Developmental Abnormalities of the Female Reproductive Organs

INTRODUCTION
An understanding of congenital anomalies as they are encountered in clinical practice is greatly
enhanced by not only a knowledge of normal embryology and the mechanism of formation of normal
infants, but also an insight into the processes that result in the development of anomalies.1, 2, 3, 4 An
awareness of malformations and a systematic examination and appraisal of every neonate will
greatly increase the number of such anomalies found. In some instances, e.g., congenital adrenal
hyperplasia, imperforate anus, diaphragmatic hernia, and esophageal atresia, early detection and
prompt intervention may be lifesaving. In adults, amenorrhea is an important clue and may suggest
an imperforate hymen, vaginal septum or absence of the uterus. The finding of one anomaly should
stimulate a careful gynecologist to carry out a complete study to detect renal and ureteral anomalies,
particularly the solitary pelvic kidney which might be removed as a pelvic mass. Many anomalies
occur infrequently so that only physicians in large medical centers may see them frequently enough
to be aware of the possible anomalies and their causation, prognosis, and, in some cases, correction.
The identification and interpretation of such abnormalities constitute a real challenge to the clinician.
A knowledge of the problems and pitfalls in the MANAGEMENT of these defects will benefit both
the obstetrician and the gynecologic surgeon.
CAUSES OF MALFORMATIONS
The causes of congenital malformations or abnormalities present at birth may be either
environmental or genetic (chromosomal abnormalities).5It is not always easy to separate the two
factors; both may be at work in the same embryo or fetus. Rapidly growing embryonic organs are the
most sensitive to environmental influences. Millen6 has classified the mechanisms of anomaly
production as follows:

1. Developmental arrestcessation of development before completion

2. Agenesis or aplasiafailure of normal development

3. Hyperplasia or local overgrowth

4. Aberrant development

5. Failure of normal resorption (either too much or too little) or resorption in the
wrong locations

6. Secondary degeneration of normally developed structures

Millen also emphasizes that the period when environmental agents may affect the development of
an embryo is very short, being nearly over by the end of the eighth week of pregnancy".
Organogenesis occurs from day 13 to day 60; teratogenic (G. teras, monster) agents are most
dangerous during this period. There is a time relationship between specific organ systems and
sensitivity to environmental factors as well as a relationship between specific teratogens and specific
organ systems. Examples are rubella infections occurring in the first trimester, with a high incidence
of cataracts, deafness, and cardiac malformations, and use of thalidomide, with varied
malformations of arms and legs.
Nugent7 has evaluated in detail the mechanisms of action of various environmental teratogenic
factors. These include the following:

1. Ionizing radiation

2. Vital disease and related infections

3. Chemical factors

4. Immunologic disturbances

5. Hormones

6. Nutritional factors
Ionizing radiation is probably one of the best known damaging factors. Infections such as rubella
virus, cytomegalovirus, and Toxoplasma gondiican cause severe damage to the eyes and central
nervous system. Chemicals include aminopterin (causing skeletal defects and nervous system
damage), methotrexate, and thalidomide. Immunologic disturbances include Rhesus
incompatibilities. Hormone damage is particularly interesting: the administration of exogenous
testosterone, synthetic progestogens, and similar preparations can cause iatrogenic deformities of
the female genitalia. Pathologic hyperandrogenemia, as seen in luteomas of pregnancy, can result in
virilization in the female newborn. Environmental factors, such as exposure to diesel fumes, have
also been associated with virilization due to inhibition of aromatase and accumulation of excess
testosterone.8 Nutritional factors apparently have little direct teratogenic effect on the fetus.

CYTOGENETICS
In 1923, Painter reported that there were 48 chromosomes in the normal human cell. The correct
number of 46 was established in 1956 by Tijo and Levan.9 In 1956, Down syndrome, Turner
syndrome, and Klinefelter syndrome were shown to be the result of chromosomal anomalies.
Porter10 pointed out that we can now distinguish every individual chromosome and different regions
of each chromosome. Normal variants can be defined reliably, extra chromosomes involved in
abnormalities can be identified accurately, small defects previously missed can now be recognized,
and structural defects can be mapped accurately by tracing exchange segments of chromosomes. A
clear cytogenetic diagnosis can serve as a guide to a rational plan of MANAGEMENT , to counseling
with regard to prognosis and genetic problems, and in the monitoring of pregnancies in people with
an increased risk of having children with defects.
There are hundreds of chromosomal abnormalities; most involve visible morphologic defects which
should alert the clinician to the possibility of chromosomal anomalies. Disorders of gonadal
development such as Klinefelter syndrome (47XXY) and Turner syndrome (45X) have been described
with sex chromosome aneuploidy. Even deletions within regions of the X or Y chromosome can be
deleterious to normal development. Gene deletions in the distal arms of the X chromosome (Xp22.3)
cause short stature, mental retardation, X linked ichthyosis, and Kallman syndrome.11 The distal
region of the Y chromosome contains the sex-determining region Y chromosome (SRY) that encodes
the gene for testis-determining factor (TDF).12 Deletions in this region cause gonadal dysgenesis and
streak gonads. Transfer of this region to the X chromosome causes an XX male. Another region of
interest within the Y chromosome is the azoospermia factor region (AZF) that is related to
spermatogenesis. It has been discovered that one subset of gene rearrangements on the Y
chromosome, "micro-deletions", is a major cause of male infertility in some populations.13 With
refined cytogenetic mapping, we will be able to better correlate phenotype with genotype.
The complexity of the rapidly changing field of cytogenetics is not only startling but also a fascinating
promise of new knowledge, new discoveries, and new clinical tools. With these new tools,
challenges emerge for the obstetrician/gynecologist, reproductive endocrinologist, and pediatrician.
Genetic analysis may become routine for every embryo, fetus or neonate. Embryos can be biopsied
and a single cell screened for aneuploidy prior to implantation.14 This technique has the potential to
improve pregnancy outcomes and decrease miscarriage rates, especially in couples with multiple
fetal losses.15 The public health implications are startling and indications for testing are increasing.
GAMETOGENESIS
The union of a spermatozoon and ovum marks the beginning of a new individual. The fertilization of
an ovum is an amazingly complex act. Egg formation (oogenesis) and sperm formation
(spermatogenesis) have many similarities, although they differ with regard to sex determination.
There are 44 somatic chromosomes and two sex chromosomes in the normal human cell.9
Human oogenesis begins with the formation of a primary oocyte which contains 44 + XX
chromosomes. The number of germ cells is fixed during fetal development and cannot be
regenerated. The oocyte undergoes meiosis, a process that generates haploid gametes through a
specialized process that consists of one round of DNA replication followed by two rounds of cell
division. In humans, the oocyte begins meiosis during embryogenesis and remains arrested in
prophase I until ovulation, when meiosis resumes. Completion of this first division resumes with
ovulation and the normal, or diploid number of chromosomes, found in the body cells is reduced to
the haploid (G. haplous, single) number. This occurs so that the normal chromosomal number of 44
somatic chromosomes and two sex chromosomes will be restored after fertilization. During this first

