4

Congenital Malformation of
Female Genital Organs

INTRODUCTION main symptom is uncontrollable wetness. Partial

nephrectomy and ureterectomy may be indicated or
From the embryological considerations, the following
implantation of the ectopic ureter into the bladder
facts can be deduced.
may be done.
Developmental anomalies of the external genitalia
along with ambiguity of sex are usually genetic
in origin
VAGINAL ABNORMALITIES
Major anatomic defect of the genital tract is usually The significant abnormalities include:
associated with urinary tract abnormality
Narrow introitus Hymen abnormality
(40%), skeletal malformation (12%), and
Septum Agenesis Associated abnormalities
normal gonadal function
While minor abnormality escapes attention, it is NARROW INTROITUS
the moderate or severe form, which will produce
gynecologic and obstetric problem. The existence is revealed after marriage. Dyspareunia
may be the first complaint, or it may be detected during
investigation of infertility. Treatment is effective
DEVELOPMENTAL ANOMALIES OF by manual stretching under general anesthesia or
THE EXTERNAL GENITALIA by surgical enlargement (Perineoplasty/Fenton’s
operation, see p. 592).
PERINEAL OR VESTIBULAR ANUS
The entity is detected at birth. The usual anal opening HYMEN ABNORMALITY
site is evidenced by anal pit. The anal opening Gross hymenal abnormality of significance
is situated either close to the posterior end of the is imperforate hymen. It is due to failure of
vestibule or in the vestibule. Rarely, it is situated disintegration of the central cells of the Müllerian
in the vagina (congenital rectovaginal fistula). The eminence that projects into the urogenital sinus
opening is usually sufficiently big and continence is (see p. 36). The existence is almost always unnoticed
present. There is no problem in future reproduction. until the girl attains the age of 14–16 years. As the
The delivery should be by cesarean section (see p. 47). uterus is functioning normally, the menstrual blood
If there are features of obstruction or the opening is pent up inside the vagina behind the hymen
is situated high in the vagina, pull through operation (cryptomenorrhea). Depending upon the amount of
is to be done bringing the anal end to the anal pit with blood so accumulated, it first distends the vagina
prior colostomy. (hematocolpos). The uterus is next involved and
the cavity is dilated (hematometra). In the late and
ECTOPIC URETER neglected cases, the tubes may also be distended
The additional ureteric opening is usually in the after the fimbrial ends are closed by adhesions
vestibule close to the urethra or in the vagina. The (Hematosalpinx) (Fig. 4.1).
42 TEXTBOOK OF GYNECOLOGY

Fig. 4.1: Hematocolpos and hematometra due to Fig. 4.2: Ultrasonographic view of hematometra and
hematocolpos in a girl with imperforate hymen
due to distension of the vagina by blood

Clinical features: The girl is aged about 14–16 years. is either from the desquamated vaginal epithelial cells
The chief complaints are periodic lower abdominal or from the cervical glands.
pain, which may be continuous, primary amenorrhea
Treatment
and urinary symptoms, such as frequency, dysuria or
even retention of urine. In fact, in significant cases Cruciate incision is made in the hymen. The quadrants
the presenting feature may be the retention of urine. of the hymen are partially excised not too close to the
The cause of retention is due to elongation of the vaginal mucosa. Spontaneous escape of dark tarry
urethra (Fig. 4.1). colored blood is allowed (Fig. 4.4).
Abdominal examination reveals a suprapubic Pressure from above should not be given. Internal
swelling, which may be uterine or full bladder. Prior examination should not be done. The patient is put
catheterization reveals the true state. to bed with the head end raised. Antibiotic should be
given. The residual pathology, if any, may be detected
Vulval inspection reveals a tense bulging membrane
by internal examination after the next period is over.
of bluish coloration (Fig. 4.3). In majority, however, it
is not the true hymen but the obstructing membrane is
a transverse vaginal septum close to the inner aspect VAGINAL MALDEVELOPMENTS
of the hymen. Rectal examination reveals the bulged
vagina. Ultrasonography can make the diagnosis of Common variations of vaginal maldevelopments
hematometra and hematocolpos (Fig. 4.2).
Agenesis of vagina
In newborn (usually within one week of birth),
accumulated mucus behind the imperforate membrane Failure of vertical fusion
gives the clinical entity of mucocolpos. The secretion Failure of lateral fusion
 Chapter 4 CONGENITAL MALFORMATION OF FEMALE GENITAL ORGANS 43

