Paediatric Urology
Arch. Esp. Urol. 2009; 62 (9): 724-730
FEMINIZING GENITOPLASTY IN ADRENAL CONGENITAL HIPERPLASIA: ONE
OR TWO SURGICAL STEPS?
Jose Manuel Escala, Yair Cadena, Pedro-Jose Lopez, Lorena Angel, Maria G. Retamal, Nelly
Letelier and Ricardo Zubieta.
Department of Paediatric Urology. Hospital Exequiel Gonzalez Cortes. Santiago. Chile.
Summary.- OBJECTIVES: The best time to perform a
genitoplasty in a Congenital Adrenal Hyperplasia (CAH)
girl is an issue that has been discussed extensively. The
purpose of this study is to find criteria that may help in
the decision.
METHODS: Charts of all patients with diagnosis of CAH
with 21 Hydroxylase deficit who underwent genitoplasty
in our institution were reviewed (Jan 1996-Dec 2006).
Demographic data, surgery performed and outcomes
were analyzed.
@
CORRESPONDENCE
Jose Manuel Escala
Yair Cadena Gonzalez
Department of Paediatric Urology
Hospital Exequiel González Cortés
Barros Luco 3344 San Miguel
Santiago. (Chile).
[email protected]
[email protected]
Accepted for publication: April 22th, 2009.
RESULTS: In the 10 year-period, 25 patients fit the inclu
sion criteria; 22 had complete data. All patients were
classified based on Prader’s criteria; Prader 2 (n=3),
Pra der 3 (n=13) and Prader 4 (n=6). Mean age at
first surgery was 13.5 months (range 2-89m). In Prader
2 patients, a reduction clitoroplasty with a “cut back”
vaginoplasty was performed with no complications. All
patients in the Prader 3 group underwent a reduction
clitoroplasty. A vaginoplasty was done in 9/13; 5/9 at
the same surgery session (4 stenotic) and the other 4 in a
2nd stage with good results; vaginoplasty is still pending
for the other 4 girls. In the Prader 4 group, a vaginoplas
ty pull-through was performed in 4/6 using the poste
rior sagital approach; one at the reduction clitoroplasty
stage which ended stenotic and need dilatations, and
the other 3 in a 2nd surgery with a good outcome. The
other 2/6 girls are awaiting a vaginoplasty. 22/22
had acceptable results after a mean follow-up of 63
months (range 12-144).
CONCLUSIONS: Congenital Adrenal Hyperplasia
(CAH) shows di fferent approaches may be used for different degrees of virilization. For less severe cases (Prader <3) a cut-back may be the surgery of choice for vaginoplasty, while in the more complex cases a flap with
pull-through or a posterior sagital procedure could be
useful. Based on this series, we recommend performing
vaginoplasty in a 2nd stage surgery, avoi ding complications and further procedures such as di latations.
Keywords: Congenital Adrenal Hyperplasia
(CAH). Paediatrics. Clitoroplasty. Vaginoplasty.
FEMINIZING GENITOPLASTY IN ADRENAL CONGENITAL HIPERPLASIA: ONE OR TWO SURGICAL STEPS?
Resumen.- OBJETIVO: El mejor momento para realizar una genitoplastia en una niña con Hiperplasia Suprarrenal Congénita (HSRC) es un tema que ha sido
debatido ampliamente. El objetivo de este estudio es encontrar un criterio que pueda ayudar en esta decisión.
MÉTODO: Se revisaron los datos de todos los pacientes
con diagnóstico de HSRC con déficit de 21 Hidroxilasa
que se sometieron a genitoplastia en nuestra institución
(Enero 1996-Diciembre 2006). Se analizaron datos demográficos, cirugía realizada y resultados.
RESULTADOS: En el periodo de 10 años, 25 pacientes
cumplieron los criterios de inclusión; 22 tenían datos
completos. Todos los pacientes fueron clasificados basándose en los criterios de Prader; Prader 2 (n=3), Prader 3 (n=13) y Prader 4 (n=6). El promedio de edad al
momento de la primera cirugía fue 13.5 meses (rango
2-89m). En los pacientes Prader 2, una clitoroplastia de
reducción con una vaginoplastia “cut back” fue realizada sin complicaciones. Todos los pacientes del grupo
Prader 3 se sometieron a una clitoroplastia de reducción. Una vaginoplastia fue hecha en 9/13; 5/9 en la
misma sesión quirúrgica (4 estenóticas) y los otros 4 en
un segundo tiempo, con buenos resultados; en las otras
4 niñas la vaginoplastia está aún pendiente. En el grupo
Prader 4, una vaginoplastia “pull-through” fue realizada
en 4/6 usando un abordaje sagital posterior; uno al
momento de la clitoroplastia de reducción, con resultados estenóticos y necesidad de dilataciones, y los otros
3 en una segunda cirugía con buenos resultados. Las
otras 2/6 niñas están esperando una vaginoplastia.