maturation division, the secondary oocyte (22 + X) retains most of the cytoplasm, while the other
half of the nucleus remains as a small first polar body. A second maturation division results in the
formation of the mature ovum (22 + X) plus a second polar body. Meiosis is a requisite step in sexual
reproduction and is critical for generating genetic diversity through recombination. In humans,
meiotic errors lead to reproductive failure via aneuploidy, spontaneous abortion or infertility.16, 17
The progression through meiosis in the male is continuous, and in humans, begins with puberty. This
is in sharp contrast to the female where meiosis is begun during embryogenesis, but is maintained in
a state of prophase I arrest until after puberty when ovulation occurs. The oocyte can be maintained
in prophase arrest for over 40 years. The spermatogonium is formed in the testis, with a
chromosome complement of 44 + XY. This Y sex chromosome determines male development. The
spermatogonium develops into a relatively large spermatocyte (44 + XY). This in turn undergoes a
first maturation (meiotic) division to form secondary spermatocytes, half of which are 22 + X and half
of which are 22 + Y. During a second maturation division, the secondary spermatocytes again divide
into spermatids, half of which are 22 + X and half of which are 22 + Y. After 1 or 2 weeks the
spermatids become mature spermatozoa. Unlike the female where a single primary oocyte yields a
single mature oocyte, a single spermatogonium yields four mature spermatozoa. These spermatozoa
must undergo further changes before they can fertilize an ovum. The first change, known as
capacitation, is a physiologic change probably associated with removal of a protective
coating.18 Following this, an acrosome reaction occurs at the anterior extremity of the spermatozoon,
where small perforations develop in the wall. Enzymes passing through these openings digest a path
for the sperm through the corona and the zona pellucida.
Ovum transport is the mechanism by which the nonmotile ovum is carried by a stream of peritoneal
fluid into the infundibulum of the tube. This stream is produced by sweeping movements of the
fimbriae. The ovum is carried into the tubal ampulla partially by muscular contractions of the tube
but mostly as a result of ciliary action. At any given normal intercourse, over 300 million sperm are
deposited in the vagina near the cervical os. Only a few thousand sperm reach the oviducts and only
a few hundred reach the ampulla, where fertilization usually occurs. As the sperm head advances, it
reaches the surface of the ovum and attaches so that its nucleus is within the membrane of the
ovum. As a result, the zona pellucida changes and the entrance of other spermatozoa is inhibited. At
the same time, the secondary oocyte is completing its second meiotic division and expelling the
second polar body. The male and female pronuclei come into contact near the center of the ovum
and mingle their chromosomes. During the process of fertilization, the chromosomes of father and
mother mingle, the diploid number (46) of chromosomes is restored, and sex is determined by the
presence or absence of the Y, or male, chromosome.
Cleavage
The fertilized egg undergoes a series of rapid mitotic divisions while passing down the tube. After
several days, a ball of cells called the morula (L. morus, mulberry) is formed. After 5 days, a fluidfilled space appears in the morula, which is now called the blastocyst (G. blastos, germ) (Fig. 1.). An
inner cell mass appears on one side of the blastocyst cavity at the site of the embryo. By 6 days the
blastocyst has implanted and the trophoblast cells invade the succulent
endometrium or decidua. During the second week, the embryo becomes a
bilaminar disc (Fig. 2).
Fig. 1. Human blastocyst, showing inner cell mass at 9 o'clock position and
trophectoderm lining periphery.

Fig. 2. Bilaminar embryonic disc. The cells of the embryonic disc

flatter and differentiate into two layers, the epiblast and the
hypoblast. The epiblast differentiates for forma all three layers of
the trilaminar embryonic disc. Extraembryonic endoderm,
including the yolk sac, is derived from the hypoblast. The bilaminar
disc is sandwiched between the amniotic cavity and the yolk sac. The large circle of dark cells is the
cytotrophoblast.
The amniotic cavity appears above the embryonic ectoderm while the blastocyst cavity develops into
the yolk sac. In humans the yolk sac never develops yolk as such but makes important contributions
to organogenesis. Around amnion, yolk sac, and embryo lies the extraembryonic mesoderm in which
isolated lacunas appear. These celomic spaces fuse rapidly and form large areas of extraembryonic
celom (G. koiloma,hollow). During the third week, a three-layered embryo develops, consisting of
ectoderm, endoderm, and mesoderm. A notochord and the notochordal canal develop. The flat
embryonic disk folds into a roughly cylindric shape, and the rapid growth of the embryo results in
folding at both ends of the embryo. At the caudal end, a tail fold, which includes part of the yolk sac,
develops and becomes a hindgut. Part of the hindgut becomes the cloaca, separated from the
amniotic cavity by the cloacal membrane, while a ventral outpouching develops as the allantois
(G. alias,sausage).
Very early in embryonic development, the primitive body cavity (an intraembryonic celom) appears.
Running longitudinally along the sides of the cavity, the anlage of the genital ridges develops.
Primordial cells aggregate along these ridges to form the earliest elements of the future gonads. Two
sets of future duct systems develop. The mesonephric urinary ducts are formed and connect at the
caudal end with the urogenital sinus and the cloaca. The paramesonephric or mllerian ducts
develop lateral and parallel to the mesonephric ducts.19 These urogenital ridges become more
prominent and fuse caudally to form the genital cord. During their development, the
paramesonephric (mllerian) ducts migrate until they lie side by side in the midline. These
paramesonephric ducts develop initially at the cranial ends where funnel-shaped openings
communicate with the future peritoneal cavity. As these ducts develop caudally, they cross the
ventral aspect of the mesonephric ducts to fuse in the midline, resulting in a Y-shaped tubular
structure. The caudal portion of this fused paramesonephric duct forms an elevation known as the
mllerian tubercle, which protrudes into the urogenital sinus. The caudal ends of the mesonephric
ducts enter the urogenital sinus on either side of the mllerian tubercle. Under the influence of the
ovarian hormones (and due to the lack of male hormones in females) the paramesonephric ducts
continue their development to form the genital tract, while the mesonephric system regresses
except for certain vestigial structures. The anterior or cranial portions of the paramesonephric duct
system develop into the oviducts or fallopian tubes; the middle portion develops into the body of the
uterus, while the caudal fused portions become the primordium of the cervix and the upper vagina.
With further development they fuse to form a double-barreled organ which terminates in the
mllerian tubercle located in the dorsal portion of the urogenital sinus. In the early embryo, sexual
differentiation is not apparent until the tenth week of development. After this time the mesonephric

or wolffian ducts regress in the female, leaving a few vestigial fragments, chiefly in the broad
ligament. The paramesonephric or mllerian ducts continue their developmenl to form vagina,
uterus, and tubes (Table 1).
Table 1. Timetable of development of the female genital tract
Size
(mm)