Fig. 4.3: Tense bulging of the hymen Fig. 4.4: Spontaneous escape of dark tarry blood
in hematocolpos following incision

Etiological factors for Müllerian malformations detect hematometra, hematocolpos, and also urinary
are not clearly understood. The probable causes are: tract malformations. The principles of surgical
polygenic, multifactorial, teratogens, or environmental. treatment are the same. Septum in the upper vagina is
Pathology of Müllerian malformation: It may be often perforated. Incision of a complete (imperforate)
due to failure of formation of the vaginal plate or due septum becomes easy when the upper vagina is
to its failure of canalization or cavitation. distended. This reduces the risk of injury to adjacent
organs. Otherwise abdominovaginal approach (see
Vertical fusion defects result in failure of fusion of p. 44) is made.
the Müllerian system with urogenital sinus. It may
Longitudinal septum of the vagina may be present
also be due to incomplete or segmental canalization
when the distal parts of the Müllerian ducts fail to
of the vagina.
fuse (fusion failure). It may be associated with double
Disorders of lateral fusion are also due to failure uterus and double cervix. It may be asymptomatic and
of the two Müllerian ducts to unite. This results in needs no treatment. But it may cause dyspareunia or
double uterovaginal canals. Such malformation may may obstruct delivery. In such circumstances, the
be obstructive or nonobstructive. septum is to be excised. Results of surgery are good
Transverse vaginal septa are due to faulty fusion or in terms of achieving pregnancy.
canalization of the urogenital sinus and the Müllerian PARTIAL AGENESIS OF UPPER VAGINA
ducts. About 45% occur in the upper vagina, 40%
in mid vagina and 15% in the lower vagina. Septum A segment of vagina may be atretic in the upper-third.
located in the lower vagina is often complete and the It is often associated with hypoplasia or even absence
signs and symptoms are similar to that of imperforate of cervix. Uterus may be normal and functioning or
hymen. Ultrasonography is a useful investigation to malformed. Primary amenorrhoea (cryptomenorrhea),
44 TEXTBOOK OF GYNECOLOGY

