ADOLESCENT GYNECOLOGY 0889-8545{00 $15.00 + .

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CONGENITAL MALFORMATIONS
OF THE GENITAL TRACT
D. K. Edmonds, MBBS, FRCOG, FRANZCOG

Developmental abnormalities of the genital tract are a challenging

group of disorders, especially in children and adolescents. The gynecolo-
gist must manage anatomic as well as psychologic problems associated
with these disorders. The patient and her parents or guardians must be
involved in treatment planning. Congenital malformations of the genital
tract are associated with a psychologic morbidity that extends through-
out the patient's adult life. These women never completely resolve their
feelings of imperfection, and continued lifetime support is an important
consideration. Few centers currently offer this type of multidisciplinary
approach. Almost no psychiatrist or psychologist is trained in the man-
agement of these problems and because of the unusual nature and
infrequency of their occurrence, few opportunities exist for training to
develop expertise. Consideration should be given to centralization of
care to designated clinicians with a special interest. All too often, the
anatomic defects are the overwhelming priority, with an almost complete
dismissal or lack of consideration of the holistic approach that is neces-
sary in the management of these patients.

EMBRYOLOGY
To appreciate the complexity of congenital malformations, the clini-
cian must understand the developmental processes that occur in the
achievement of normal sexual differentiation and development and the
reasons why this process may be aberrant.

From Queen Charlotte's and Chelsea Hospital, London, England

OBSTETRICS AND GYNECOLOGY CLINICS OF NORTH AMERICA

VOLUME 27 • NUMBER 1 • MARCH 2000 49

50 EDMONDS

The default state in human development is female. The Y chromo-

some must be present for the human embryo to differentiate into a male.
The undifferentiated gonad has the potential to become a testis or an
ovary depending on the influence of the genetic makeup of the embryo.
The presence of a Y chromosome containing a DNA sequence on the
short arm known as the sex-determining region of Y (SRY) leads to
the production of testicular-determining factor, which is responsible for
controlling the development of the testis from the undifferentiated go-
nad. The SRY gene may not be found uniquely on the Y chromosome,
such as in XX males. H-Y antigen, also on the short arm of the Y
chromosome, is essential for the organization of seminiferous tubules
within the testis. The developing testis then differentiates to produce
Sertoli and Leydig cells. Human chorionic gonadotropin stimulates these
Leydig cells such that by 9 weeks' gestation, the steroidogenesis produc-
ing testosterone is established completely. The Sertoli cells are responsi-
ble for the production of mullerian inhibitory factor (MIF), otherwise
known as antimullerian hormone (AMH). This glycoprotein is responsi-
ble for inducing mullerian regression in the normal male. It is locally
acting and responsible for the regression of the mullerian duct on the
ipsilateral side. The absence of one testis leads to failed production of
AMH and unilateral regression.
The Leydig cells produce testosterone, which stimulates wolffian
development, leading to the development of the internal structures that
are male, that is, the vas deferens, epididymus, and seminal vesicles.
Testosterone is unable to masculinize the cloaca and urogenital sinus
and must be converted peripherally by SCi-reductase to produce dihy-
drotestosterone. This local androgen is responsible for virilization and
the development of the penis and scrotum.
Individuals who fail to produce MIF have persistence of the mime-
rian ducts despite an XY karyotype. If the Leydig cells are unable to
produce testosterone because of a biosynthetic defect, the wolffian ducts
regress, and the external genitalia remains female. If a defect occurs in
the biosynthesis of Sa-reductase, testosterone maintains the wolffian
ducts, the external genitalia do not virilize, and the phenotypic appear-
ance is female. Similarly, any defect of the androgen receptor leads to
an inability to recognize testosterone secretion, regression of the wolffian
structures, and persistence of the external genitalia as female. These
individuals have testes that produce mullerian inhibitor, and, as a result,
the mullerian structures regress. In this condition, known as androgen
insensitivity, both mullerian and wolffian structures normally disappear.
Female differentiation occurs because the lack of a Y chromosome
causes the undifferentiated gonad to develop into an ovary. The ovary
contains oogonia, which undergo sequential development to become
fully mature ovarian follicles by 20 weeks' gestation. Because the ovary
does not produce miillerian inhibitor, the mullerian ducts persist and
develop into the uterus, fallopian tubes, cervix, and vagina. The failure
to produce testosterone leads to wolffian regression; hence, the default
state in human development is female. In the XX female, exposure to
 CONGENITAL MALFORMATIONS OF THE GENITAL TRACT 51