22/22 tiene resultados aceptables luego de un periodo de seguimiento de 63 meses (rango 12-144m).
CONCLUSIONES: La Hiperplasia Suprarrenal Congénita (HSRC) muestra diferentes grados de virilización,
por lo tanto distintos abordajes pueden ser utilizados.
Para los casos menos severos (Prader <3) un “cut-back”
puede ser la cirugía de elección para una vaginoplastia, mientras en los casos más complejos un colgajo
con “pull-through” o un procedimiento sagital posterior
puede ser útil. Basado en esta serie, nosotros recomendamos realizar una vaginoplastia en un segundo tiempo
quirúrgico, evitando complicaciones y procedimientos
adicionales como las dilataciones.
Palabras clave: Hiperplasia Suprarrenal Congénita (HSRC). Pediátricos. Clitoroplastia. Vaginoplastia.
INTRODUCCIÓN
Congenital adrenal hyperplasia is generated
by a set of disorders in one of the five enzymes required for the synthesis of cortisol in the adrenal cortex
(1). The most usual disorder is the 21-hydroxylase de-
725
ficiency; this is present in over 90% of the cases. The
deficiency generates virilization of different degrees
and is the most frequent cause of genital ambiguity
(1,2) Surgical objectives involve three main steps in
patients with virilization due to congenital adrenal hyperplasia: Reconstruction of the clitoris, of the labia
majora and vaginoplasty in search of adequate aesthetic and functional results. The vesical function must
also be adequately preserved, as well as the capacity
to develop an adequate sexual and reproductive life
as an adult. Based on these premises, several surgery
techniques have been developed, where a knowledge of anatomy, degree of virilization, length of the
urogenital sinus and urethra, as well as other associated anomalies is essential (3,4).
Clitoroplasty is generally recommended in
patients under six months old, but the ideal timing for
a vaginoplasty to be performed is still being debated (1,2,5). When urogenital sinuses (SUG) are very
short, clitoroplasty and vaginoplasty could be done at
the same time (2).
However, when the vagina arrives higher up
into the urogenital sinus, vaginoplasty could be done
later on, thus obtaining better final results. The purpose of this report is to describe our experience in both
early and later reconstruction of urogenital sinuses,
and analyze the results searching for point of views
which would help to reach a better decision about an
adequate surgery timing in different cases.
MATERIALS AND METHODS
This study is a revision of the clinical histories
of the patients with congenital virilizing adrenal hyperplasia due to the deficit of 21-hydroxylase, who
were treated in our institution between 1996 and
2006.
The degree of virilization was recorded in
each case, according to the Prader and the length of
the urogenital sinus was measured by cytoscopy. The
patients were divided in three groups, according to
the degree of virilization and the length of the urogenital sinus. The age of the patients was recorded and
the surgery techniques employed for vaginoplasty
were analyzed. The long-term results, complications
and the need for additional procedures were also recorded.
RESULTS
During this 10-year period there were 25
patients who fitted the criteria to be included in this
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J. M. Escala, Y. Cadena, P. J. López et al.
TABLE I. INITIAL DISTRIBUTION OF THE PATIENTS.
Group
# Patients
Prader
Mean length sinus (cm.)
1
3
2
0.8
2
13
3
1.6
3
6
4
3.5
study, and complete data was available for 22 of
them. The patients were divided in three groups, considering the Prader virilization scale and the length
of the urogenital sinus. Group 1 (3 patients) included
patients with Prader 2 and mean SUG length of 0.8
cm (range: 0.5 to 1 cm). Group 2 (13 patients) with
Prader 3 and mean SUG length of 1.6 cm, (range
1.3 2 cm). Group 3 (6 patients) with Prader 4 and
mean SUG length of 3.5cm, (range 3 - 4 cm) (Table
I).
