Transverse Vaginal Septum

Transverse vaginal septa are believed to arise from a failure in fusion or canalization (or both) of the urogenital sinus and müllerian ducts. The estimated incidence of transverse vaginal septum is 1 in 70,000 females (Banerjee and Laufer, 1998). Many of the patients have amenorrhea and a distended upper vagina. A complete transverse vaginal septum may be located at various levels in the vagina, but there is a higher frequency in the middle and upper third of the vagina. In one large series the distribution was 46% in the upper vagina, 40% in the middle vagina, and 14% in the lower vagina (Fig. 134–2) (Lodi, 1951). The septa are usually less than 1 cm thick and frequently have a small central or eccentric perforation (Suidan and Azoury, 1979). Even in cases in which a perforation is present, significant obstruction and ascending infection can occur.

Figure 134–2 Transverse vaginal septum: A, high (upper vagina); B, middle; C, low.

(From Yerkes EB, Rink RC. What urologists should know about pediatric gynecologic abnormalities. Contemp Urol 2002;14:12.)

Transperineal, transrectal, and abdominal ultrasonography and MRI may be beneficial in establishing the diagnosis and determining the location and thickness of a transverse vaginal septum (Ammann et al, 1983; Doyle, 1992; Meyer et al, 1995; Caloia et al, 1998; Fedele et al, 1999; Lang et al, 1999). MRI can help determine whether a cervix is present so that a high septum can be differentiated from congenital absence of the cervix. Failure to differentiate between these diagnoses can result in significant patient morbidity (Casey and Laufer, 1997).

Several surgical treatment modalities have been developed to treat congenital transverse vaginal septa. If the patient’s pain from hematocolpos is manageable, surgery may be delayed with suppression of endometrial activity by a GnRH agonist or continuous oral contraceptives (Beyth et al, 2004). This may allow time for dilatation of the lower vaginal segment, potentially improving the ease of surgical repair. Techniques include simple incision (Brenne et al, 1965; Buttram, 1983), surgical excision of the septum followed by approximation of the corresponding portions of the transversely cut edges of the upper and lower mucosal membranes of the septum (Rock et al, 1982) and the use of Z-plasties involving vaginal mucosa (Wierrani et al, 2003). Vaginal stenosis at the site of resection is the most common complication (Joki-erkkila and Heinonen, 2003). The primary advantage of a Z-plasty is that as the suture line contracts the incision is more likely to take on a longitudinal rather than a transverse orientation. Placement of a vaginal mold subsequent to surgery has been reported to further reduce the risk of postoperative stenosis (Bijsterveldt and Willemsen, 2009). Characteristics of molds for transverse septa are different than those used after a McIndoe vaginoplasty (see later). Whereas a solid mold may be used after a vaginoplasty skin graft (because there is no uterus), the mold used after resection of a transverse septum is ideally hollow to allow egress of menstrual flow.

Vaginal Atresia (Distal Vagina)

Vaginal atresia occurs when the urogenital sinus fails to contribute to formation of the lower (distal) portion of the vagina. This condition differs from vaginal agenesis and testicular feminization in that the müllerian structures are not affected. As a result, the uterus, cervix, and upper portion of the vagina are normal. A very shallow dimple caudal to the urethral opening may be appreciated on physical examination. Palpation of a distended vagina on rectal examination may help distinguish this condition from testicular feminization or vaginal agenesis. Radiographic evaluation in the form of ultrasonography or MRI, or both, is mandatory to adequately define the müllerian anatomy before intervention.

Surgical correction consists of a transverse incision at the level of the hymenal ring. Dissection is carried out through the fibrous area of the absent lower vagina until the upper vagina is reached. As in treatment of a transverse vaginal septum, distention of the vagina with retained menstrual blood products can prove extremely beneficial in that it acts as a tissue expander. After the obstruction is drained and the vaginal mucosa is identified, a pull-through procedure can be performed to bring the distended vagina down to the introitus. The distance to bridge between the vagina and the perineal surface can almost always be successfully managed with perineal skin flaps or simple mobilization of the vagina (or both). Ramenofsky and Raffensperger (1971) described a combined abdominoperineal approach that can be of help in exposing and anastomosing the distal vagina to the perineal skin.

Vaginal Agenesis (Müllerian Aplasia)

Vaginal agenesis, which occurs at an incidence of approximately 1 in 5000 live female births, is congenital absence of the proximal portion of the vagina in an otherwise phenotypically (i.e., normal secondary sexual characteristics), chromosomally (i.e., 46,XX), and hormonally (i.e., normal levels of luteinizing hormone and follicle-stimulating hormone) intact female (Bryan and Nigro, 1949; Griffin et al, 1976). Although Realdus Columbus is credited by some authors as the first to describe a case of vaginal agenesis, Mayer was one of the first to report vaginal agenesis in stillborn children (Mayer, 1829; Lesavoy, 1985). In 1838, Rokitansky reported 19 adult autopsy cases of uterovaginal agenesis, including 3 with associated unilateral renal agenesis. In 1910, Küster recognized urologic associations, such as renal ectopy and agenesis, along with skeletal deformities. Hauser and Schreiner (1961) brought further attention to the frequent association of renal and skeletal anomalies in these patients and stressed the differences between patients with these findings and those with testicular feminization.