androgen in utero leads to cloacal virilization; however, because only

testosterone can stimulate wolffian development, other androgens pro-
duced by the adrenal glands cannot lead to wolffian duct persistence.
These girls have normal internal female genitalia with varying degrees
of cloacal virilization. This condition usually results from congenital
adrenal hyperplasia.
In individuals with a karyotype of 45 XO, the ovaries develop
normally until around 20 weeks' gestation. The absence of a second X
chromosome means that subsequent follicular maturation fails, particu-
larly the envelopment of the oocyte by granulosa cells, and massive
atresia occurs. By birth, almost all the oocytes have undergone atresia,
and only a streak gonad remains.
Some individuals may have a mosaic makeup in which two cell
lines are present in differing proportions. The influence of the individual
cell line on subsequent sexual determination and differentiation deter-
mines which of the two cell lines is the most dominant. In individuals
in which the mosaicism contains a predominance of the Y chromosome,
male differentiation occurs. A minority of cells exhibiting the Y chromo-
some lead to a female phenotype. Individuals with a more balanced
mosaic may present with either true hermaphroditism or an intersex
state.

TIME OF PRESENTATION OF CONGENITAL

ANOMALIES

Gynecologists rarely are involved in the care of nenonates or infants

with congenital abnormalities of female development because such treat-
ment is now provided by the pediatrician and the pediatric surgeon in
most areas. Nevertheless, these conditions persist into adult life, at
which time the involvement of a gynecologist is likely. The neonate or
child may present with several different conditions. The most common
disorder is ambiguous genitalia. Other abnormalities include an imperfo-
rate hymen, duplication of the vulva, or cloacal abnormalities. The
imperforate hymen may present in the neonatal period with retention
of mucus and cellular debris within the vagina and may lead to a
hydromucocolpos. This collection may present as an abdominal mass,
which in a neonate or infant should raise the suspicion of an imperforate
hymen. Clinical examination may reveal a bulging membrane if an
adequate view of the genitalia can be gained." Accurate imaging is
critical before any surgical procedure. Once the diagnosis is established,
the hymen may need to be incised to allow drainage.
Most gynecologists become involved in the treatment of congenital
malformations when the patient reaches puberty or beyond. Vaginal
and uterine atresia, obstructed outflow tract disorders, cervical atresia,
urogenital sinus disorders, and virilization disorders may be seen. The
main presenting symptom at this age is amenorrhea, although in disor-
ders of transverse fusion of the genital tract, menstruation from a unilat-
52 EDMONDS

eral horn of the uterus may still occur, leading to normal menstrual
loss. Failure of the establishment of one or more aspects of pubertal
development usually leads to the presentation of the child in her early
teenage years. A sensitive and detailed investigation of these circum-
stances is necessary if confidence is to be gained, and failure of the
clinician to respond to these circumstances with sensitivity will lead to
lifelong problems for the child.
Because few gynecologists are involved in the management of in-
tersexual problems in the neonate, readers are referred to appropriate
pediatric surgical texts for further information on these disorders.

CONGENITAL MALFORMATIONS OF THE VULVA

Because female development of the external genitalia is the default

state, and because only the presence of androgen can influence this
process, the vulva is spared in almost all genital malformations. Adoles-
cents exposed to androgens, usually as a result of congenital adrenal
hyperplasia, may present with virilization. Surgical correction can be
attempted during the first 2 to 3 years of life; however, subsequent
surgical intervention during the adolescent years may be necessary in
some individuals.

