Genital tract malformations

Numerous malformations of the genital tract have been described, some of little clinical significance and others of considerable importance. Although many attempts have been made to explain malformation in terms of variation of the normal development, it is doubtful if there is any merit in this since malformations are by definition abnormal, and many curious malformations may be seen, for which variations of the normal development do not offer a convincing explanation.

Mrkh Symptoms
Fig. 34.6 A later ovary (31 weeks) showing a well-formed primary follicle (top left) and a germ cell (centre right) which is not yet completely surrounded by granulosa cells.

Uterine anomalies

ABSENCE OF THE UTERUS

The uterus may be absent or of such rudimentary development as to be incapable of function of any kind. This condition is known as the Mayer-Rokitansky Kuster Hauser syndrome (MRKH). This type of anomaly is usually found when the vagina is absent also, the presenting symptom being one of primary amenorrhoea. These patients

Heart Shaped Uterus
Fig. 34.7 Numerous primary follicles and one showing early development in the ovary of a child stillborn at 38 weeks.
Malformation Genital
Fig. 34.8 Ovary from a child stillborn at 41 weeks showing a mature Graafian follicle, and a cystic follicle. Courtesy of the Journal of Pathology and Bacteriology.

with pregnancy or not. The lesser degrees of fusion defects are quite common, the cornual parts of the uterus remaining separate, giving the organ a heart-shaped appearance known as the bicornuate uterus. There is no evidence that such minor degrees of fusion defects give rise to clinical signs or symptoms. The presence of a septum extending over some or all of the uterine cavity, however, is likely to give rise to clinical features. Such a septate or subseptate uterus may be of normal external appearance or of bicornuate outline. Clinically, it may present with recurrent spontaneous abortion or malpresentation. Apersistent transverse lie of the fetus in late pregnancy may suggest a uterine anomaly since the fetus tends to lie with its head in one cornu and the breech in the other.

In more extreme forms of failure of fusion the clinical features may be less, rather than more, marked. Two almost separate uterine cavities with one cervix are probably less likely to be associated with abnormalities than are the lesser degrees of fusion defect. Complete duplication of the uterus and cervix (uterus didelphys), if associated with a clinical problem, may prevent descent of the head in late pregnancy, or obstruct labour by the non-pregnant horn.

Rudimentary development of one horn may give rise to a very serious situation if a pregnancy is implanted there. Rupture of the horn with profound bleeding may occur as the pregnancy increases in size. The clinical picture will resemble that of a ruptured ectopic pregnancy with the difference that the amenorrhoea will probably be measured in months rather than weeks, and shock may be profound. A poorly developed or rudimentary horn may give rise to dysmenorrhoea and pelvic pain if there is any obstruction to communication between the horn and the main uterine cavity or the vagina. Surgical removal of this rudimentary horn is then indicated.

have a 46XX chromosome complement and normal ovarian function. However, cases of absence of the uterus with development of the lower part of the vagina ending blindly and an absence or scanty appearance of pubic hair must raise the suspicion of androgen insensitivity. Unfortunately, no treatment is currently possible for such uterine abnormalities and in those cases where the diagnosis is androgen insensitivity removal of any testicular tissue must be undertaken to avert long-term risk of malignant change. However, whether the patient is XY or XX careful attention to psychological aspects of management is an extremely important facet of care.

FUSION ANOMALIES

Fusion anomalies of various kinds are not uncommon (Fig. 34.9) and may present clinically either in association

Vaginal anomalies

ABSENCE OF THE VAGINA

Absence of the vagina is generally associated with absence of the uterus or a rudimentary uterus. This is known as MRKH syndrome. Rarely the uterus may be present and the vagina, or a large part of it, absent. In the more common circumstances of absence of both vagina and uterus the patient will probably present between age 12 and 16 years with primary amenorrhoea. Secondary sexual characteristics will be present as the ovaries are normally developed and functional. This combination of normal secondary sexual development and primary amenorrhoea suggests an anatomical cause, such as an imperfect or absent vagina, for the failure to menstruate. Inspection of the vulva and abdominal examination will be required

Absent Vagina Partial Septate Uterus

Fig. 34.9 Various fusion abnormalities of the uterus and vagina. (a) Normal appearance; (b) arcuate fundus with little effect on the shape of the cavity; (c) bicornuate uterus; (d) subseptate uterus with normal outline; (e) rudimentary horn; (f) uterus didelphys; (g) normal uterus with partial vaginal septum.