Age
(weeks)*

0.08

7.5 days

Bilaminar disk embryo

0.21

13 days

Yolk sac forming, hindgut, foregut

0.36

20 days

Allantois formed

1.5

2+

Gonocytes are located in yolk sac entoderm

Urogenital ridge begins to form
Wolffian duct appears as coalescence of pronephric ducts
2

Allantois well formed, joins hindgut at cloaca

Cloacal membrane forms as cloaca contacts hind-end ectoderm

Wolffian ducts open into urogenital sinus (cloaca)

Primordium of gonad appears

4+

Primordial germ cells in mesenchyme

1 month +

Indifferent gonad developing

Wolffian ducts open to urogenital sinus

Ureteric buds
External genital tubercle forming
Sex cords budding from celomic epithelium

Anlage of adrenal cortex forms

Urorectal septum starts partition of cloaca

10

Free ends of sex cords form rete testis

Mllerian funnel and duct begin to form
Primary bifurcation of ureteric bud

11

5.5
Sex difference in external genitalia: urethral groove shorter in female
Urethral folds develop lateral to central groove

Size
(mm)

Age
(weeks)*
Differentiation of gonad into testis in male

15

5
Ureter opens separately from wolffian duct into urogenital sinus
Cloaca subdividing; urorectal septum completed

16

6
Phallus forming from genital tubercle
Secondary bifurcation of ureteric bud

18
Urethral membrane (and cloacal membrane) perforate
Gonad recognizable as ovary; cortex forming
20

7
Labioscrotal folds developed (lateral genital swellings)

23

8
Coronary sulcus of phallus appears

25
Female phallus shows caudal curvature
30

Interstitial cells recognizable

Mllerian ducts reach urogenital sinus

32

9
Mllerian tubercle formed

42

Lower mllerian ducts fused

Wolffian ducts begin to regress in female

45

10
Coronary sulcus of phallus forms groove (easily recognized)
Posterior commissure formed

50

Great increase of Leydig cells from mesenchyme

Prostatic buds first appear in male
Sex differences in external genitals first noticeable

56

11

Uterovaginal canal formed, fusion of mllerian ducts with sinovaginal

bulbs
Wolffian ducts begin to disappear

65

Longitudinal folds in urogenital sinus

Sinovaginal bulbs formed, obliterate mllerian tubercle

70

12

Beginning solidification of uterovaginal canal by proliferation of both

Size
(mm)

Age
(weeks)*
mllerian and sinovaginal epithelium

94

Sinus upgrowth along vaginal plate

Wolffian ducts have disappeared by this stage

100

16
External genitalia of male fully formed

125

Fetal ovarian stroma differentiates

Primordial follicles in central part of ovary

150

Vagina canalizes from urogenital sinus forward

Maximum development of Leydig cells

175

20

Beginning shrinkage and degeneration of Leydig cells

180

Vagina fully canalized; glycogenated epithelium

187

Seminiferous tubules coiled; lumina

200

24

240

7 months
(early)

Testes descend into scrotum

250

28

During cortical differentiation, medullary cords crowded centrally;

some medullary tubules provided with germ cells persist in hilum

286

32

Reduction in Leydig cells (male)

Disappearance of medullary cords in ovary (female)

Except as otherwise noted.

From Dougherty CM, Spencer R: Female Sex Anomalies. Hagerstown, MD: Harper & Row, 1972.
The cumbersome terms mesonephric (wolffian) and paramesonephric (mllerian) have always
been difficult to keep clearly differentiated. Mesonephric means middle-kidney (pronephric
elements are not a factor in human development). The eponym mllerian duct is deeply ingrained
in the literature as relating to uterus, tubes, and vagina, while the term paramesonephric, meaning
"alongside the middle kidney system" is less difficult to remember. The concept of the
paramesonephric (mllerian) duct system as a double-barreled organ (suggesting a shotgun) is useful
in understanding developmental anomalies, since various growth arrests and failures of development
at this stage explain many of the anomalies encountered.
UTERINE ANOMALIES
The most frequent uterine anomalies (Fig. 3) are those resulting from varying degrees of failure of
fusion of the mllerian ducts. This variability makes classification difficult and determination of the

true incidence uncertain. Many of these malformations are detected by radiologic or sonographic
studies. Estimates of incidence vary from 0.13% to 4.0%. The incidence of mllerian anomalies in
patients with infertility has been reported to be as high as 6.3%.20 Pregnancy occurs in many women
despite these anomalies. The complication rates with pregnancy are considerably increased;
complications include abortion, prematurity, postpartum hemorrhage, retained placenta, and
breech presentation.21Not surprisingly, the rate of cesarean delivery is markedly higher.
Fig. 3. Uterine anomalies. A. Uterus duplex unicollis. B. Uterus
duplex with double vagina. C.Uterus didelphys. D. Uterus septus
with single vagina. E. Uterus subseptus. F. Uterus
arcuatus. G. Uterus unicornis with rudimentary contralateral
hemiuterus.

Uterus duplex, or the bicornuate uterus, is the most frequent uterine anomaly. The unicollis type in
which there is a single cervix with a septum that does not reach the cervix is the most frequent type,
occurring in over one third of all patients with uterine anomalies.
Uterus duplex bicollis, in which two cervices are present, is less frequent. Obstetric complications are
frequent, but live births do occur.
Uterus didelphys, with completely separate uterine cavities, is also frequent. The cervices are
externally united and the uterine fundi are externally separate. In most patients the vagina is
septate, causing a double vagina. The halves of such a uterus are often of different sizes. If there is an
asymmetric vaginal septum which occludes one vagina, mucocolpos or hematocolpos may result.
Communicating uteri, involving an incomplete uterine septum with part of the fetus in each uterine
cavity, occasionally occur.
Uterus septus is an essentially normal uterus with a septum reaching to the cervix.
Uterus subseptus involves a partial septum that does not reach the cervix. Twins apparently occur
approximately three times more often in women with this condition than in women with normal
uteri; the cause is not clear.
Uterus arcuatus is a normal uterus without a septum. The fundus, however, is notched or flattened.
There is usually no interference with normal pregnancy.
Uterus unicornis is a uterus with a single horn. A normal vagina and a single normal tube are usually
present. The other half of the uterus is usually absent or rudimentary. In most patients the kidney is
missing on the side of the missing uterus. Successful pregnancy can occur.