hematometra, hematocolpos, cyclic lower abdominal Complications of vaginoplasty: During surgery VVF,
pain and presence of lower abdominal mass (as felt RVF, infection and bleeding are the important ones.
per abdomen or per rectum) point to the diagnosis. Dyspareunia, restenosis are common late complications.
Conventional treatment is hysterectomy. Currently,
abdominovaginal approach is made to establish ASSOCIATED ABNORMALITIES
communication between the uterovaginal canal above
and the newly created vagina below. Prosthesis is Associated abnormalities with:
used to prevent restenosis. The result is, however, not a. is formed when the Müllerian
always satisfactory though successful pregnancy and eminence ruptures into the vesicourethral part
live birth have been reported. When hysterectomy of the cloaca instead of the pelvic part of the
is considered, ovaries should be conserved. This urogenital sinus (see Fig. 3.4D).
gives the benefit of endogenous estrogen. Assisted
b. Rectovaginal fistula when the Müllerian
reproductive technology would be the option, when
eminence opens in the dorsal segment of the
desired, using a surrogate uterus.
endodermal cloaca.
COMPLETE AGENESIS c. Persistent urogenital sinus with various
Complete agenesis of the vagina is almost always the sinus.
associated with absence of uterus. There is, however,
presence of healthy gonads and fallopian tubes. The UTERINE ANOMALIES
patient is phenotypically female, with normal female
karyotype pattern. The entity is often associated Uterine anomalies are often associated with vaginal
with urinary tract (40%) and skeletal (12%) maldevelopment.
malformation. This is called Mayer-Rokitansky- American Fertility Society (AFS) Classification of
Küster-Hauser syndrome. The patient usually seeks Müllerian Anomalies (1988) are (Figs 4.5A to F):
advice for primary amenorrhea and dyspareunia.
Class I: Müllerian agenesis/Hypoplasia—segmental,
Treatment of such patients needs repeated Class II: Unicornuate uterus, Class III: Didelphys
psychological counseling. Often they are depressed uterus, Class IV: Bicornuate uterus, Class V: Septate
concerning their sexual and reproductive life. uterus, Class VI: Arcuate uterus, and Class VII:
Treatment options are: (1) Nonsurgical, (2) Surgical. Diethylstilbestrol (DES)-related abnormality.
1. Nonsurgical method: Repeated use of graduated
Incidence of Müllerian abnormalities: It varies
vaginal dilators for a period of 6–12 months.
between 3 and 4%. The incidence is found to be high
Presence of a vaginal dimple (1 cm) is often
in women suffering from recurrent miscarriage or
seen. This method (Frank, 1938) is a simple and
preterm deliveries (5–20%).
effective one.
2. Surgical methods various procedures of vaginal Failure of development of one or both
reconstruction (vaginoplasty) are done. Müllerian ducts
a. McIndoe-Reed procedure (1938): A space is The absence of both ducts leads to absence of uterus,
created digitally between the bladder and the including oviducts. There is absence of vagina as well.
rectum. Split thickness skin graft is used over Primary amenorrhea is the chief complaint.
a mould. This mould is kept in this neovaginal The absence of one duct leads to a unicornuate
space. uterus with a single oviduct.
b. Williams Vulvovaginoplasty (1976): A
vaginal pouch is created from skin Failure of recanalization of
the Müllerian ducts
This is not done these days. Agenesis of the upper vagina or of the cervix—This
c. Vaginoplasty with amnion graft may lead to hematometra as the uterus is functioning
(Chakraborty, Konar, 2004) see p. 456. (discussed above).
 Chapter 4 CONGENITAL MALFORMATION OF FEMALE GENITAL ORGANS 45

A B C D E F
Figs 4.5A to F: üllerian ducts

Failure of fusion of Müllerian ducts DES-related abnormality (Fig. 4.6C): It is due

In majority, the presence of deformity escapes to DES exposure during intrauterine life. Varieties
attention. In some, the detection is made accidentally of malformations are included, e.g. Vagina:
during investigation of infertility or repeated Adenosis, adenocarcinoma. Cervix: Cockscomb
pregnancy wastage. In others, the diagnosis is made cervix, cervical collar. Uterus: Hypoplasia,
during D + E operation, manual removal of placenta T-shaped cavity, uterine synechiae. Fallopian
or during cesarean section. tube: Cornual budding, abnormal fimbriae. Such
cases are not seen now.
Types of fusion anomalies (Figs 4.5A to F) Clinical features
Arcuate (18%): The cornual parts of the uterus As previously mentioned, the condition may not
remains separated. The uterine fundus looks concave produce any clinical manifestation.
with heart-shaped cavity outline (Fig. 4.6D).
Gynecological
Uterus didelphys (8%): There is complete lack of i. Infertility and dyspareunia are often related in
fusion of the Müllerian ducts with a double uterus, association with vaginal septum.
double cervix and a double vagina (Fig. 4.5C).
ii. Dysmenorrhea in bicornuate uterus or due to
Uterus bicornis (26%): There is varying degrees cryptomenorrhea (pent up menstrual blood in
of fusion of the muscle walls of the two ducts. rudimentary horn).
Uterus bicornis bicollis: There are two uterine iii. Menstrual disorders (menorrhagia, crypto-
cavities with double cervix with or without menorrhea) are seen. Menorrhagia is due to
vaginal septum. increased surface area in bicornuate uterus.
Uterus bicornis unicollis: There are two Obstetrical
uterine cavities with one cervix. The horns may i. Midtrimester abortion which may be recurrent.
be equal or one horn may be rudimentary and ii. Rudimentary horn pregnancy may occur due to
have no communication with the developed transperitoneal migration of sperm or ovum from
horn (Figs 4.5D and 4.6F). the opposite side. Cornual pregnancy (ectopic)
Septate uterus (35%): The two Müllerian ducts inevitably ends in rupture around 16th week.
are fused together but there is persistence of iii. Cervical incompetence.
septum in between the two either partially (sub iv. Increased incidence of malpresentation—
septate) or completely (Figs 4.5E and 4.6A and B). transverse lie in arcuate or subseptate, breech in
Uterus unicornis (10%): Failure of development bicornuate, unicornuate or complete septate uterus.
of one Müllerian duct (Figs 4.5B and 4.6E). v. Preterm labor, IUGR, IUD.
46 TEXTBOOK OF GYNECOLOGY