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, as the entity of müllerian aplasia has come to be known, results from failure of the sinovaginal bulbs to develop and form the vaginal plate (Fig. 134–3). This may be caused by improper induction of the sinovaginal bulbs from the neighboring uterovaginal primordium. Chronologically, the uterovaginal canal develops at a point in embryogenesis during which other critical mesodermally derived organ systems are also forming, which in part explains the many associated findings. Müllerian aplasia has also been associated with maternal deficiency of galactose-1-phosphate uridyltransferase (Cramer et al, 1996). In contrast to vaginal atresia, the hymenal fringe is usually present along with a small vaginal pouch because they are both derived embryologically from the urogenital sinus.

Figure 134–3 Forms of vaginal obstruction. Upper left, Imperforate hymen; upper right, transverse vaginal septum; lower, vaginal agenesis.

(From Yerkes EB, Rink RC. What urologists should know about pediatric gynecologic abnormalities. Contemp Urol 2002;14:12.)

Most patients with MRKH syndrome are initially evaluated by the physician after the expected age of menarche because of primary amenorrhea. This syndrome is in fact second only to gonadal dysgenesis as a cause of primary amenorrhea. A minority of patients have cyclic abdominal pain caused by retention of menstrual blood in the uterus. Physical examination reveals absence of the vagina. Inguinal hernia is less common in this disorder than in the testicular feminization syndrome (Schmid-Tannwald and Hauser, 1973). The karyotype is that of a normal 46,XX woman. Radiographic evaluation is indicated to more fully delineate remnant müllerian structures and search for associated anomalies involving the renal and skeletal systems.

Creation of a Skin Neovagina

Both nonoperative and operative treatment options exist for this anomaly. Regardless of the method used, it can be very helpful to have the patient speak with someone who has previously undergone treatment before treatment is initiated (Ingram, 1981). The nonoperative approach, initially popularized by Frank (1938), involves gentle pressure of graduated hard dilators against the perineal surface to create a progressive invagination of the vaginal dimple. Ingram (1981) modified this technique by using a bicycle seat mounted on a stool. The nonoperative approach has greatest success when a vaginal dimple or pouch is already present (Williams et al, 1984, 1985). Gargollo and colleagues (2009) recently reported their experience with 69 females (mean 17.5 years) with vaginal agenesis treated with progressive perineal dilation. Success, defined as the ability to achieve sexual intercourse, vaginal acceptance of the largest dilator without discomfort, or a vaginal length of 7 cm, was achieved in 88% of patients. The authors concluded that progressive perineal dilation should be offered as first-line therapy in adolescents with congenitally absent vagina.

Modifications of the Frank technique of perineal pressure have been developed that incorporate the surgical placement of tension sutures to aid in directing pressure from a Plexiglas dilator against the vaginal dimple (Vecchietti, 1979). The mold, often referred to as an “olive,” has sutures attached to it that are guided in a cranial direction through the vesicorectal space into the perineal cavity and brought out through the abdominal wall (Vecchietti technique). Tension is progressively increased via the abdominal wall sutures until sufficient vaginal length has been achieved. To avoid a formal laparotomy, laparoscopic techniques have been described to assist in dissection of the tissue plane for the Vecchietti technique (Borruto, 1992; Gauwerky and Wallwiener, 1992; Fedele et al, 1996, 1999; Brucker et al, 2008). In Fedele and colleagues’ more recent series, all patients were found to have healthy vaginal mucosa, with the average vaginal length being almost 8 cm at 3 months. This technique has had limited use by urologists.

If the Frank method has been unsuccessful or is not accepted as a reasonable option by the patient or parents, creation of a functional vagina can be achieved by one of several techniques (Abbé, 1898; McIndoe and Banister, 1938; Hendren and Atala, 1994). The first landmark advance in vaginal reconstruction is attributed to Abbé in 1898. Abbé described dissecting a canal between the rectum and urethra and lining this area with split-thickness skin grafts. This method was later popularized by McIndoe, and the procedure that bears his name has gained wide acceptance in the United States (McIndoe and Banister, 1938). Preoperative preparation consists of full mechanical and antibiotic bowel preparation. A split-thickness skin graft is taken from the buttocks (0.018 to 0.022 inch) and tubularized over a stent (Fig. 134–4). A transverse incision is made at the level of the perineal dimple, and the potential space between the urethra and the rectum is carefully dissected up to the level of the peritoneal reflection. The graft and mold are then inserted into the potential space, and the labia minora are sutured around the stent to prevent extrusion during the initial healing phase (McIndoe, 1950). Many types of vaginal stents have been used for this purpose, including packed gauze, wood covered with a condom, silicone foam, acrylic, various metals, and an inflatable vaginal stent (Concannon et al, 1993; Chen, 1994; Barutcu and Akguner, 1998). The Foley catheter is replaced by a suprapubic catheter, and postoperatively the patient is kept at strict bed rest for 1 full week. A high incidence of postoperative vaginal stenosis necessitates postoperative vaginal dilation (Ingram, 1981). Excellent patient satisfaction has been reported in most large series (Martinez-Mora et al, 1992; Strickland et al, 1993; Alessandrescu et al, 1996).