Separate hemiuteri with separate vaginas is a rare condition that is usually associated with
duplications of urethra and bladder or of the colon and anus. Pregnancy in each of the two hemiuteri
in the same woman at different times has been reported.
These anomalies result from failure of fusion of the paired mllerian ducts, but in some instances
there is a true duplication of the ducts on one or both sides. Such duplications result from splitting of
the mllerian duct during the seventh week of development. Accessory tubes or ovaries may be
present.
Semmens22 extensively reviewed the literature on genital tract anomalies and evaluated 56 personal
patients as well as 500 cases from the literature. He employed a simplified classification, based
entirely on the functional capacity of the uterine cavity, which divided genital tract anomalies into
two groups: group Ihemiuterus of single mllerian origin, paired or otherwise, and group IIuterus
of dual mllerian origin, associated with varying degrees of absorption. He concluded that if the
entire functional component has been derived from a single mllerian duct and its vaginal outlet is a
cervical canal of similar origin its capacity is smaller than that of the uterus resulting from fusion of
bilateral ducts.
By contrast, if the uterus is derived from two mllerian ducts, its capacity is larger. Semmens
concluded that the space available for the developing fetus as well as the variations in uterine
circulation had a direct effect on the length of gestation, onset and behavior of labor, and overall
fetal salvage. The diagnosis of uterine anomalies during pregnancy is always difficult. The most
important factor is awareness of their existence and frequency and of the problems that frequently
develop. Findings such as a floating head at term without apparent cause, notching and broadening
of the uterine fundus, abnormal lie, recurrent breech presentations, prolonged third stage of labor,
and trapped or retained placenta indicate the possibility of an anomaly. In abnormal uteri, triangular
spasm and cornual pocketing of the placenta may occur and necessitate manual removal of the
placenta. The administration of oxytocin under these circumstances usually increases the degree of
pocketing in an abnormal uterus. Among antepartum patients, pyelitis (often associated with a
urologic anomaly), passage of a decidual cast, hemorrhage, and premature rupture of the
membranes are the most common complications. Intrapartum complications include septal dystocia,
incarcerated nongravid horn, uterine inertia, and retained placenta. Fetal dystocia is considerably
increased. Postpartum complications are few and include hemorrhage, retained placenta, and failure
of uterine involution. Most complications of uterine anomalies in the pregnant woman can be
anticipated and MANAGED successfully if the clinician is alert to the possibility of anomalies and if
the nature of the anomaly is known. The finding of an asymmetrically located cervix in the vaginal
fornix, an excessively large cervix whether or not a septum is present, or a duplicated cervix suggests
uterine abnormality. Abnormal configurations of the fundus of the uterus in the third trimester
should suggest abnormalities to the clinician, as should abnormal presentations and failure of the
presenting part to engage without apparent reason. An obstetric history of successive abortions,
recurrent breech presentations, or recurrent pyelitis should alert the obstetrician to the possibility of
anomalies and, in nonpregnant women, to the need for hysterosalpingogram, saline sonography,
magnetic resonance imaging, and renal imaging.
RUDIMENTARY HORN PREGNANCY
O'Leary and O'Leary23 reviewed and analyzed 240 published cases of pregnancies that occurred in a
rudimentary uterine horn. They found that 89% ruptured and 61% of these ruptured in the second
trimester. Fetal death occurred in 98% of cases. There have been a handful of case reports describing
fetal survival after rupture of a rudimentary horn24, 25, 26 and a handful of cases describing delivery of
a term fetus in an unruptured horn.27, 28 Since most rudimentary uterine horns are thicker than the

fallopian tube, rupture tends to occur later than in tubal ectopic pregnancy and precipitates more
severe concealed hemorrhage. Expectant MANAGEMENT is not an option for a pregnancy in a
rudimentary horn.
With the advent of better imaging studies, it should become more common practice to detect
pregnancies in the rudimentary horn earlier in pregnancy. In 2005, Jayasinghe et al published a
review of 336 rudimentary horn presentations (210 gynecologic and 156
obstetric).29Noncommunicating horns accounted for 92% of cases (95% confidence interval 88
95%, p <0.001). Diagnosis before clinical symptoms occurred in only 14% (95% confidence interval 7
23%). The majority of functional noncommunicating horns presented with acute obstetric uterine
rupture. If a non-communicating horn is identified pre-conception, surgical removal before
pregnancy is recommended. Removal of the rudimentary horn can be accomplished via
laparoscopy.30, 31 Sadly, rates of diagnosis prior to catastrophic rupture remain disappointingly low.
In addition to the morbidity associated with uterine rupture, abnormal placentation is commonly
encountered in these pregnancies and adds further complication. Many rudimentary horn
pregnancies have an associated placenta accreta or placenta percreta.32, 33, 34 The obstetrician caring
for the patient with a rudimentary horn pregnancy must be alerted to this and the operating room
team must be prepared during delivery should life threatening hemorrhage occur.
TUBAL ANOMALIES
The fallopian tubes are formed from the most cephalic portions of the mllerian ducts. Late in the
sixth week (crown rump length, 11 mm), a shallow depression can be observed near the
mesonephric duct. Commencing as a groove, a tube forms, a lumen develops, and the
paramesonephric ducts grow caudad, lying lateral to the wolffian ducts. The ostia at the cephalic
ends remain open. Anomalies of the oviducts are not prominent and frequently pass unnoticed.
Absence of one or both tubes may occur and is almost always associated with absence of the uterus
as well as with other anomalies. Localized factors may result in an incomplete tube. Rudimentary
tubes occur as fibromuscular cords without lumens. If the tube is a long, thin hypoplastic structure
and responds to appropriate endocrine therapy, it is classified as infantile. Occasionally, ostia are
duplicated or an accessory tube may be present. Most anomalies as such do not require treatment.
Acquired defects of the midportion of the fallopian tube can also occur. In 2007, Grover reported a
case of torsion of a paratubal cyst that interrupted the ampullary portion of the fallopian tube.35 Had
this interruption not been diagnosed at the time of emergency surgery for torsion, it may have later
been mistaken for a congenital anomaly. Prior to the advent of assisted reproductive technology
(ART), reproductive options for women with congenital anomalies of the fallopian tubes were
limited. ART can bypass the fallopian tubes and enable women without fallopian tubes to achieve
pregnancy.
OVARIAN ANOMALIES
The sex of each human is determined at the time of union of spermatozoon and ovum, but no
morphologic sex differentiation in the ovaries can be demonstrated until the seventh week. The
primordial germ cells are first found at the 24th day near the allantois. The germ cells proliferate and
migrate to reach the genital ridge, which by the fifth week, becomes elevated and thickened. Sex
differentiation becomes visible early in the eighth week. Proliferation of oogonia (germ cells) by
mitosis continues until approximately the 15th week. By the fourth month primary follicles appear. In
the meantime, the ovary has become recognizable as a discrete organ which descends to the level
of the pelvic brim and undergoes lateral rotation.

