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.
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.
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
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.
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.
10 Malformations of the uterine adnexa
(ESHRE/ESGE free description; VCUAM A1 – 3)
Consensus-based Statement 10.S28
Expert consensus
Level of consensus +++
-
Congenital malformations of the adnexa are rare.
-
Unilateral adnexal malformations often do not require treatment.
-
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.
-
The standard method used to treat sterility is assisted reproduction technology.
-
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.
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.
12 Congenital vascular malformations
Consensus-based Statement 12.S57
Expert consensus
Level of consensus +++
-
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.
-
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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).
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.
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.