Figure 134–4 McIndoe skin vagina sewn over a vaginal stent.

Other options for creation of a neovagina with local tissues include the use of full-thickness skin grafts from the buttocks or full-thickness skin flaps based on the labia majora. Those who champion the use of full-thickness skin grafts report a lower incidence of graft contracture than when split-thickness graft techniques are used (Sadove and Horton, 1988). The Williams vaginoplasty involves the creation of a vaginal pouch from the labia majora (Williams, 1964). The combination of this procedure and Frank-type dilation along the vaginal axis can provide a satisfactory result.

Many other surgical procedures have been developed for creation of a functional neovagina with various muscle flaps (e.g., pudendal thigh, rectus abdominis, buttock) (McCraw and Massey, 1976; Lilford et al, 1989; Dumanian and Donahoe, 1992; Wang and Hadley, 1993; Joseph, 1997). The pelvic peritoneum and human amnion are two other donor sites that have been used to create a neovagina (Davydov, 1977; Ashworth et al, 1986; Morton and Dewhurst, 1986; Tamaya and Imai, 1991; Marquis et al, 2008).

Creation of an Intestinal Neovagina

Baldwin first described the use of bowel for creation of the vagina in 1907. The procedure involved anastomosis of a U-shaped segment of sigmoid colon to the perineum with subsequent division of the intervening septum (Hensle and Dean, 1992). Additional experience with this technique was reported by Fall in 1940, but it did not gain widespread acceptance until the 1970s because of high patient morbidity and mortality (Fall, 1940; Pratt, 1972). Subsequent improvements in technique and postoperative care resulted in renewed enthusiasm for these techniques (Turner-Warwick and Kirby, 1990; Hendren and Atala, 1994; Hensle and Reiley, 1998; Tillem et al, 1998). Sigmoid, cecum, and small intestine have all been used successfully for the creation of a functional neovagina.

The day before surgery, the patient undergoes full mechanical and antibiotic cleansing of the alimentary tract. The procedure is performed with the patient supine, the legs spread, and the knees bent (frog-leg position). In an older child, Allen stirrups can be used. For a sigmoid vaginoplasty, the intra-abdominal portion of the procedure begins by first identifying an appropriate length of distal sigmoid with a blood supply that will comfortably reach the perineum (Figs. 134-5 and 134-6). The distal end of the proposed segment is then divided and anastomosed to the perineum (Fig. 134–7). An intervening segment of sigmoid (approximately 3 cm) is then excised to create a space between the oversewn proximal edge of the bowel vagina and the end of the sigmoid, which is anastomosed to the rectum. This maneuver prevents an overlap of suture lines and thereby has the potential advantage of limiting the incidence of fistula formation. The bowel vagina is thereafter fixed to the posterior peritoneum to prevent prolapse. Gosalbez has recently described a modified Monti technique of bowel detubularization for vaginal replacement that can aid in allowing the segment to reach the perineum. By opening the colonic segment close to its mesentery along one side of the bowel and then retubularizing in a Heineke-Mikulicz fashion as described by Monti, the reconfigured segment allows for the mesentery to be located at the most cranial end of tube and allows the caudal end to extend more distally (Gosalbez, 2009).

Figure 134–5 Vaginal agenesis.

Figure 134–7 Bowel vagina: harvest of a colonic segment and creation of vaginal space.

Figure 134–6 Bowel vagina: colonic segment sewn in place.

Although the authors have had the most success with the sigmoid, a small-bowel segment may be chosen with a vascular pedicle that is of adequate length to reach the perineum. After isolating an appropriate length of ileum and reestablishing bowel continuity, the segment is detubularized and reconfigured in a conical arrangement to provide increased internal diameter (Figs. 134-8 and 134-9) (Hendren and Atala, 1994). The segment is then brought down to the perineum and sewn in place, as for a sigmoid neovagina. To avoid a formal laparotomy, laparoscopically assisted techniques have been described for harvest and delivery of the bowel segment to the perineal location (Ota et al, 2000).

Figure 134–8 Bowel vagina: harvest of an ileal segment.

Figure 134–9 Bowel vagina: reconfiguration of the ileal segment to create a larger luminal diameter.