Ovarian anomalies other than the streak ovaries of gonadal dysgenesis are quite rare. Complete
absence of an ovary is extremely rare and is usually associated with renal agenesis and absence of
the ipsilateral fallopian tube. True ovarian duplication is rarely reported; it occurs in conjunction with
duplication of genital ridge and a duplicated mllerian duct. Excess ovarian tissue near the normal
ovarian tissue which has developed from it (and may be connected with it) is classified as an
accessory ovary. Lobulation of an ovary is not infrequent and is of little clinical importance.
Supernumerary ovaries or the presence of ovarian tissue not connected to the tubes or uterus is very
unusual.
Gonadal dysgenesis generally refers to a condition where gonadal development is abnormal, often
only presenting streaks of connective tissuethat are often called "streak gonads". Streak ovaries
extend from the lateral pelvic wall to the attachment of the utero-ovarian ligaments. They vary
considerably in size but are usually approximately 4 cm in length and 23 mm in width. Dysgenetic
ovaries are characterized by absence of follicular structures and oocytes. In women, the most
common cause of gonadal dysgenesis is Turner syndrome, 45X. Phenotypic females with streak
gonads can also have XX gonadal dysgenesis, XY gonadal dysgenesis or mixed gonadal dysgenesis.
In phenotypic females with a Y chromosome, there is a high risk of the development of a
gonadoblastoma and removal of the gonads is usually indicated.36
MESONEPHRIC REMNANTS OR VESTIGES
At 28 days after fertilization, when the embryo is 4 mm long, the mesonephros and the mesonephric
duct have begun to differentiate. By 49 days post-fertilization (20 mm) the mesonephric duct system
has begun to degenerate. Degeneration is never complete, however, and a number of structures may
persist to various degrees in the normal adult female (Fig. 4). Such structures include the following:
Fig. 4. Mesonephric vestiges. (After Cullen.)

1. Hydatid of Morgagni (probably of mllerian origin)

2. "Vesicular appendage"

3. Epoophoron (organ of Rosenmfiller)

4. Paroophoron (Kobeit's tubules)

5. Gartner's duct or canal (ductus epoophori longitudinalis)

The broad ligament contains a number of important structures. In addition to the normal tubes,
ovaries, uterine and ovarian blood vessels, and the round ligaments, vestiges of the mesonephric
duct system are usually present to varying degrees. The regressing mesonephric or wolffian duct
system begins near the tubal ostium and runs parallel to the tube in the broad ligament, entering the
wall of the uterus near the level of the internal os. It continues in the cervical and vaginal walls until
it ends at or near the introitus. These vestiges are variable with respect to place and size.
Occasionally, a small structure called the appendix vesiculosa (sessile hydatid) may be encountered
below the tubal ostium at the edge of the broad ligament at the distal end of the mesonephric duct
and is believed to represent its blind end.
In the lateral third of the mesovarium lies the epoophoron, consisting of eight to 13 tubules running
from the mesonephric duct toward the ovary. These convoluted tubules are lined with a low cuboidal
epithelium, but no secretory activity has been noted in them. They are of little clinical significance,
although benign cysts are believed to occasionally arise in them.
Farther caudad along the regressing mesonephtic duct may be found a small group of mesonephric
tubules called the paroophoron. They are usually found only in infants and are clinically
unimportant.
Farther along the course of the vestiges of the mesonephric duct can be found remnants of the duct,
here called Gartner's duct (ductus epoophori longitudinalis). Coiled tubes frequently occur in the
lower part of the supravaginal cervical wall, where they are called the ampulla. In some cases,
cystic remnants may occur in the vaginal walls, where their unsuspected presence may cause
diagnostic confusion. In rare cases, Gartner's duct may form an ectopic ureter as a result of having
maintained its ureteral connection. Although believed to be paramesonephric rather than
mesonephric in origin, clear pedunculated hydatid or cystic structures arising at the ostium at the
end of the tube are found frequently. These are called the hydatids of Morgagni (appendix
vesiculosa) and are usually harmless but are removed when encountered since they can undergo
torsion with or without gangrene and have been misdiagnosed as dysmenorrhea, appendicitis, and
ectopic pregnancy.
UMBILICAL ANOMALIES
The umbilicus may contain vestiges of either the yolk sac or the allantoic stalk. Normally these
structures have almost disappeared by birth.
Persistent yolk stalk (vitelline or omphalomesenteric duct) anomalies include Meckel's diverticulum
(of which over one fifth are attached to the abdominal wall), omphaloileal fistula (characterized by a
patent tube connecting umbilicus and ileum), remnants of umbilical mucosa (forming an umbilical
polyp or sinus), remnants of vitelline blood vessels (a solid cord from ileum to umbilicus), and various
cystic remains of the vitelline duct in the abdominal cavity or body wall. Prolapse of the vitelline duct
or of the ileum through the umbilicus carries with it a high mortality. It is frequently associated with
intestinal obstruction and is a complication which requires early diagnosis and prompt, skillful
surgery.
The allantoic remnant, the urachus, is normally a fibrous cord from the anterior abdominal wall to
the apex of the bladder. A number of anomalies can result if the urachus does not undergo complete

regression. The urachus may be patent its entire length so that urine leaks from the umbilicus.
Patency of the distal portion of the urachus may result in a urachal sinus at the umbilicus, with
persistent discharge. However, if the proximal portion is patent, a urachal diverticulum of the
bladder will be present. In some patients both ends may be closed, resulting in a urachal cyst.
Infections, abscesses, stone formation, and carcinoma occur as complications of these urachal
remnants.
VAGINAL ANOMALIES
As the paramesonephric (mllerian) ducts grow caudad, they reach the urogenital sinus by
approximately the ninth week (32 mm) and fuse with it to form an elevation known as the mllerian
tubercle, with the openings of the paramesonephric ducts on either side of it. A ribbon of epithelium
replaces the uterovaginal canal and is the precursor of the vagina. The vagina is formed between the
16th and 20th weeks by the development of lacunas; complete canalization later occurs to form the
vaginal lumen (Fig. 5).
Fig. 5. A. Mllerian and wolffian
ducts. B. Fusion of mllerian
ducts. C. Regression of mesonephric
ducts. D. Uterus, cervix, and vagina.

