineangebote (z. B. geschlossene Foren) ermöglichen.

Konsensbasiertes Statement 16.S70.

Expertenkonsens

Konsensusstärke +++

Das Vorliegen einer genitalen Fehlbildung kann mit einem erhöhten Tumorrisiko (Blasenextrophie) assoziiert sein oder typische Symptome verschleiern (Endometriumkarzinom). Auch in einer Neovagina wurde die Entstehung eines Tumors beschrieben.

Konsensbasierte Empfehlung 16.E68.

Expertenkonsens

Konsensusstärke +++

An die Möglichkeit einer Koinzidenz von uterovaginaler Fehlbildung und Endometriumkarzinom sollte gedacht werden.

Nach Neovaginaanlage sollte eine Vorsorge wie bei Patientinnen ohne Fehlbildung erfolgen.

Bei asymptomatischen Patientinnen mit genitaler Fehlbildung und Blasenaugmentation soll eine jährliche Nachsorge ab 10 Jahre postoperativ mit Endoskopie der Blase und Sonografie empfohlen werden. Liegen Symptome wie Makrohämaturie oder zunehmende Hydronephrose vor, soll eine zeitnahe diagnostische Abklärung erfolgen.

Konsensbasiertes Statement 16.S71.

Expertenkonsens

Konsensusstärke +++

Aktuelle Untersuchungen bestätigen ein erhöhtes Risiko für TSPY-positive DSD-Varianten.

Siehe auch „174-001 Leitlinie variante Geschlechtsentwicklung“

Konsensbasierte Empfehlung 16.E69.

Expertenkonsens

Konsensusstärke +++

Da sich viele Tumoren aber erst im Jugend- oder Erwachsenenalter entwickeln, sollten die Gonaden nicht mehr unreflektiert im Kindesalter entfernt werden. Im Kindesalter böte sich eine Biopsie im Rahmen einer Orchidopexie oder anderer chirurgischer Maßnahmen an. Wichtig ist dabei eine entsprechende Aufarbeitung der Proben wie in der Langfassung beschrieben, um Fehleinschätzungen zu vermeiden. Auch im Jugend- und Erwachsenenalter sollte jede Entscheidung zur Gonadektomie individuell erfolgen unter Berücksichtigung o. g. Risikofaktoren. Belässt man Gonaden, die ein erhöhtes Risiko für eine Tumorentwicklung haben, sollte ein jährliches Screening erfolgen mittels Palpation und Ultraschall.