If there is a perineal dimple (i.e., the segment of vagina contributed by the urogenital sinus is present), the bowel segment should be anastomosed directly to it. When a direct perineal anastomosis is required, it is of critical importance to create a large enough space between the rectum and bladder to avoid compromise of the intestinal blood supply. Creation of such a space can be facilitated by the use of progressively larger Hegar dilators. Gentle passage of the intestinal segment into position is facilitated by placing the segment in a large lubricated Penrose drain before transfer to the perineum.

The functional results of bowel vaginoplasty have been excellent. Of the 65 patients reported by Hendren, 16 experienced mild eversion of the bowel segment, which in every case was amenable to simple trimming. Eight patients experienced mild stenosis that was later corrected by appropriate Z-plasties to increase the circumference of the mucocutaneous junction (Hendren and Atala, 1994). Patient satisfaction is high, and the majority of patients who are old enough to engage in sexual relations are able to achieve adequate coitus (Hensle and Reiley, 1998).

Stenosis has been reported more frequently after the use of ileum (Hensle and Dean, 1992). This higher stenosis rate may be due not only to the more narrow ileal lumen but also to the limited mobility of the small bowel mesentery. As a result, the authors and others believe that large intestine is the bowel segment of choice. Two specific indications for use of an ileal segment for bowel vaginoplasty are previous irradiation of the deep pelvis and the absence of large intestine (i.e., cloacal exstrophy). When ileum is used, various methods of reconfiguration can be used to increase the diameter (Hendren and Atala, 1994). Advantages of a bowel vagina over the McIndoe procedure include the lubricating properties of mucus (which may help facilitate intercourse) and the decreased incidence of postoperative contracture (and hence the reduced need for postoperative dilatation). Disadvantages include the frequent need to wear pads because of the chronic vaginal discharge. Daily douching may be necessary to evacuate the mucus. Finally, the potential transmission of blood-borne pathogens such as hepatitis and human immunodeficiency virus may be increased (in comparison to a squamous epithelium-lined vagina) because of the poor barrier effect of the gastrointestinal tract.

All patients undergoing creation of a functional vagina with perineal skin require annual examination because there have been reports of condylomata acuminata and squamous cell carcinoma involving grafts (Duckler, 1972; Rotmensch et al, 1983; Buscema et al, 1987). Annual examination of the bowel vagina is also indicated because adenocarcinoma has been identified after this procedure (Andryjowicz et al, 1985).

The optimal timing of surgery remains a source of debate. The majority of surgeons who favor the McIndoe procedure for construction of a neovagina believe that it is better to wait until adulthood to perform the procedure because a degree of maturity is required to consistently perform daily dilatations. Many surgeons who favor the use of bowel for neovaginal reconstruction do not believe that vaginoplasty should be deferred until the patient reaches adulthood. Hendren and Atala (1994) believe that delaying creation of a neovagina until adulthood may be psychologically traumatic to a young girl. The authors have based timing on the underlying diagnosis and need for a neovagina.

Special Considerations: Cervical Atresia

Cervical agenesis is an uncommon disorder that is associated with symptoms common to other obstructive entities of the female reproductive tract (i.e., primary amenorrhea, cyclic or chronic abdominal pain). Failure to establish the correct diagnosis and thereby choose the appropriate method of surgical intervention can be fraught with disaster and possible patient mortality. MRI is the most useful radiographic modality in establishing this diagnosis (Fig. 134–10). In many circumstances the patient is best served by hysterectomy with subsequent vaginal replacement by one of the previously described techniques (Rock et al, 1984; Cukier et al, 1986). Successful direct anastomosis of the neovagina to the uterine remnant has been reported. Deffarges and coworkers (2001), in describing their experience with uterovaginal anastomosis, reported a 40% pregnancy rate in patients attempting to conceive. Cerclage was performed in only one case. All deliveries were by cesarean section. Although this procedure appears to be successful in the majority of cases, absence of the normal endocervical barrier can leave the patient predisposed to the development of life-threatening ascending infection (Maciulla et al, 1978; Niver et al 1980; Casey and Laufer, 1997).

Figure 134–10 MR image of the pelvis in a 12-year-old girl with Klippel-Feil syndrome and associated proximal vaginal and cervical atresia. The solid arrow points to the most cranial portion of the perineal vaginal pit. The dashed arrow points to the most inferior aspect of the uterus, where no cervical impression can be appreciated.

Key Points

Vaginal Replacement Surgery

• The McIndoe procedure (skin neovagina) is associated with a higher incidence of postoperative vaginal stenosis than a bowel neovagina.

• Vaginal stenosis after creation of an intestinal neovagina is more common with ileum than with large bowel.

• Vaginal reconstruction extending from the perineum to the uterus should be avoided in patients with cervical agenesis (because of the potential life-threatening complication of ascending bacterial infection).