All the patients had had full endocrinologic
checking, urologic study, renal and urinary tract echography, uretrocystography and were examined under
anesthesia.
Clitoroplasty was done in a first surgical stage in all patients, with resection of the corpus cavernosum and conservation of the vascular-nervous bundle. The mean age for this first procedure was 13.5
months in the three groups (2- 89 months) and no
significant differences appeared among the groups,
regarding results and complications.
In the first group, vaginoplasty was carried
out at the same surgical time as clitoroplasty and in
the three cases it was done using the cut back technique. There were no complications in any of the cases;
all the patients show an acceptable aesthetic appearance, and do not need additional procedures.
In group 2, (5/13) vaginoplasty was done
at the same surgical time as the clitoroplasty. In these
cases, the vaginoplasty was done using a Fortunoff
inverted U flap and partial mobilization of the sinus.
Of these 5 patients, 4 showed vaginal stenosis, which
required dilatations, and in 3 of the 4 cases a new
surgical procedure is pending execution, as the dilatation program failed. A satisfactory long-term result
was achieved in one patient only, with an acceptable aesthetic result and adequate vaginal caliber. In
another four patients of this group, the vaginoplasty
was postponed to a second surgery stage at a mean
age of 108 months (range 84-114 months). The same
inverted U flap technique and partial mobilization of
the sinus was employed. Adequate aesthetic and
functional results were achieved in the four cases (Figure 1). Vaginoplasty is pending for 4/13 patients of
this group.
FIGURE 1. Aesthetic aspect at age 12. Hegar 14
Dilatation.
In group 3, and in one of six patients, the vaginoplasty was done at the same surgery time as the
clitoroplasty, using a posterior sagital block lowering
technique. (2, 3,4). Although this patient showed an
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FEMINIZING GENITOPLASTY IN ADRENAL CONGENITAL HIPERPLASIA: ONE OR TWO SURGICAL STEPS?
TABLE II. RESULTS AFTER 63 MONTHS (MEAN) FOLLOW-UP .
Prader/mean sinus length
Mean age vaginoplasty
Patients
Good results
2 / 0.8 cm
22 months
3
3 (100%)
9 months
5
1 (20%)
108 months
4
4 (100%)
Pending
4
-
26 months
1
0
156 months
3
3 (100%)
Pending
2
-
3 / 1.6 cm
4 / 3.5 cm
adequate recovery, it has been necessary to carry out
vaginal dilatations. In another 3 patients of this group
the vaginoplasty was carried out in a second surgery
time, with the same approach, giving satisfactory results as regards appearance, continence and vaginal
caliber. Vaginoplasty is still pending for two patients
of this group (Table II).
None of the patients developed urinary incontinence and all have a good aesthetic appearance. At present 6 patients are awaiting vaginoplasty in
a second surgery step.
DISCUSSION
Congenital adrenal hyperplasia can cause
virilization of different degrees, therefore different
approaches must be employed to surgically solve
these alterations, depending on their severity (1). Although many surgical techniques have been described to approach the urogenital sinus, with mixed results, the best timing to effect a vaginal reconstruction
is still being debated.
In genital reconstruction, the clitoroplasty has
been classically done at a very young age, so as to
obtain an adequate aesthetic result. On the other
hand, it is argued that reconstruction would be much
easier at that age, due to a greater mobility of the
tissues, permitting a better dissection (2). Another
point in favor of early reconstruction is to alleviate
the anxiety of the parents and help in the building of
a distinct female role for the patient ever since birth
(6). However, some studies inform that there would be
patients with late genus dysphoria, therefore some authors would suggest that these procedures should be
delayed until the patient has a definite sexual identity
(7, 8). In our experience, we prefer clitoroplasty to
take place early, as it provides a distinct identity from
an early age, first to the parents and later on to the
patient. Besides, the reconstruction of the clitoris is
technically easier at that time (2,6,7,8).
Concerning vaginoplasty, our experience
shows how, with different virilization degrees and
length of the urogenital sinus, we have arrived at different results (Table II). Thus, for patients having short
SUGs (<1cm) the clitoroplasty and vaginoplasty were
done in a single surgical step, making a posterior cut,
of the cut-back type and obtaining very good final
results in this series.