Congenital Adrenal Hyperplasia

Girls with congenital adrenal hyperplasia have varying degrees of

virilization depending on the degree of androgen production in utero.
The degree of virilization can be rated using the Prader scale in which
a score of 5 represents complete virilization and a score of 0 the normal
female. As masculinization of the vulva becomes greater, features of
the vulva will change. Two aspects of cloacal development may be
affected-the appearance of the clitoris, with excessive phallic growth,
and the appearance of the vulva. In normal development, the urogenital
sinus allows the urethra to exit in the midvulval position between the
clitoris and the vaginal opening. As virilization progresses, the urethra
becomes enclosed and tends to open at the base of the phallus, similar
to a hypospadias. As the vulva becomes occluded by labial fusion,
the perineal body becomes increasingly thickened. The vagina, which
normally opens into the perineum, becomes increasingly internalized
and may enter the urogenital sinus, with a shared opening with the
urethra. In severe cases, the vagina may enter the urethra close to the
bladder base and some prostatic tissue and a verumontanum may arise.
In these girls, the vulva has a single opening on a flat perineum. No
labial folds exist owing to their fusion in the midline. Micturition is
normal; however, in severe cases, menstruation may occur only at the
time of micturition.
The vulva is the external evidence of femininity for the girl in early
 CONGENITAL MALFORMATIONS OF THE GENITAL TRACT 53

adolescence, and its failure to conform with normal anatomy is ex-

tremely damaging psychologically. These girls manifestly feel abnormal
and often report a feeling of maleness, and pediatric surgeons appropri-
ately attempt correction of these abnormalities in early childhood. For
most patients, particularly the less severe cases, the outcome is excellent,
and the vulval appearance, although not perfect, is acceptably female.
Surgery involves management of the enlarged clitoris and is complex.
More than 30 years ago, the approach to the enlarged phallus in these
girls was clitoridectomy and total removal of this sensory organ. During
the 1970s, a more liberal attitude developed toward the clitoris and its
sensory properties, and reduction clitoroplasty with salvation of the
glands and its associated neurovascular bundle became p opular. 14, 27 This
approach was based on the philosophy that retention of the glands
would be associated with the possibility of sensory pleasure in adult
life. Unfortunately; recent studies suggest that the sensory aspect of this
procedure may be far from satisfactory; and that the sexual pleasure
associated with clitoral stimulation may require vascular engorgement
of the clitoris, with many women reporting no particular sensory advan-
tage at all after this procedure (D. Grant, MD, unpublished data, 1996).
Recessive clitoral reconstruction may lead to better results owing to
preservation of the clitoris." Debate continues in regards to the best
management of this situation and whether these patients should be
allowed to choose the type of surgery to the phallus in later years
depending on the severity of their problem. Although the phallus may
seem disproportionately enlarged in early childhood, this defect may
not be as noticeable in later years with the lack of androgen exposure
during subsequent development. The advantage of this observational
approach is that women could elect to keep the enlarged phallus for
sexual pleasure and could make their own decisions regarding anatomy
and reconstruction.
The counterargument to this approach is the fact that the patient
must live with genital ambiguity during childhood, during which time
exposure of the genitalia may lead to expressions of anguish by other
individuals. Genital abnormality may also have an impact on subsequent
psychologic health, particularly at the time of puberty. These extraordi-
narily difficult debates are the source of disagreement among different
ethical groups. Most likely; this debate will rage for some time before
any resolution is reached.
Individuals who present to the gynecologist at adolescence with
inadequate anatomic provision for sexual intercourse may require revi-
sion of the vulva. The surgical techniques pioneered by Hendren and
Donahoe" have proved valuable. This surgery is complex and prone to
a high degree of failure when performed by inexperienced surgeons and
should be carried out in specialist centers. A flap vaginoplasty with the
creation of a perineal flap and reconstruction of the perineal body creates
a vagina that is functional; however, the external appearance of the
vulva still fails to meet the expectations of normality. The results inevita-
bly lead to psychologic difficulties, and many girls with congenital
54 EDMONDS