In cases in which it has not been possible to successfully achieve continuity between the uterus and vagina, in-vitro fertilization plus transmyometrial embryo transfer has been performed, with subsequent delivery of a healthy fetus by cesarean section (Anttila et al, 1999; Lai et al, 2001). If this option is considered, hormonal blockade of the endometrium until the time at which the patient desires to initiate a pregnancy is indicated to minimize discomfort and reduce the incidence of endometriosis from retrograde menstrual flow in the fallopian tubes.

Duplication of the Uterus and Cervix with a Unilaterally Imperforate Vagina

Although the majority of obstructive lesions are caused by abnormalities in vertical fusion, occasionally an obstructive process can be encountered in the context of an abnormality in lateral fusion (Figs. 134-11 and 134-12). More than 50 cases of uterus didelphys with a unilateral imperforate vagina have been reported in the world’s literature (Allan and Cowan, 1963; Burbige and Hensle, 1984). As with other obstructive disorders, the patient may have cyclic or chronic abdominal pain. However, unlike other obstructive processes, duplication anomalies with unilateral obstruction do not result in primary amenorrhea. On physical examination, a unilateral abdominopelvic mass that terminates in a bluish bulge in the lateral vaginal wall is often appreciated (Eisenberg et al, 1982). Abdominal ultrasonography and MRI are both excellent at defining the anatomy in a suspected case of unilateral noncommunicating uterine horn. Renal anomalies are frequently encountered on the side ipsilateral to the obstructed system, with renal agenesis being the most common (Eisenberg et al, 1982; Tridenti and Bruni, 1995). A prompt and accurate diagnosis is necessary to prevent injury to the genital organs as a result of chronic cryptomenorrhea and endometriosis. Treatment consists of wide incision of the vertical vaginal septum to release the entrapped menstrual blood.

Figure 134–11 Genitogram of complete müllerian duplication (septated vagina and separate uteri).

Figure 134–12 Fusion anomalies of the müllerian system. Upper left to lower right, Bicornuate uterus (partial), bicornuate uterus, uterine duplication, complete uterine and vaginal duplication, and duplication of the uterus and cervix with a unilateral imperforate vagina.

(From Yerkes EB, Rink RC. What urologists should know about pediatric gynecologic abnormalities. Contemp Urol 2002;14:12.)

Female Circumcision (Infibulation)

Acquired vaginal obstruction may be secondary to a number of ritual female genital mutilation procedures that are widespread in many countries in Africa (stretching in a band from the Horn of Africa through Central Africa to parts of Nigeria), the Middle East, and Muslim populations of Indonesia and Malaysia (Toubia, 1994; Dorkenoo, 1996). Although similar procedures were prescribed to U.S. and British women during the 19th century for the treatment of ailments ranging from epilepsy to lesbianism, all forms of genital mutilation are now illegal in these Western countries. Often referred to as “female circumcision,” the procedure continues to affect an estimated 80 to 110 million women worldwide (Toubia, 1994).

The age at which this procedure is performed ranges from birth to just before marriage. However, it is typically performed on preadolescent children between the ages of 4 and 10 years, most commonly at age 7 (American Medical Association, 1995). The procedure is usually performed without anesthesia in the context of a ceremony designating the rite of passage into adult society (American Medical Association, 1995). The extent of the mutilation varies according to ritual, but the practice predates Islam and is therefore not part of a religion (McCaffrey et al, 1995). In many countries the women have a deinfibulation procedure performed just before consummating the marriage.

The type of mutilation ranges from simple excision of the prepuce of the clitoris (termed sunna) to complete excision of all elements of the vulvar region (McCaffrey et al, 1995).

Toubia (1994) classified the more extensive female genital mutilation procedures according to the amount of tissue destruction:

Figure 134–13 Female infibulation. Note the scarred labia majora with only a pinhole opening for the passage of menstrual fluid and urine.

(From Gonzales ET, Bauer SB, editors. Pediatric urology practice. Philadelphia: Lippincott Williams & Wilkins; 1999. p. 599.)

Closing of the introitus, typically referred to as infibulation or pharaonic circumcision, is performed by a variety of means, including absorbable and nonabsorbable suture materials, thorns, and twigs. The child’s legs are then bound for up to 40 days to ensure secondary healing in the ventral midline (McCaffrey et al, 1995).

The physical, psychological, and reproductive repercussions of these forms of genital mutilation are numerous and include immediate destruction and infection of local tissues (e.g., rectum, urethra). Long-term risks include chronic pain, recurrent urinary tract and vaginal infections, dysmenorrhea, dyspareunia, and apareunia. For individuals with the most narrowing, additional “surgeries” to revise the introital opening may be necessary for both intercourse and vaginal delivery (Aziz, 1980; Toubia, 1994).

Care of a patient who has undergone infibulation must be individualized, not only to provide functionality but also to respect the cultural and ritual desires of the woman. Educating the patient about the normal appearance of the external female genitalia is critical. Visual aids, including photographs or hand-drawn illustrations (or both) of the patient’s anatomy and the planned revision, have been used as part of informed consent to avoid misunderstanding.