In patients showing a greater degree of virilization (Prader 3, or length of the sinus >1.3 to
2 cm), approaches have included effecting a partial
mobilization of the sinus associated to a Fortunoff flap
(9,10). In these cases the follow-up has shown that
there is a better evolution in patients on whom the procedure is done in a second surgical time, rather than
at earlier ages. These results could be explained by
the hormonal increase in these patients at that age,
which would enhance the malleability of the tissues
and their vascularization (2).
On the other hand, menstruation would help
to maintain the permeability of the channel, therefore,
added to the hormone changes, this would give a
better final result of the procedure (2). The fact that
older patients can collaborate with the post operative
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J. M. Escala, Y. Cadena, P. J. López et al.
handling, effecting dilatations if they were necessary
or using vaginal tampons, could also influence the
results.
However, other studies show that adequate
results can be obtained at earlier ages (2, 11). Gosalbez et al. (3) carries out a mobilization of the SUG in
those cases, substituting the use of the Fortunoff flap,
by a flap obtained from the SUG itself. In that study, at
the mean age of 3.8 years and showing good results
at the time of evaluation, great importance is given to
the urethral length for the procedure. As our study is
retrospective, this precise data was unfortunately not
recorded in all cases.
In longer SUGs (>3cm) and greater virilization degrees (Prader 4), we are using the posterior sagital approach described by Peña (12,13). Although
this approach was first described for anomalies of the
cloacal type, with total mobilization (12,13), since
then one of the main authors (R.Z) has promoted this
approach for other anomalies and urologic problems; the results on SUG in this series are comparable
to those of the literature (2,3,4,10,11). This approach allows a large exposure of the surgery field and
facilitates an adequate mobilization. One patient of
this group, on whom vaginoplasty was effected at the
same time as clitoroplasty, shows a good aspect, although it was necessary to effect vaginal dilatations
as it was too narrow.
The main criticism to be made to this technique is that it could generate urinary incontinence
FIGURE 2. Position for the posterior sagital approach.
(2, 12). This has not occurred to date in our series,
besides, it has been seen that in time and with vesical training the risk of incontinence diminishes (14).
Furthermore the preservation of the pubouretral ligament, both in total and partial mobilization gives better results in incontinence (10).
Thus, the long-term results show that the main
problem of the patients having had early vaginoplasty
is the narrowness of the vagina (5/16 in our series),
this interferes with the sexual activity of the patient,
therefore it has been recommended to effect it in a
second phase, at the onset of puberty, to prevent vaginal stenosis and should dilatation be necessary, it
can then be done adequately.
For this same type of patients, it is also possible to carry out a full mobilization of the SUG, which
has been done via perineal approach although at older ages than clitoroplasty, there are data published
with mobilizations at a mean age of 4 years and with
good final results (4); this has also been done in patients of less than 3 years and 5.9 years (16,17).
On the other hand, and being conscious that
the aesthetic aspect is difficult to evaluate, the results
in our patients are of acceptance by the girls themselves the parents and the surgery team.
In spite of all the procedures carried out and
the progress in the management of the pathology,
FIGURE 3.Vaginal dissection, posterior sagital
approach.
FEMINIZING GENITOPLASTY IN ADRENAL CONGENITAL HIPERPLASIA: ONE OR TWO SURGICAL STEPS?
729
REFERENCES AND RECOMENDED READINGS
(*of special interest, **of outstanding interest)
FIGURE 4. Final result of the posterior sagital
approach.
where a good aesthetic and functional result is sought, some long term studies (5, 7, 15) show that in
patients undergoing feminizing genitoplasty due to
congenital adrenal hyperplasia, the results are disheartening, as the patients show sexual dysfunction,
diminution of sensibility and an unfavorable aesthetic
result, therefore there are trends that prefer to postpone all procedures to a later stage (5).
In our practice, we prefer to carry out clitoroplasty at an early age, if possible before 6 months,
and the vaginoplasty later on, when conditions are
more suitable for it.
CONCLUSIONS
The best timing for a vaginoplasty in congenital adrenal hyperplasia is still being debated. Based
on the results of this series, we prefer to effect clitoroplasty at an early age, together with vaginoplasty in
the less severe cases, such as Prader 2 or SUGs under
1 cm.
For patients with deeper virilization degrees
and/or length of the urogenital sinus >3 cm, we prefer to carry out a vaginoplasty by posterior sagital
approach in a second stage, to obtain better aesthetic and functional results and avoid carrying out additional procedures.
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