adrenal hyperplasia find it extremely difficult to enter into heterosexual

relationships. The physician must understand that the creation of a
passage for intercourse does not alter the need for appropriate psy-
chologic counseling by persons with specific expertise. Although the
surgery may be anatomically successful, holistically it remains a failure.
Recent studies of the sexual orientation of girls with congenital adrenal
hyperplasia suggest that as many as 30% have homosexual relation-
ships." With the introduction of active psychologic help, this trend can
be completely reversed, and the incidence of homosexuality in this
group may not exceed the incidence found normally in society. These
observations emphasize the extraordinary importance of psychologic
support for this group of patients."
The prospects for fertility in these patients are excellent. Of patients
with simple virilization, almost 100% of women who attempt pregnancy
are successful. In more severe cases of virilization, the incidence of
pregnancy is approximately 15%. Anatomic difficulties with intercourse
may be as important in the failure to achieve a pregnancy as the control
of congenital adrenal hyperplasia from an endocrine point of view. 20, 23
If revisional surgery is planned, it should be performed in a center that
can give the patient the best possible chance for a good anatomic result.

5a-Reductase Deficiency

Children with Sa-reductase deficiency are born with a bifid scrotum

that has a similar appearance to labia. The internal genitalia are male
because these individuals are 46 ~ and the testes are normally func-
tional; however, because of the failure to produce Sa-reductase, the
external genitalia cannot be virilized and have a female appearance. The
phallus is enlarged, and there is a urogenital sinus with a blind vaginal
patch. The testes usually are intra-abdominal but may be located in the
inguinal canal or the scrotum, and mullerian structures are absent.
Because this congenital abnormality involves local defects, the testes
become functional at puberty, and adult virilization occurs normally,
including deepening of the voice and phallic growth. The gonads must
be removed before puberty if the child is to be raised as a girl. This
condition is familial and is most likely an autosomal recessive disorder.
The decisions regarding operation on the phallus are similar to the
arguments in congenital adrenal hyperplasia. Assessment of the phallus
should not be made in neonatal life but after a period of years to
determine whether surgery is advisable. The vagina will need surgical
or nonsurgical correction at a later date. Exploration of the vulva should
be carried out, and surgical correction of the perineum reveals the degree
of lower vaginal development. The surgical approaches are similar to
the techniques in girls with congenital vaginal atresia. These girls are
genetically 46 XY, and consideration of the psychologic impact of this
malformation is important."
 CONGENITAL MALFORMATIONS OF THE GENITALTRACT 55

CONGENITAL ABNORMALITIES OF THE VAGINA

Patients with abnormalities of development of the vagina can be

divided into two groups: (1) girls with a functional uterus and (2) girls
with an absent or rudimentary uterus.

Functional Uterus

Disorders of Longitudinal Fusion

When the two mullerian ducts fuse, a single uterus and vagina
result. The failure of these two hemisystems to unite creates two hemiut-
eri with their appropriate cervices and a double vagina. This vertical
septum does not cause any obstruction of menstrual flow; however, its
presence may lead to failure of penetration, dyspareunia, or obstruction
of labor. The septum should be removed only when it causes symptoms.
When surgery is indicated, the septum should be removed in its entirety.
Because the tissue can be very thick, attention to hemostatic control is
essential. After operation, the anatomic results are excellent, and the
vagina is functionally normal after healing has occurred.
A unilateral vagina may be imperforate, creating a hematocolpos.
These patients often create a diagnostic conundrum because they men-
struate regularly from the normal hernivagina and yet have cyclical
abdominal pain. Many patients are understandably treated for primary
dysmenorrhea. The failure of simple techniques to control the cyclical
pain should prompt the clinician to carry out pelvic imaging because
the presence of hemivagina and hematocolpos easily is visualized on
ultrasound. One must remove the complete septum and not Simply
create a small drainage opening to ensure that subsequent menstrual
drainage is normal. The failure to remove this septum in its entirety
may result in a small ostium through which menstrual blood mayor
may not successfully flow. Bacteria from the normal hemivagina may
enter the contralateral vagina, leading to the formation of an abscess, an
ascending pelvic infection, and septicemia. This life-threatening condi-
tion is avoidable if the correct surgery is carried out initially.