The principal congenital anomalies of the vagina include the following:

Longitudinal septum (32)
Transverse septum (15)
Vaginal agenesis (11)
Mesonephric remnants (15)
The numbers represent the relative frequencies of these conditions, as described by Dougherty and
Spencer.37
Longitudinal septums produce the double vagina which is always startling and suggests the
appearance of a double-barreled shotgun. Such septums may be complete or incomplete. They are
frequently associated with uterus didelphys, but all combinations have been encountered, including
the presence of a normal uterus and cervix. Sometimes one cervix may be blocked off, with retention
of mucus or blood. Because the external genitalia usually appear normal, such septums are
frequently not diagnosed unless painful coitus or labor dystocia occurs. Simple incision with
appropriate ligation of bleeding points is usually all that is required. Fistula formation or vaginal
stenosis may result from incautious or extensive surgery. Longitudinal septums occur approximately

twice as frequently as transverse septums. Transverse septums vary from complete occlusion to a
mild constriction. Frequently, there is a small opening allowing secretions or blood to drain. Unlike
the bulging membrane associated with imperforate hymen, there is no external sign of the blockage.
In nearly all patients, the internal organs are normal and pregnancy is not infrequent. Such
transverse septums are believed to represent failure of complete canalization of the vaginal
epithelial mass. The stenosis may be caused by a constricting fibromuscular bond. If menstruation
and coitus occur without trouble, the condition may not be detected until pelvic examination reveals
its presence.
The symptoms depend on the presence of adequate uterine drainage. If there is complete vaginal
atresia, a mass may develop in the lower abdomen, due to hematometrocolpos (Fig. 6). Pelvic
abscesses may develop in such entrapped blood. Vaginal septums may cause dystocia and make
cesarean section the safest method of delivery. Treatment depends on the degree of stenosis and
the rigidity of the constricting band. No treatment may be required, or two or three longitudinal
incisions may suffice. Attempts at complete excision of an annular segment of vaginal wall may result
in postoperative scarring or fistula formation.
Fig. 6. Diagram of various lesions causing hydrometrocolpos. A. Imperforate
hymen. B. Transverse septum. C and D. Low and high atresia of vagina. (From
Spencer R, Levy DM: Hydrometrocolpos: Report of three cases and review of
the literature. Ann Surg 155: 558, 1962.)

Agenesis of the vagina may only be detected on pelvic examination for amenorrhea. Absence of a
vagina is always associated with absence of a hymen. Since agenesis of the vagina is usually
misdiagnosed as imperforate hymen, this is of diagnostic importance. In nearly every case of vaginal
agenesis there is an absent or very rudimentary uterus; ovarian agenesis may be present. Nearly all
patients without a vagina have associated anomalies of the urinary tract, including renal agenesis,
ectopic pelvic kidney, and ureteral anomalies. The mechanism of these vaginal anomalies is not
entirely clear; they may result from failure of development of the epithelial vaginal mass or from
failure of development of the urogenital sinus. The treatment of vaginal agenesis and the formation
of an artificial vagina is described by Capraro.38 Operative results are usually excellent if molds are
worn regularly or if there is regular coitus.
A congenital imperforate hymen is a result of failure of completion of the canalization or cavitation of
the epithelial plug that fills the vagina. The condition is usually discovered at puberty, when the
patient develops a lower abdominal mass, abdominal pain, and a bulging vaginal mass full of mucus
or blood.39 This procedure should be performed using sterile technique in the operating room; after
careful catheterization, a cruciate incision followed by excision of the four wedge-shaped tabs of
hymen corrects the condition. Prophylactic antibiotics should be given postoperatively. A related
condition is a microperforate hymen, in which no hymeneal opening can be found but in which a tiny
opening allows passage of menstrual blood.
ABNORMALITIES OF EXTERNAL GENITALIA
The hindgut (Fig. 7 and Fig. 8) plays an exceedingly important part in the development of the
infraumbilical abdominal wall, external genitalia, perineum, anus, and lower genitourinary tract. As
early as 13 days after conception, the hindgut becomes active, and its importance and differentiation

continue through the 12th week of gestation. A variety of malformations can occur, depending on
the age of the embryo and whether agenesis, embryonic fissure, embryonic arrest, or duplication
mechanisms are involved. The most damaging malformation is sympodia, or absence of the entire
hind end of the body. Such damage occurs early and results in destruction of portions of the lower
extremities, perineum, and cloaca. Absence of the perineum leaves no genital, urinary, or anal
orifices; lower urinary and mllerian tract derivatives are absent. Damage occurring later may result
in exstrophy of the cloaca and, later still, exstrophy of the bladder. Exstrophy of the bladder may be
incomplete or complete. Complete exstrophy is the most common type and is associated with wide
separation of the pelvic bones, complete epispadias, and protrusion of the entire posterior bladder
wall. The failure is that of midline fusion rather than absence of abdominal wall musculature.
Ureteral duplications, uterine and vaginal duplications, and imperforate anus are frequently
associated with exstrophy of the bladder. This occurs in approximately 1 of 40,000 births. Unless
adequately treated, ascending pyelonephritis results in early death. The results of surgery are usually
good, with fair life expectancy. A number of women have delivered living infants after operative
repair of the defect. Prolapse of the uterus usually follows vaginal delivery.
Fig. 7. Diagrammatic sections of human embryos of
approximately 2, 2, 4, and 5 weeks. Area of interest is
circled. A, allantois; C, cloacal membrane. Ectoderm is
shown by heavy black line; endoderm by beaded line;
mesoderm by stippled area. (From Spencer R: Exstrophia
splanchnia [exstrophy of the cloaca]. Surgery 57: 751, 1965.)

Fig. 8. Hindgut, cloaca, and allantois (After Moore KL: Developing

Human. Philadelphia: Saunders, 1973.)

UROGENITAL SYSTEM
The early development of the paramesonephric and mesonephric duct systems has been described.
As the paramesonephric (mllerian) duct develops, a solid wedge appears between the epithelial
layer and the mesonephric ducts. A lumen develops and then the paramesonephric ducts become
separate from the mesonephric ducts. The fused tips of the paramesonephric ducts grow caudad and
reach the urogenital sinus. As the general elongation of the area develops, a solid epithelial cord is