Labial Adhesions

Labial adhesions, also referred to as labial agglutination, and synechia vulvae are the most common interlabial abnormality identified in children, ranging in incidence from 0.6% to 1.8% (Norbeck et al, 1993; Leung et al, 1993). This condition occurs predominantly in the first 2 years of life, with a peak incidence between 13 and 23 months (Fig. 134–15). Fusion of the labia minora originates at the posterior fourchette and progresses for a variable distance toward the clitoris. It is important to differentiate this condition from the more serious entity of fusion of the labia majora, as is seen in certain DSDs. It has been hypothesized that hypoestrogenism may play a role in adhesion of the labia minora. Labial adhesions have not been reported in newborn children, presumably because of the protective effect of maternal estrogen (Leung et al, 1993). However, the etiologic role of the hypoestrogenic state has been brought into question by a number of authors (Caglar, 2007; Pulvino et al, 2008). Caglar (2007) measured circulating estradiol levels in 59 girls with labial adhesions and 60 control patients. He demonstrated no difference in the circulating level of estrogen in these two patient groups. Recently it has been shown that estradiol may enhance wound re-epithelialization by promoting heparin-binding epidermal growth factor production in keratinocytes (Kanda et al, 2005). If there is a beneficial effect of topical estrogen it may be to promote healing after the adhesions have been separated. Nonhormonal factors may play an etiologic role in the formation of labial adhesions (Papagianni and Stanhope, 2003). Local irritation and tissue trauma appear to be important inciting events in many cases. Adhesions can rarely be associated with sexual abuse; in such cases, additional physical findings are often noted, including hematoma and lacerations (McCann et al, 1988). Although labial adhesions are usually asymptomatic, urine pooling within the vagina may lead to postvoid dribbling and perineal irritation and may make it difficult to obtain an accurate urinalysis or perform radiographic procedures.

Figure 134–15 Labial adhesions.

Most children with labial adhesions do not require treatment unless they are symptomatic. With the rate of spontaneous resolution reported to be as high as 80% within 1 year, asymptomatic labial adhesions can comfortably be observed (Pokorny, 1992). When necessary, treatment ranges from the topical application of various steroids to surgical division. The topical application of conjugated estrogens has been reported to be successful in separating adhesions in up to 90% of patients (Leung et al, 2005; Khanam et al, 1977). Concern over the possible side effects of breast budding and hyperpigmentation from prolonged use of conjugated estrogen led Myers and associates (2006) to treat a cohort of 19 prepubertal patients with topical betamethasone (0.05%). The authors reported success in 13 (68%) patients after administering one to three courses of twice-daily therapy for 4 to 6 weeks. It is important to have the family place the cream directly on the labia minora. In addition, it is helpful to have the family perform the pull-down procedure a few times a day to put light stress on the midline adhesions and hence facilitate their separation. If topical therapy is not successful, manual separation in the outpatient setting may be indicated. After the application of EMLA cream to the introitus, gentle pressure is applied to the thin connecting membrane with the use of a lubricated probe. Rarely, in cases in which the adhesions are extremely dense, surgical division is required. Although one group has recently advocated oversewing the separated edges with 7-0 chromic sutures (Nurzia et al, 2003), the authors have not found this to be necessary if the family is properly educated about keeping the labia separated (see Fig. 133–14) after the procedure. Recurrence rates appear to be similar when comparing children who have undergone manual separation (16.7%) versus surgical separation (15.4%), emphasizing the importance of having families continue to separate the labia after separation has been achieved (Muram, 1999).

Introital Cysts

Introital cysts in the newborn can represent one of three entities: paraurethral cysts (i.e., Skene duct cyst), remnants of the mesonephric ductal system (Gartner duct cyst), and a covered ectopic ureter. When the cyst is large and clearly emanating from the vaginal introitus, further investigation in the form of a renal-pelvic ultrasound evaluation is indicated to look for renal duplication.

Paraurethral cysts in a neonate represent a dilatation of the periurethral glands, which are located just inside the urethral meatus (Fig. 134–16). These glands are homologues of the male prostatic glands and number between 6 and 30, with the two largest termed the periurethral glands of Skene (Skene, 1880; Gottesman and Sparkuhl, 1979). In a neonate the periurethral glands occasionally respond to maternal estrogen and secrete mucoid material, which can result in cyst formation. The main distinguishing feature of this condition is displacement of the urethral meatus by the mass and, consequently, an eccentric urinary stream. If the urethral meatus can be identified as being completely separate from the mass, radiographic evaluation is not needed to confirm the diagnosis (Nussbaum and Lebowitz, 1983). These cysts are frequently self-limited and often rupture spontaneously. If they are persistent, drainage by a small needle is easily achieved at the bedside.

Figure 134–16 Paraurethral cyst.