Disorders of Transverse Fusion

In the more common disorders of transverse fusion, primary amen-
orrhea and cyclical abdominal pain are the most common presenting
symptoms. Normal secondary sexual characteristics are present. The
repeated menstrual loss accumulates in the vagina, creating a hemato-
colpos. If the obstruction is very low, such as an imperforate hymen, the
vagina has the capacity to expand enormously and may form a pelvic
abdominal mass that is considerable in size. When the obstruction is
high in the vagina, the upper vaginal capacity is small, and retrograde
menstruation is extremely common. The deposition of this menstrual
56 EDMONDS

blood in the pelvic cavity leads to the development of endometriosis,

which may be severe, and may result in the formation of endometriomas
and the destruction of pelvic architecture.v " Because fertility may be
severely affected, the management of these cases must be swift and
accurate.
The imperforate hymen usually is seen in girls in their early teens.
On clinical examination, the hymen may be visualized as a bulge at the
perineum. The thin membrane allows illumination of the hematocolpos
such that the appearance of the membrane is blue. This finding is
diagnostic of this condition, and no further investigation is needed.
Relief of the obstruction can be obtained by simple surgery with a
cruciate incision in the hymen. The outcome is excellent, and subsequent
fertility rarely is affected in these women.
Transverse vaginal septa may occur in the lower, mid, or upper
vagina. Septa located in the upper vagina usually are thicker than septa
in the lower vagina. Septa located at the junction of the lower third and
upper two thirds of the vagina tend to be no more than 1 em thick.
Most septa tend to occur in the upper vagina at the junction between
the lower two thirds and upper one third of the vagina and are thicker.
The exact cause of this disorder is unknown but is thought to involve a
failure in complete canalization of the vagina by 20 weeks' gestation.
These patients should be examined by ultrasound or by MR imaging
before any surgery. Renal abnormalities should be excluded by appro-
priate imaging techniques to obtain an accurate anatomic assessment
before any attempt at reconstruction.
The surgical outcome depends on the degree of absence of the
vagina. The greater the absence of vaginal tissue, the poorer the outcome.
When obstruction is present and the transverse septum is low in the
vagina, surgery involves incision and drainage of the hematocolpos and
subsequent excision of the vaginal septum in its entirety. A vaginal
advancement can then be made to allow anastomosis of the two ends of
the vagina. The use of vaginal dilators postoperatively results in a
functionally normal vagina. The tissue usually heals so well that the
incision lines are subsequently invisible. Subsequent pregnancy and
vaginal delivery are entirely possible postoperatively. There is no reason
to perform a caesarian section electively, although an episiotomy is wise.
If the surgeon is inexperienced and fails to excise the septum in its
entirety, the healing that subsequently occurs leads to vaginal stenosis.
These stenotic vaginas are extraordinarily difficult to reconstruct at a
later date. The centralization of specialized surgical services may avoid
long-term sexual difficulties.
Surgery for highly placed septa is more difficult. In these cases, an
approach involving both an abdominal incision and a vaginal explora-
tion is necessary. From the abdominal approach, the hematometra and
hematocolpos are identified, and the hematocolpos is incised and
drained from above. The surgeon operating from below may then ex-
plore the rectourethral space, while the surgeon operating above locates
the passage through which the vaginal anastomosis will be made. On
 CONGENITAL MALFORMATIONSOF THE GENITAL TRACT 57