drawn out between the tubular portion of the paramesonephric duct and the mllerian tubercle on
the wall of the urogenital sinus. This solid mass of cells constitutes the primordium of the solid
vaginal cord. As development progresses, lacunas form in the center of this epithelial cord and the
vagina becomes a hollow organ by the seventh month of fetal life. Although there is some
controversy, it is generally accepted that the upper two thirds of the primitive vaginal plate is of
paramesonephric origin, while the lower third is derived from the urogenital sinus. The hymen is
formed as a partial septum at the level of the junction of the primitive urogenital sinus and the
vagina. The caudal portion of the celomic cavity develops as the hindgut and becomes the cloaca,
continuous with the yolk sac. The cloaca divides into a dorsally placed rectum and a ventrally placed
urogenital sinus.
The mesonephric ducts connect with the urogenital sinus, but by the fifth week of fetal life the
ureteric buds have appeared on either side of the mllerian tubercle and the metanephrogenic mass
of cells (the future kidney) appears. At this time the primordial germ cells are migrating from the
hindgut to form the primitive gonads along the urogenital ridge. The kidneys develop in the pelvis,
beginning as a metanephrogenic mass of intermediate mesoderm around the ureteric bud. As the
kidneys develop they migrate toward the head of the embryo, chiefly as a result of the growth of the
embryo caudal to the kidneys. The kidneys are supplied by arteries and veins at successively higher
levels as they move cephalad from the pelvis. The ureters are elongating at the same time and the
kidneys rotate so that the hila come to face the midline. At the same time the mesonephric system is
undergoing degeneration (Fig. 9, Fig. 10, Fig. 11, Fig. 12, and Fig. 13).
Fig. 9. Composition of urogenital ridges. Embryo 6508, 363-3; 7.3 mm, 4 weeks.
Bilateral bulges from urogenital ridges (UGR) in dorsomedial wall of celomic cavity
on either side of mesentery (Mesen) of gut. UGR give rise to mesonephros, ovary,
and metanephros. Mesonephric (wolffian) vesicles (MV) and ducts (WD) are
completed, and gonadal anlages (G) are evident as masses of mesenchyme covered
by thickened celomic epithelium medial to mesonephric apparatus (M)
(30). (From Dougherty CM: Surgical Pathology of Gynecologic Disease. New York:
Harper & Row, 1968.)
Fig. 10. Partition of cloaca. Embryo 8789, 171-3; 11.7 mm, 5 weeks. Partition of
cloaca (C1) occurs when hindgut (HG) joins urogenital sinus (UGS), leaves space
for urorectal fold (URF) which eventually divides sinus, and separates ventral
compartment from rectum. Urogenital sinus is continuous with allantois, lower
part of which will form bladder (V). Cul-de-sac (Cul) of celomic cavity is seen as
slit between hindgut and urogenital sinus (15). (From Dougherty CM: Surgical
Pathology of Gynecologic Disease. New York: Harper & Row, 1968.)
Fig. 11. Mesonephric ducts join urogenital sinus. Embryo 8553, 952-1; 22 mm,
6 weeks. Cross-section near caudal end demonstrates junction of mesonephric
ducts (WD) with dorsal wall of urogenital sinus (UGS). Hindgut (HG) lies behind
this confluens and is separated by a caudal extension of celomic cavity, pouch of
Douglas (Cul). Mllerian ducts have not extended this far caudally yet
(15). (From Dougherty CM: Surgical Pathology of Gynecologic Disease. New
York: Harper & Row, 1968.)

Fig. 12. Mesonephric ducts join urogenital sinus. Embryo 5422, 321; 27 mm,
6 weeks. Caudal region is depicted in this sagittal section just off midline and
shows mesonephric duct (WD) opening into urogenital sinus (UGS). This point
is used as arbitrary boundary mark between vesicourethral portion cephalad
and definitive urogenital sinus (pars pelvina) caudally. Rectum (R) has already
been partitioned by urorectal fold (URF) extending to cloacal membrane, and
proctodeum (Pr) has opened. Caudal extension of celomic cavity forms cul-desac of Douglas (Cul). Transverse septum (TrS) of pelvis is seen in cross-section
(15).(From Dougherty CM: Surgical Pathology of Gynecologic Disease. New York: Harper & Row,
1968.)
Fig. 13. Mllerian ducts reach urogenital sinus. Embryo 6573, 743-2; 31.5 mm, 7
weeks. Mesonephric ducts (WD) open into urogenital sinus (UGS), while mllerian
ducts (MD) occupy medial position in this area and do not yet open into sinus.
Hindgut (HG) and pouch of Douglas (Cul) are behind urogenital sinus (45).(From
Dougherty CM: Surgical Pathology of Gynecologic Disease. New York: Harper &
Row, 1968.)

The relative frequencies of anomalies of the urogenital system, as described by Dougherty and
Spencer37 are listed in Table 2.
Table 2. Anomalies of the genitourinary system
Type

No.

Double ureter, branched, unilateral or bilateral 15

Hydronephrosis and/or hydroureter

10

Unilateral renal agenesis (all males)

Pelvic or unascended kidney

Horseshoe kidney

Bilateral cystic kidneys (both males)

Bilateral renal agenesis (both males)

Malrotation of kidney (all females)

Crossed renal ectopia

Urachal cyst

Bicornuate uterus (all types)

Unicornuate uterus

Clitoral hypertrophy

Fused labia

Type

No.

Absence of external genitalia (sirenomelia)

Imperforate urogenital sinus

Persistent urogenital sinus

Urethra atresia (male)

Renal hyperplasia

Penile chordee

From Dougherty CM, Spencer R: Female Sex Anomalies. Hagerstown, MD: Harper & Row, 1972, p. 52.
Because of the close association of mesonephric and paramesonephric ducts, urinary tract anomalies
are frequently associated with malformations of the external genitalia and vagina. It is extremely
important that thorough urologic studies be performed on all patients with mllerian anomalies.
Ectopic kidneys and ureters, particularly the solitary pelvic kidney, present a real hazard for the
gynecologic surgeon. Renal ectopia per se usually is not a problem, but if the kidney has failed to
ascend to the normal level, complications can arise. The short ureter and short blood vessels
preclude an attempt to "replace" the kidney at the normal level. The incidence of solitary kidneys is
approximately 1 in 22,000 patients. Associated anomalies of the reproductive tract are present in
nearly all women with a single kidney. Careful and thorough diagnosis is essential to avoid
complications. There are at least two recorded cases in which solitary kidneys have been removed.
Double ureters may come from a solitary kidney and do not prove that there are two kidneys.
CONGENITAL ADRENAL CORTICAL HYPERPLASIA
Congenital adrenal hyperplasia (CAH) is a fascinating developmental complication that is
characterized by masculinized external genitalia and the diagnosis is made by demonstrating excess
adrenal androgen production.40 The syndrome can appear in utero, or can be of late onset with
symptoms of hyperandrogenism presenting in adolescence or early adulthood.
The most common cause of CAH is a block in the production of
cortisol due to deficiency of the enzyme 21-hydroxylase (P450c21)
(Fig. 14).
Fig. 14. Biosynthetic pathway of steroid production.