Fig. 34.9 Various fusion abnormalities of the uterus and vagina. (a) Normal appearance; (b) arcuate fundus with little effect on the shape of the cavity; (c) bicornuate uterus; (d) subseptate uterus with normal outline; (e) rudimentary horn; (f) uterus didelphys; (g) normal uterus with partial vaginal septum.

to exclude the presence of any retained blood in the upper part of the genital tract and will delineate the abnormality. Vulval development is normal, as may be seen in Fig. 34.10. The presumptive diagnosis of absent vagina can generally be made without difficulty at first examination. A very short vagina arising from androgen insensitivity may be mistaken for simple absence; so in every case of apparent vaginal absence a karyotype should be performed and if chromosome analysis confirms an XY sex chromosome complement the case should be managed appropriately.

All patients with abnormalities of the lower genital tract should have the renal tract investigated. Some 40% of patients with lower genital tract abnormalities will be found to have renal abnormalities, 15% of whom have an absent kidney. All patients should have a renal ultrasound performed to determine whether there is absence of a kidney and if more detailed analysis of the urinary tract is required this may be performed by intravenous urography. It is extremely rare for laparoscopy to be required to determine the abnormality and great care must be taken when performing a laparoscopy in case a pelvic kidney should exist because this may be injured with the trocar or laparoscope at the time of entry. Once the diagnosis is certain management may be divided into two sections, the first devoted to psychological counselling and the second aspect which involves the creation of a new vagina. Occasionally, patients present having already attempted intercourse and it may be that the sexual act is entirely enjoyable at the time of presentation, such that no further

Absence Vagina
Fig. 34.10 Vulval appearances in a case of absence of the vagina.

therapy is required. It is very important to assess these couples or the patients themselves with great care so that appropriate therapy is applied at the correct time and it is not mandatory that all patients should have vaginas created. Circumstances determine whether or not this is a wise procedure.

COUNSELLING

The psychological problems that these patients manifest are generally devastating and profound. The reaction by both the patients and the parents varies considerably with the age of the girl, but they are generally frightened and confused and they express feelings of rejection and 'feeling like freaks'. They feel isolated and lonely and that nobody could possibly understand their feelings. They have concerns about sexual activity and fertility and also manifest great difficulty in maintaining heterosexual relationships. Most mothers of these children express great guilt and worry that they have been the perpetrator of this abnormality through some fault in pregnancy and great pressure may be put upon the gynaecologist to correct the problem in order to return the girl to normal. It is extremely dangerous and fraught with failure if an attempt at treatment is made before the patient is ready. In general these patients, if under the age of 17 years, do less well. Management requires an integrated health-care team and patients require continuing support and encouragement if they are to achieve the aims necessary. Support groups are invaluable and should be encouraged.

DIRECT THERAPY

The management of these cases is usually by non-surgical methods initially and then if necessary a surgical approach [6]. The technique of non-surgical treatment of the absent vagina was pioneered by Frank [7] and a review by Broad-bent and Woolf [8] suggests a success rate of 90% with appropriate patient selection. The largest series reported in the world is of 242 patients with an 85% success [6]. The principle of the method is that the region which the vagina should occupy is a potential space filled with comparatively loose connective tissue which is capable of considerable indentation. The patient is instructed to use graduated glass dilators (Fig. 34.11) which are placed against the introitus and the blind vagina and gentle pressure is exerted in a posterior direction for approximately 10-20 min twice a day. Gradually the dilators will go further and further into the space and the dilators may be then increased in size and length until a 'neovagina' is created. In general, it takes between 8 and 10 weeks of repeated use of vaginal dilators to achieve a satisfactory result. The sexual satisfaction associated with this non-surgical procedure far exceeds that of the operative vaginoplasty [9].