Fig. 4.6A: Hysteroscopic view of a septate uterus Fig. 4.6B: Ultrasonographic view of a septate
uterus

Fig. 4.6C: Hysterographic view of T-shaped Fig. 4.6D:

by laparoscopy

Fig. 4.6E: Unicornuate uterus Fig. 4.6F:

laparoscopy
Fig. 4.6: Hysteroscopic (A); Ultrasonographic (B); Hysterographic diagnosis of
 Chapter 4 CONGENITAL MALFORMATION OF FEMALE GENITAL ORGANS 47

vi. Prolonged labor—due to incoordinate uterine of abdominal metroplasty in terms of live birth is
action. high (5–75%).
vii. Obstructed labor—obstruction by the nongravid Hysteroscopic metroplasty is more commonly
horn of the bicornuate uterus or rudimentary horn. done. Resection of the septum can be done either by a
viii. Retained placenta and postpartum hemorrhage resectoscope or by laser (see p. 622). Advantages are:
where the placenta is implanted over the uterine (a) High success rate (80–89%), (b) Short hospital
septum. stay, (c) Reduced postoperative morbidity (infection
or adhesions), and (d) Subsequent chance of vaginal
Diagnosis: Internal examination reveals septate vagina delivery is high compared to abdominal metroplasty
and two cervices. Passage of a sound can diagnose two where cesarean section is mandatory.
separate cavities. In fact in significant number of cases,
the clinical diagnosis is made during uterine curettage,
ABNORMALITIES OF THE
manual removal of placenta or cesarean section. For
exact diagnosis of the malformation, internal as well as FALLOPIAN TUBES
external architecture of the uterus must be visualized.
For this reason several investigations in different The tubes may be unduly elongated; may have
combinations are done, such as hysterography (see accessory ostia or diverticula. Rarely, the tube may
p. 588), hysteroscopy (see p. 619), laparoscopy be absent on one side. These conditions may lower
(see p. 121), ultrasonography (vaginal probe) (Fig. the fertility or favor ectopic pregnancy.
4.6B) and magnetic resonance imaging (MRI).
Ultrasonography and MRI are noninvasive procedures. ANOMALIES OF THE OVARIES
Urological tract is also evaluated at the same time.
The renal tract abnormality in association with There may be streak gonads or gonadal dysgenesis,
Müllerian abnormality is about 40%. Skeletal which are usually associated with errors of sex
system anomaly (12%) is also associated. chromosomal pattern. No treatment is of any help.
Accessory ovary (division of the original ovary into
Treatment: Mere presence of any uterine two) may be rarely (1 in 93,000) present. Rarely,
malformation per se is not an indication of surgical supernumerary ovaries may be found (1 in 29,000)
intervention. in the broad ligament or elsewhere. This can explain
Reproductive outcome: Better obstetric outcome in a rare event where menstruation continues even after
septate uterus (86%), bicornuate uterus (50%) has removal of two ovaries.
been mentioned. Unicornuate uterus has very poor
(40%) pregnancy outcome. No treatment is generally WOLFFIAN REMNANT
effective. Uterus didelphys has best possibility of ABNORMALITIES
successful pregnancy (64%). Unification operation
is generally not needed. Other causes of infertility or
The outer end of the Wolffian (Gartner) duct may be
recurrent fetal loss must be excluded.
cystic, size of pea, often pedunculated (hydatid of
Rudimentary horn should be excised to reduce Morgagni) and attached near the outer end of the tube.
the risk of ectopic pregnancy (8%) The tubules of the Gartner’s duct may be cystic, the
Unification operation (bicornuate/septate outer ones are Kobelt’s tubules, the middle set, the
uterus) is, therefore, indicated in otherwise epoophoron and the proximal set, the paroophoron.
unexplained cases with uterine malformation. Small cyst may arise from any of the tubules. A
Abdominal metroplasty could be done either by cystic swelling from the Gartner duct may appear
excising the septum (Strassman, Jones, and Jones) in the anterolateral wall of the vagina, which may be
or by incising the septum (Tompkins). Success rate confused with cystocele.
48 TEXTBOOK OF GYNECOLOGY