21-hydroxylase deficiency is responsible for 95% of all cases of CAH and has the potential, if
undiagnosed, to be fatal. In the most severe form, production of both aldosterone and cortisol is
halted and salt-wasting and shock accompany significant virilization.41 Two 21-hydroxylase genes
have been identified, CYP21A and CYP21B. CYP21B is active in adrenal steroid production, while

CYP21A is not involved and is a pseudogene. Various mutations in CYP21B are responsible for 21hydroxylase deficiency and the severity of the disease is determined by the specific mutation within
the gene.
The onset of production of excess androgens begins to occur between the 60-mm and 80-mm stages
of fetal development. Due to the block in steroidogenesis at the level of 21-hydroxylase, the
precursors progesterone and 17-hydroxyprogesterone are unable to be converted to aldosterone
and cortisol, respectively. These precursors are then shunted to production of androstenedione and
testosterone. Excess androgensin utero masculinize the external genitalia of a female infant. The
degree of masculinization depends on the time of onset of the condition. Early in development, both
vagina and urethra open into a persistent urogenital sinus. Clitoromegaly is present in all patients.
Separate urethral and vaginal orifices may occur with only minimal labial fusion. A more advanced
degree of labial fusion results in a persistent urogenital sinus containing urethra and cervix but with
no urethra in the phallus. The greatest degree of masculinization presents a phallus with urethra and
no visible vaginal opening since the vagina has a hidden connection with the urethra.42 The physician
can easily miss the anomaly, thus endangering the infant. The gonads are, of course, undescended
ovaries. The associated disturbance of metabolic processes requires prompt diagnosis and
treatment, and demands immediate attention and neonatal treatment rather than surgery to correct
the anatomic appearance.
Of cases of congenital adrenal hyperplasia 58% are due to 11-hydroxylase deficiency rather than
21-hydroxylase deficiency. In this enzyme defect, 11-deoxycortisol is not converted to cortisol
and virilization will occur due to shunting of precursors into androgen biosynthesis, similar to that
seen in 21-hydroxylase deficiency. In addition, 11-deoxycorticosterone may not be converted to
corticosterone and to aldosterone, though the degree to which this block exists is variable.43
Prenatal diagnosis and in utero treatment of 21-hydroxylase deficiency and 11-hydroxylase
deficiency are possible and can prevent virilization of a female fetus. Prenatal treatment beginning at
45 weeks' gestation can be empirically begun with dexamethasone and continued until diagnosis
has been established or ruled out. Reduction in the degree of virilization or complete prevention
of virilization has been reported in affected fetuses.44
3-hydroxysteroid dehydrogenase deficiency leads to decreased synthesis of glucocorticoids,
mineralcorticoids, androgens, and estrogens. These neonates are severely ill and this enzyme
deficiency is fatal. Females may be slightly virilized and males may be incompletely masculinized.
Milder, late-onset cases that present with hyperandrogenemia have recently been described.45
Genetic females with excess androgen production are referred to as female pseudohermaphrodites
while genetic males lacking in androgens are referred to as male pseudohermaphrodites. True
hermaphrodites possess both testicular and ovarian tissue. Both types may be contained in one
gonad, ovotestes, or one side may be an ovary and the other side a testis. The internal structures
correlate to the adjacent gonad. External genitalia are ambiguous, but may be sufficiently developed
to have a male gender assignment. However, 75% develop gynecomastia and over 50% menstruate
at puberty, perhaps making female sex assignment easier.
ECTOPIC URETERS
The ureteric buds arise from the posterior portions of the mesonephric ducts and shortly meet the
mass of nephrogenic mesoderm. The ureter elongates, forming primary calyces. A bifurcation of the
growing ureter at this early stage produces two ureters and two renal pelves. Later divisions (in the
fifth week) may only result in bifid pelves. Accessory ureteric buds may result in ureteral triplications.

Duplicate ureters occur in approximately 1% of humans. Ectopic ureters may implant in a variety of
places and commonly cause incontinence in females. Such ectopic ureteral openings may occur on
the skin of the vulva, in the vagina, and the urethra, and, rarely, into the uterus or cervix. The
majority of ectopic ureteral orifices are associated with a ureter that drains the upper portion of a
double kidney and has complete duplication of the ureter. If the distal portion of a mesonephric duct
is present as Gartner's duct, an ectopic ureter usually will connect with it. Incontinence and infection
are the almost invariable complications of ectopic ureteral orifices outside the bladder in a female. In
children the usual misdiagnosis is enuresis. Careful urologic study involving excretory and retrograde
pyelograms and intravenous indigo carmine and intravesical methylene blue studies are often
necessary to fully evaluate the urologic problem. It should be remembered that multiple ureteral
orifices may be present and that finding a single ectopic ureter in no way excludes the presence of
others. If feasible and if the kidney is healthy, the operation of choice is transplantation of the
ectopic ureter into the bladder.
Persistence of the urogenital sinus with outlet obstruction is relatively uncommon. During the fifth
week the urorectal folds grow into the cloaca, dividing it into two portions. The dorsal portion
becomes the rectum and the ventral portion becomes the urogenital sinus. The cloacal membrane
ordinarily ruptures during the seventh week, allowing the urogenital sinus to drain externally and the
anus to become patent. Persistence of the cloacal membrane may result in urethral obstruction or
imperforate anus. Tank et al46 reported three such patients with complete anuria and a lower
abdominal mass. Hydronephrosis and hydroureter were present. A marked compression of the
vagina was present in all patients. Two of the patients also had imperforate anus. This series included
five cases of stenosis of the urogenital sinus, a much less serious condition. Persistent urogenital
sinus membrane constitutes a real surgical emergency because of the urologic tract damage and
mounting azotemia. Careful and methodical examination of the newborn should result in early
diagnosis and prompt surgery. In all cases, associated congenital anomalies can be expected.
Adrenogenital syndrome, imperforate anus, mixed gonadal dysgenesis, and renal agenesis are among
the reported complications.
The genitourinary anomalies may be evaluated by careful examination of the lower abdominal wall
for failures of closure, exstrophies of bladder and cloaca, and umbilical anomalies such as cysts,
leakage of urine, and patent urachus. A single umbilical artery is frequently associated with
genitourinary anomalies and chromosomal trisomies. In a male neonate, an erect voiding penis and
the palpation of descended testicles is a reassuring sign that the urogenital system is intact.
Imperforate anus can be ruled out with passage of a rectal thermometer or a No. 8 F catheter.
Passage of meconium is an important sign, though intestinal atresia may be present even if
meconium is encountered, though this is less likely. In females, careful inspection of the vaginal
introitus normally reveals whitish cervical secretion; the easy passage of a No. 8 F catheter excludes
imperforate hymen although it does not rule out longitudinal or transverse vaginal septums. The
complete differential diagnosis in infants with ambiguous genitalia is more extensive and involves
obtaining a karyotype, 17-ketosteroid determinations and, possibly, an MRI or laparotomy. In cases
of ambiguous genitalia, the diagnosis of congenital adrenal hyperplasia should be suspected as this
can potentially be a life-threatening disease and, when indicated, treatment must be promply
initiated.
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