In those patients who fail the non-surgical technique a vaginoplasty will need to be performed. A number of techniques have been used to create a vagina artificially, the most widely used being that of Mclndoe and Read [10]. In this procedure a cavity is created between the bladder

Malformation Genital
Fig. 34.11 Graduated glass dilators.

and bowel at the site where the natural vagina would have been, and this cavity is then lined by a split-thickness skin graft taken from the thigh and applied to the space on a plastic mould. The anatomical result can be very successful and remarkably good sexually. A review of 1311 reported cases gave a success rate of 92% [6]. However, there are a number of difficulties and disadvantages of this technique, not least the post-operative period, which is painful and sometimes protracted. The graft does not always take well and granulation may form over part of the cavity giving rise to discharge. Pressure necrosis between the mould and the urethra, bladder or rectum may lead to fistula formation, but the most important disadvantage is the tendency for the vagina to contract unless a dilator is worn or the vagina is used for intercourse regularly. It is therefore ideal to perform this procedure when sexual intercourse is desired soon afterwards because the procedure will fail if the patient does not maintain the vagina with the use of dilators. A further disadvantage of the use of split-thickness skin grafts is that the graft donor site remains as visible evidence of the vaginal problem and most women prefer not to have any external scarring.

In order to avoid the scar of the split-thickness skin graft, amnion has been used to line the neovagina and the results have been equally successful [11]. A recent review of our own series of well over 100 cases of amnion vagino-plasty have shown success rates of 85% satisfactory sexual activity following surgery [12].

The operation of vulvovaginoplasty pioneered by Williams [13] has some advantages as the procedure is simple, quick and relatively comfortable for the patient. The principle of the technique is the apposition of the labia majora in front of the neovagina to create a pouch into which the penis may be placed and sexual intercourse

Constructed Vagina
Fig. 34.12 A vagina constructed by the Williams vulvovaginoplasty method.

achieved (Fig. 34.12). The disadvantages of this technique are the unusual angle of the vagina, although this may lead to maximum clitoral stimulation at intercourse, and more importantly the destruction of the normal anatomy in a patient who previously had normal external genitalia. The psychological alteration in the external appearance of the vulva may be disturbing to some patients who find establishing relationships difficult in view of the abnormal anatomy.

A number of other techniques have been used to create a neovagina including the use of bowel and skin flaps. A procedure known as Vecchietti's operation has been popular in Europe for many years and this involves the use of a small olive which is placed in the dimple of the absent vagina. Laparoscopically wires can be brought out through the abdominal wall and then pressure exerted through a spring device, thereby creating a neovagina in a way that mimics the technique of Frank. It does, however, not rely on the woman herself using the dilators and after 7-9 days the olive is removed and the stretched vaginal skin is further dilated with glass dilators. Again, a recent review of the surgical techniques revealed success rates of approximately 90% [6].

Imperforate Hymen
Fig. 34.13 An imperforate membrane occluding the vaginal introitus in a case of haematocolpos. Note the hymen clearly visible immediately distal to the membrane.

HAEMATOCOLPOS

An imperforate membrane may exist at the lower end of the vagina, which is loosely referred to as the imperforate hymen, although the hymen can usually be distinguished separately (Fig. 34.13). These abnormalities of vertical fusion are seldom recognized clinically until puberty when retention of menstrual flow gives rise to the clinical features of haematocolpos, although rarely they may present in the newborn as a hydrocolpos. The features of haematocolpos are predominantly abdominal pain, primary amenorrhoea and occasionally interference with micturition. The patient is usually 14-15 years old, but may be older, and a clear history may be given of regular cyclical lower abdominal pain for several months previously. The patient may also present as an acute emergency if urinary obstruction develops. Examination reveals a lower abdominal swelling, and per rectum a large bulging mass in the vagina maybe appreciated (Fig. 34.14). Vulval inspection may reveal the imperforate membrane which may or may not be bluish in colour depending upon its thickness. Diagnosis may be more difficult if the vagina is imperforate over some distance in its lower part or if there is obstruction in one-half of a septate vagina.