(From Yerkes EB, Rink RC. What urologists should know about pediatric gynecologic abnormalities. Contemp Urol 2002;14:12.)

Gartner duct cysts represent cystic remnants of the wolffian duct system and can be found along the anteromedial wall of the vagina (Pradhan and Tobon, 1986). A cystic structure related to a Gartner duct cyst is a covered ectopic ureter that enters into the vagina (Rosenfeld and Lis, 1993; Holmes et al, 1999). Embryologically, the ureter would not be expected to enter the vagina. However, an ectopically located ureter may end in a segment of the wolffian duct system, which in a female is represented by a Gartner duct cyst. In most instances this cystic structure spontaneously ruptures before delivery, thereby resulting in direct communication between the ectopic ureter and the vagina. However, if the surface epithelium fails to rupture, a covered, urine-filled cyst will exist within the vagina. Intraoperative injection of the cystic structure with radiographic contrast material may be beneficial in outlining the anatomy (Fig. 134–17). Incision of the cystic structure relieves the obstruction. As a general rule, the more ectopic the insertion of the ureter, the more dysplastic the segment that it drains will be. However, renal moieties that ectopically insert into the vagina may produce urine. Subsequent upper pole heminephrectomy may be indicated if the child has significant urine production from the segment (resulting in incontinence) or an infection develops after decompression.

Figure 134–17 Retrograde injection of an ectopic ureter inserting into a Gartner duct cyst. After injection of a vaginal cyst, contrast agent ascends cranially into an atretic, dysplastic ureter.

Hymenal Disorders

Hymenal skin tags are virtually a normal finding and are rarely symptomatic (Figs. 134-18 and 134-19). When symptomatic (i.e., bleeding), they should be excised to ensure that they do not represent a malignancy and to provide symptomatic relief. Congenital abnormalities of the hymen are not uncommon and range from an imperforate hymen to one with numerous small microperforations.

Figure 134–18 Normal hymenal ring.

(From Emans SJ. Office evaluation of the child and adolescent. In: Emans SJ, Laufer MR, Goldstein DP, editors. Pediatric and adolescent gynecology. 4th ed. Philadelphia: Lippincott Williams & Wilkins; 1998.)

Figure 134–19 Hymenal skin tag.

Imperforate hymen is probably the most common congenital obstructive anomaly of the female reproductive tract. The diagnosis is most frequently made at birth by noting the presence of a bulge along the posterior aspect of the introitus, which represents retained fluid within the vagina, or by palpation of a suprapubic mass from a distended vagina (Fig. 134–20). The buildup of retained vaginal secretions in the neonatal period, which imparts a whitish appearance to the bulging hymenal membrane, is caused by maternal estradiol stimulation. If the diagnosis is made after the neonatal period, the mucus will often have been reabsorbed and a bulge in the hymenal membrane may no longer be evident. On occasion, the diagnosis is not made until the adolescent period, when the patient experiences amenorrhea and possibly cyclic abdominal pain. In these circumstances, a bluish bulging hymen may be observed on genital inspection and a mass will be appreciated on rectoabdominal palpation.

Figure 134–20 Imperforate hymen. Note the significant distention from vaginal secretions.

(From Yerkes EB, Rink RC. What urologists should know about pediatric gynecologic abnormalities. Contemp Urol 2002;14:12.)

In newborns, repair by incision of the hymenal tissue at the bedside is performed in the transverse direction to avoid inadvertent extension of the incision anteriorly or posteriorly (which might injure the urethra or rectal structures). Simple aspiration of the vagina without a definite drainage procedure should be discouraged because incompletely evacuated material may be prone to ascending bacterial growth. In pubertal girls, general anesthesia with excision of excess hymenal tissue may be indicated (Fig. 134–21).

Figure 134–21 Intraoperative photograph showing incisional drainage of an imperforate hymen.

(From Yerkes EB, Rink RC. What urologists should know about pediatric gynecologic abnormalities. Contemp Urol 2002;14:12.)

Acquired abnormalities of the hymenal ring usually result from sexual abuse. The associated finding of a hematoma, abrasion, or laceration in combination with hymenal transection should raise the possibility of this diagnosis. Proper examination under anesthesia and forensic swabbing of affected areas should be undertaken with the use of a standardized protocol.