some occasions, an inadequate amount of vaginal tissue is present to

create a satisfactory anastomosis. In these circumstances, operative tech-
niques may need to be employed similar to those used for the reconstruc-
tion of a vagina in congenital absence. Patients must be instructed in the
use of vaginal dilators, or molds must be left in place to avoid significant
stenosis of the vagina. The prospects for normal vaginal function after
this surgery depend on the immediate postoperative dilatation proc-
esses. Even if a normal vagina is created, subsequent fertility is markedly
reduced. In patients with an upper third obstruction, pregnancy rates of
no more than 25% have been reported; in middle third obstruction
cases, 43% of patients have conceived spontaneously." Pregnancy rates
following in vitro fertilization are unavailable but are expected to be
normal. Girls with lower third obstructions have an excellent outcome,
and reassurance usually results in a normal attitude, whereas girls with
upper defects may have long-term sexual difficulties.

Uterus Absent or RUdimentary

Congenital Absence of the Vagina

The incidence of congenital absence of the vagina, known as Mayer-
Rokitansky-Kuster-Hauser syndrome, is approximately 1 in 4000 female
births. It is the second most common cause of primary amenorrhea,
second only to Turner's syndrome. This condition results from failure of
the mullerian ducts to develop. The genetic basis is not clear but is most
likely multifactorial. The syndrome may result from a genetic mutation
or deletion on chromosome 16 because many patients have coincident
renal abnormalities. The recurrence risk in first-degree relatives ranges
from 1% to 5%.5
Individuals with this condition lack a vagina and have complete
absence of the uterus, a rudimentary uterus in the midline, or, more
commonly, rudimentary uterine horns located on the lateral pelvic side
walls. Ovarian function in these women is normal, and, endocrinologi-
cally, the menstrual cycle is normal in length. Gonadotropin production
is pulsatile in the normal manner; at puberty, secondary sexual develop-
ment is normal, and the only outward sign of a problem is primary
amenorrhea."
Forty percent of women with this condition have a renal abnormal-
ity, and approximately 15% have a major defect, such as the absence of
a kidney. The remainder have less severe problems. All patients with
this condition should undergo ultrasonography to determine whether
both kidneys are present.' If the ultrasound fails to identify a normal
urinary system, an intravenous urogram should be performed as the
final definitive procedure. Skeletal abnormalities also have been de-
scribed with this condition. These defects are mainly abnormalities of
the spine, with rudimentary vertebral bodies or absent vertebrae. Occa-
sionally, rib and limb abnormalities may be present."
58 EDMONDS

The diagnosis of this condition is made by clinical examination

in the presence of primary amenorrhea and normal secondary sexual
characteristics. Fibroids may develop in patients with rudimentary uteri
on the lateral pelvic side wall (known as anlage), and these patients
may present with pelvic pain. The anlage may also have functional
endometrium that may shed and cause an anlagal hematometra. This
accumulation causes cyclical abdominal pain and is resolved only by
excision of the rudimentary horns. Examination of the vulva reveals a
short, blind-ending vagina, and subsequent ultrasound or MR imaging
confirms the amount of uterine tissue present. There is no need for
examination under anesthesia or laparoscopy to confirm the diagnosis.

Management
Management of the absent vagina is based on three philosophies:
(1) management of the psychology of the problem, (2) nonsurgical man-
agement, and (3) surgical management.
Girls diagnosed with this condition sustain considerable psy-
chologic problems. Adolescent girls experience emotional turmoil as
they move from childhood to adult maturity. Although their reactions
to circumstances are unpredictable, the news that they have been born
without a vagina and uterus is devastating. Initially, these girls are
shocked. Later, they become profoundly depressed as they realize they
are in some way abnormal. Because girls with an absent vagina view
themselves as freaks, extraordinarily sensitive management is necessary
to maintain their self-esteem. Initially, they feel angry that they have
been cheated of the opportunity to be pregnant and usually are less
concerned about sexual activity. As these individuals enter late adoles-
cence, the problem of intercourse becomes more important. The young
WOman has considerable doubts about her gender and needs constant
reassurance of her femininity. Major cultural issues may arise in which
the inability to have a child is devastating and renders the woman
worthless. In these circumstances, the clinician must be aware of the risk
of suicide.
The child's parents also sustain psychologic problems. They also are
shocked and confused and require enormous reassurance because they
feel blame for their daughter's plight. No evidence suggests that any
environmental factors are involved in the cause of this process, and the
parents must be reassured that their daughter's problem has not been
brought about by some teratogen exposure during pregnancy. If possible,
the parents should become involved in a parental self-help group.
At the author's center, the establishment of a self-help group has
proved invaluable in the management of this condition. Patients benefit
enormously from co-counseling with other patients. Through the experi-
ence of others who have succeeded in coming to terms with their
difficulty, they see a future that is much brighter than they can originally
perceive. Discussions with patients who have subsequently married
 CONGENITAL MALFORMATIONS OF THE GENITAL TRACT 59