OTHER ABNORMALITIES
1. LABIA MINORA: Labial fusion: (a) True due to

543).
2. LABIA MAJORA: (a) Hyperplastic or hypoplastic
labia. (b) Abnormal fusion in adrenogenital
syndrome (see p. 440).
3. CLITORIS: Clitorial hypertrophy—often associated
with various intersex problems (see p. 440).
4. PERINEUM: Perineum differentiates from
the area of contact between the urorectal
septum (mesoderm) and the dorsal wall of
Fig. 4.7: Parovarian cyst cloaca (endoderm) at about 7th week. This
site of contact between the two is the perineal
PAROVARIAN CYST body. Malformations of the perineum are rare.
It arises from the vestigial remnants of Wolffian
tissue situated in the mesosalpinx between the tube result of abnormal development of the urorectal
and the ovary. This can attain a big size. The cyst septum (see p. 41). This is due to the posterior
is unilocular; the wall is thin and contains clear deviation of the septum as it approaches the
translucent fluid. The ovarian fimbria with the ovary cloacal membrane. Anal agenesis and fistula
is stretched over the cyst (Fig. 4.7). The wall consists are rare.
of connective tissue lined by single layer of low posterior aspect of the vestibule of the vagina
columnar epithelium.

Key Points
Developmental anomalies of the external genitalia along with ambiguity of sex are usually genetic in origin.

symptom. Cruciate incision of the hymen is the treatment. Major anatomic defect of the genital tract is usually
associated with normal gonadal function and urinary tract abnormalities.

While minor abnormality escapes attention, it is the moderate or severe form which will produce gynecologic
and obstetric problems (see p. 45). For exact diagnosis of malformation both the internal and external architecture
of the uterus must be viewed. Failure of fusion of Müllerian ducts may lead to arcuate, bicornuate, septate or
didelphys uterus.

While gynecological symptoms are far and few but at times, they may produce infertility or obstetric problems
such as recurrent miscarriage, cornual pregnancy, preterm labor or even obstructed labor (see p. 45).

indicated in otherwise unexplained cases of infertility or repeated pregnancy wastage. Hysteroscopic metroplasty
has got many advantages (see p. 47).

Vaginal agenesis is most commonly due to Mayer-Rokitansky Kuster-Hauser Syndrome. In such a case urologic
(40%) and skeletal (12%) anomalies are associated. Treatment may be nonsurgical or surgical (see p. 44).

Nearly 15–20% of women with recurrent miscarriage are associated with malformation of the uterus.