Treatment may be relatively simple or rather complex. If the membrane is thin, then a simple excision of the membrane and release of the retained blood resolve the

Distended bladder

Bulging membrane

Distended bladder

Bulging membrane

Haematocolpos
Haematocolpos Anus

Haematocolpos

Bladder

Haematocolpos

Bladder

Malformation Nitale

Anus

Fig. 34.14 (a) Diagrammatic view of haematocolpos. Note how the blood collecting in the vagina presses against the urethra and bladder base, ultimately causing retention of urine. (b) Haematocolpos associated with absence of the lower portion of the vagina. Note that the retained blood is now above the bladder base and retention of urine is unlikely.

Anus

Fig. 34.14 (a) Diagrammatic view of haematocolpos. Note how the blood collecting in the vagina presses against the urethra and bladder base, ultimately causing retention of urine. (b) Haematocolpos associated with absence of the lower portion of the vagina. Note that the retained blood is now above the bladder base and retention of urine is unlikely.

and management are less straightforward and the ultimate interference with fertility is greater. Resection of the absent segment and reconstruction of the vagina may be done by either an end-to-end anastomosis of the vagina or a partial vaginoplasty.

The combination of absence of most of the lower vagina together with a functioning uterus presents a difficult problem. The upper part of the vagina will collect menstrual blood and a clinical picture similar in many ways to haematocolpos will be seen. Urinary obstruction is rare, however, since the retained blood lies above the level of the bladder base (Fig. 34.14). Diagnosis is more difficult and it may not be at all certain how much of the vagina is absent or how extensive the surgery would need to be to release the retained fluid and recreate the normal anatomy. Imaging may be by ultrasound or by the use of magnetic resonance imaging (MRI), and both these techniques may be successful in determining the exact anatomical relationships prior to surgery being performed. However, in the clinical situation the surgical approach is rarely entirely through the perineum and usually involves a laparo-tomy to establish finally how best the anatomy can be recreated.

Treatment is difficult and a dissection upwards is made as in the McIndoe-Read procedure. The blood is released, but its discharge for some time later may interfere with the application for a mould and skin graft. If possible, the upper and lower portions of the vagina should be brought together and stitched so that the new vagina with its own skin is created obviating the risk of contraction. However, the upper fragment tends to retract upwards resulting in a narrow area of constriction some way up the vagina, and this results in subsequent dyspareunia.

problem. Redundant portions of the membrane may be removed but nothing more should be done at this time. Fluid will then drain naturally over some days. Examination a few weeks later is desirable to ensure that no pelvic mass remains which might also suggest haematos-alpinx. In fact, haematosalpinx is most uncommon except in cases of very long standing and associated with retention of blood in the upper vagina. On these rare occasions, when a haematosalpinx is discovered, laparotomy is desirable, the distended tube being removed or preserved as seems best. Haematometra scarcely seems to be a realistic clinical entity, the thick uterine walls permitting comparatively little blood to collect therein. The subsequent menstrual history and fertility of patients who are successfully treated are probably not significantly different from that of unaffected women, although patients who develop endometriosis may have some fertility problems.

When the obstruction is more extensive than a thin membrane and a length of vagina is absent, diagnosis

LONGITUDINAL VAGINAL SEPTUM

A vaginal septum extending throughout all or part of a vagina is not uncommon; such a septum lies in the sagittal plain in the midline, although if one side of the vagina has been used for coitus the septum may be displaced laterally to such an extent that it may not be obvious at the time of examination. The condition may be found in association with a completely double uterus and cervix or with a single uterus only. In obstetrics this septum may have some importance if vaginal delivery is to be attempted. In these circumstances the narrow hemivagina may be inadequate to allow passage of the fetus and serious tears may occur if the septum is still intact at this time. It is therefore prudent to arrange to remove the vaginal septum as a formal surgical procedure whenever one is discovered, either before or during pregnancy. The septum may occasionally be associated with dyspareunia when similar management is indicated.