and who have either adopted children or been given children through
surrogacy are invaluable. These types of interactions have helped raise
self-esteem enormously. By coordinating the parental self-help group
with the daughter's self-help group and by involving any partners who
wish to offer support, the author has been able to succeed in managing
many psychologic problems. Many girls with an absent vagina have
psychosexual difficulties or are reticent to enter into relationships. They
fear that they will be rejected when such relationships progress to sexual
intercourse. When these girls do meet a partner, they may become
excessively protective of the relationship because they fear they will find
no one else who will be prepared to tolerate the infertility and vaginal
abnormality. When such women enter the phase of life when sexual
intercourse becomes an issue, the creation of a vagina becomes a priority.
Nonsurgical Vaginoplasty. A nonsurgical approach known as
Frank's procedure is the author's first choice for creating a vagina. This
procedure involves the gradual dilatation and stretching of the vagina
using graduated glass or perspex dilators. At the author's center, the
patient is admitted to the hospital for 3 to 4 days, during which time
she is supervised and assisted in learning the technique. At the end of
the hospitalization, most patients are amazed at the progress they have
made. Once the technique is mastered, the patient continues to dilate at
home for an interval of 15 to 20 minutes, three times a day. In 8 to 10
weeks, a vagina is formed that is adequate for sexual intercourse. During
this time, the patient should be seen at 2-week intervals until she
achieves the vaginal length that is desired.
At any time during the dilatation process, the patient may attempt
sexual intercourse and should be encouraged to do so. Success, regard-
less of how minor, is an enormous encouragement to both parties in
persevering with the technique. Dedicated units can expect that 85% of
girls will achieve a functional vagina without a surgical approach." The
creation of a vagina in this fashion does not preclude vaginal disease,
and cases of vaginal intraepithelial neoplasia" and vaginal carcinoma
have been described.': 15
Surgical Vaginoplasty. In the patient who fails to achieve a vagina
through dilatation, a surgical vaginoplasty can be performed. Numerous
operative techniques have been described, all of which have similar
success rates of approximately 80%. The Mclndoe-Reed or Counselor-
Flor modification vaginoplasty involves the use of a partial-thickness
skin graft to line the neovaginal space." The disadvantage of this tech-
nique is that the graft site remains as an external reminder of the
condition and is an unsightly scar. Nevertheless, the technique has good
results in achieving a sexually functional vagina. After the graft has been
fitted on a soft mold, the mold must be worn for 6 weeks. Following this
period, the patient uses vaginal dilators for approximately 3 months. In
amnionvaginoplasty 19 the graft is amnion rather than skin, avoiding an
external graft site. As is true for the skin-grafting technique, the use of
vaginal dilators is required for 3 to 6 months so that vaginal length is
maintained and sexual function is satisfactory. Davidoff" reports a simi-
60 EDMONDS