Prolapsed Urethra

Urethral prolapse generally involves complete circumferential eversion of the urethral mucosa at the level of the external urethral meatus (Fig. 134–22) (Lowe et al, 1986). This entity, which was first described by Solinger in 1732, occurs most often in prepubertal black girls and in postmenopausal white women (Epstein and Strauss, 1937; Richardson et al, 1982). Various causes that have been proposed for urethral prolapse include hypoestrogenism (Desai and Cohen, 1997), abnormal connections between the inner longitudinal and outer circular muscle layers of the distal urethra (Lowe et al, 1986), and episodic increases in intra-abdominal pressure (Lowe et al, 1986; Desai and Cohen, 1997; Valerie et al, 1999). The most common initial complaint is bleeding from the edematous and friable mucosa, which results in blood spotting on the underwear (Richardson et al, 1982; Chaouachi et al, 1989). Urethral prolapse is easily recognized as a doughnut-shaped mass with the urethral meatus at the center. If the diagnosis can be confirmed by passing a urethral catheter, radiographic evaluation is not indicated (Nussbaum and Lebowitz, 1983). Treatment options include observation, topical corticosteroids, and surgical excision (Redman, 1982; Fernandes et al, 1993). Sitz baths may be helpful. Nonoperative treatment may lead to spontaneous reduction of the prolapse, but a recurrence rate of up to 67% has been noted (Jerkins et al, 1984). Many methods of surgical repair have been described. Circumferential excision of the redundant mucosa with subsequent suturing of the normal urethra to the vestibule is the procedure of choice (Devine and Kessel, 1980). Other methods, including ligation over a transurethral catheter with subsequent sloughing and cryosurgery, should be discouraged (Owens and Morse, 1968; Klaus and Stein, 1973).

Figure 134–22 Urethral prolapse.

(From Yerkes EB, Rink RC. What urologists should know about pediatric gynecologic abnormalities. Contemp Urol 2002;14:12.)

Prolapsed Ureterocele

An ectopic ureterocele is a cystic dilatation of the terminal portion of the ureter that occurs predominantly in white females (Mandell et al, 1980). Approximately 90% of ectopic ureteroceles are associated with the upper pole of a duplex collecting system. Although they normally remain positioned proximal to the bladder neck, some may prolapse through the urethra during micturition, almost always in infancy, and result in urinary retention and a relative urologic emergency (Gingell et al, 1971). Depending on the length of time that the ureterocele has been prolapsed, it may vary in color from pink to dusky purple (Fig. 134–23). If a prolapsed ureterocele is in the differential diagnosis, bladder-renal ultrasonography should be performed to look for upper pole hydronephrosis in a duplicated collecting system (Fig. 134–24).

Figure 134–23 Prolapsed ureterocele. Note the catheter inserted in the urethra.

Figure 134–24 A ureterocele evident on ultrasonography of the bladder.

(From Yerkes EB, Rink RC. What urologists should know about pediatric gynecologic abnormalities. Contemp Urol 2002;14:12.)

Treatment of a prolapsed ureterocele consists of either needle decompression or incision and reduction and then placement of a urethral catheter. Although this can occasionally be achieved in the emergency department setting, abdominal straining by the infant may make this procedure difficult, and treatment under general anesthesia is often preferable.

Injection of radiographic contrast material into the ureterocele can be helpful in identifying the relevant anatomy.

Urethral Polyp

The pediatric equivalent of a urethral caruncle, namely, a urethral polyp, is a rare lesion that can be manifested as an intralabial mass (Fig. 134–25). The etiology of true lesions has not been completely elucidated, but in a young child they probably represent either hamartomatous growth or a response to inflammation.

Figure 134–25 Urethral polyp: probe in urethra and Babcock clamp on urethral polyp.

(From Yerkes EB, Rink RC. What urologists should know about pediatric gynecologic abnormalities. Contemp Urol 2002;14:12.)

The authors described two young girls with an interlabial mass. Histologic examination of each excised mass revealed a benign urethral polyp covered with transitional and squamous epithelium (Klee et al, 1993). Urethral polyps should be included in the differential diagnosis of an interlabial mass in young female patients.

Vaginal Rhabdomyosarcoma

Vaginal rhabdomyosarcoma is most often manifested as a grapelike cluster of tissue emanating from the posterior aspect of the vestibule (Fig. 134–26). The mean age of patients with primary vaginal tumors is younger than 2 years (Hays et al, 1988). Of all the female genital tract primary tumors, vaginal primary tumors appear to have the best prognosis. This excellent prognosis is thought to be a result of predominance of the embryonal cell type and relatively early detection because of symptoms of bleeding (Hays et al, 1988). Once a tissue diagnosis has been made by biopsy, proper staging with abdominal and pelvic computed tomography, chest radiography, and bone marrow biopsy is critical to optimal stratification of these patients into treatment protocols (Hays et al, 1985). Advances in chemotherapy have led to a reduction in the role of surgery for this disease with each subsequent Intergroup Rhabdomyosarcoma Study (IRS) trial: IRS-I, 100%; IRS-II, 70%; IRS-III, 30%; and IRS-IV, 13% (Andrassy et al, 1999). After chemotherapy, local resection may be required, but unlike other malignancies of the vagina, wide excision of the involved organ has no role except for persistent or recurrent disease (Hensley, 2000).

Figure 134–26 Vaginal rhabdomyosarcoma.

(From Yerkes EB, Rink RC. What urologists should know about pediatric gynecologic abnormalities. Contemp Urol 2002;14:12.)