Ectopic Anus
Fig. 34.15 Ectopic opening of the anus at the fourchette.

Occasionally, a double vagina may exist in which one side is not patent, and a haematometra and haematocol-pos may occur in a single side. Under these circumstances the vaginal septum must be removed to allow drainage of the obstructed genital tract and the results are in general excellent.

Vulval anomalies

Rarely, anomalies in the development of bowel or bladder may give rise to considerable abnormality in the appearance of the vulva. The anus may open immediately adjacent to the vulva or just within it (Fig. 34.15). Bladder exstrophy will give rise to a bifid clitoris and anterior displacement of the vagina, in addition to bladder deformities themselves. Further discussion of these complex problems may be found in Edmonds [14].

Wolffian duct anomalies

Remnants of the lower part of the Wolffian duct may be evident as vaginal cysts, or remnants of the upper part as thin-walled cysts lying within the layers of the broad ligament (paraovarian cysts). It is doubtful if the vaginal cyst per se calls for surgical removal, although removal is usually undertaken. The cysts may cause dyspareu-nia and this is the most likely reason for their discovery and surgical removal. Cysts situated at the upper end of the vagina may be found to burrow deeply into the region of the broad ligament and the base of the bladder and should be approached surgically with considerable caution. A painful and probably paraovarian cyst will require surgical exploration and its precise nature will be unknown until the abdomen is opened. Such cysts normally come out easily from the broad ligament.

Intravenous Pyelogram Picture
Fig. 34.16 An intravenous pyelogram in a patient with absence of the vagina, showing a single kidney and a gross abnormality of the course of the ureter.

Renal tract abnormalities

The association between congenital malformations of the genital tract and those of the renal tract is mentioned above. When a malformation of the genital organs of any significant degree presents some investigation to confirm or exclude a renal tract anomaly would be wise. An ultrasound scan can be arranged without any upset to the patient and will probably be sufficient in the first instance; however, if any doubt arises, an intravenous pyelogram may be performed. Lesions such as absence of a kidney, a double renal element on both or one side, a double ureter or a pelvic kidney (Fig. 34.16) may not call for immediate treatment but may do so later; moreover, it is as well to be aware of such abnormalities if the abdomen is to be opened for exploration or treatment of the genital tract lesion itself.

Ectopic ureter

One abnormality which apparently presents with gynaecological symptoms is the ectopic ureter (Fig. 34.17). A ureter opening abnormally is usually an additional one,

Imperforate Vagina
Fig. 34.17 An intravenous pyelogram in a child with an imperforate vagina. Both ureters open ectopically into the posterior urethra.

although sometimes a single one may be ectopic. The commonest site of the opening is the vestibule, followed closely by the urethra and then the vagina. Other sites are less common. The main symptom is uncontrollable wetness. The amount of moisture appearing at the vulva may, however, be small and is sometimes mistaken for a vaginal discharge. This confusion together with difficulties in confirming the diagnosis of an ectopic ureter, even when one is suspected, may lead to many patients being investigated for years before the condition is recognized. Diagnosis can sometimes be easy but is usually not so. The orifice at the vestibule may be clearly visible but more often careful search is necessary to locate it, if it can be seen at all. Cystoscopy and urethroscopy may be necessary to establish if normal ureteric openings exist in the bladder. Radiological study may be helpful by indicating a double element on one or both sides. Treatment will involve the help of a urological surgeon, and partial nephrectomy and ureterectomy or reimplantation of the ectopic ureter into the bladder may be undertaken.

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Responses

  • piia
    When labia of vaginer is intact?
    3 years ago

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