lar success rate using the pelvic parietal peritoneum to line the neovagi-
nal space.
Williams' vulvovaginoplasty is a misnomer because it is actually a
vulvoplasty." A pouch is created using the labia, permitting sexual
intercourse. Following repeated use of this technique, the vagina tends
to lengthen, similar to the way in which dilators create a vagina in the
Frank procedure. Increased depth is achieved through time; however,
the psychologic impact of destroying the only normal anatomy these
girls have is considerable. In the author's opinion, this operation should
be reserved for circumstances in which no other technique can be em-
ployed. Frequently, the vulvoplasty must subsequently be taken down.
In some situations, particularly in patients in whom previous sur-
gery has been attempted and failed, the surgeon is left with bowel as
the only choice for forming a neovagina. Several procedures have been
described- 13 using different parts of the ileum or colon, although the
cecum of sigmoid colon is most commonly used. Although the technique
is successful in creating a vagina, it is associated with significant morbid-
ity and results in mucous vaginal discharge. For many women, this side
effect causes considerable dismay. Nevertheless, the use of bowel is an
extremely important technique in difficult circumstances.
Psychologic management of these patients must precede any at-
tempt at vaginoplasty, and a nonsurgical approach should be adopted
before a surgical one in all cases. All of the surgical techniques require
the use of dilators, and the failure to persevere will lead to surgical
failure. New techniques of bioengineering may result in the development
of a full-thickness skin preparation that could be used on donor sites.
Such techniques, which are currently used on burn victims, will become
extremely valuable in creating the surgical vagina. The possibility of a
uterovaginal transplant has been considered but not yet attempted.
Bioengineering may result in the development of a uterus created from
the patient's own cells, eliminating the possibility of tissue rejection. As
tissue-engineered organs become a rea.lity, the prognosis for these girls
will improve substantially.

Surrogacy

Use of the patient's own eggs implanted in a gestational carrier has

become an established option for these women. In a recent report" on
34 infants born through this technique in the United States, none had
any abnormality, and a normal uterus and vagina were present in all
offspring. Because of the small recurrence risk of 1% to 5%, considerably
more children must be born to patients before the risk of inheritance is
clear. Women can be counseled that this condition is not the result of
dominant inheritance, and they should progress with this technique with
confidence that their condition is unlikely to be passed on to offspring.
 CONGENITAL MALFORMATIONS OF THE GENITAL TRACT 61

CONGENITAL ANOMALIES OF THE CERVIX

Congenital anomalies of the cervix are extremely rare. This condi-

tion consists of a functional uterus that fails to develop a cervix. In most
circumstances, the vagina is short at the vulval end, and a large gap
exists between the vagina and the uterus. Standard management has
been hysterectomy; however, a recent review" suggests that a surgical
approach can be considered in some cases in an attempt to salvage the
uterus and create a sinus between the uterine cavity and a neovagina.
Because these cases are extremely rare, individual countries should
consider the centralization of services for these rare conditions to im-
prove the results currently available. In the author's experience, 50% of
women who undergo this surgery experience menses. Medications can
be administered preoperatively to stop ovarian function and alleviate
the clinical symptoms of cyclical abdominal pain. In this manner, young
patients and their parents have time to come to terms with the abnormal-
ity and the surgical approaches and choices available. Only after consid-
erable time, in some cases, years, will these girls feel capable of making
such decisions. The performance of a hysterectomy in a teenage girl is
associated with serious psychologic sequelae. The patient and her par-
ents must fully understand the decisions they are making. If they desire
reconstruction, they should again understand the risks and the chances
of success. Salvation of the uterus has led to the ability of these women
to attempt pregnancy through assisted reproduction. Four cases of preg-
nancy have been described thus far, raising hope for these women in
the future."

SUMMARY

Congenital abnormalities of the genital tract are a source of major

morbidity for teenage girls. Careful counseling is as important as the
surgical approach to management. It is imperative that specialist centers
are established worldwide to deal with these problems. Centralization
of services will ensure these girls receive the highest quality care.

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Address reprin t requests to

D. K. Edmonds, MBBS, FRCOG, FRANZeOG
Queen Charlotte's and Chelsea Hospital
Goldhawk Road
London
England W6 OXG