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35 Vaginal Reconstruction for Congenital and Acquired Abnormalities

Arnold G. Coran and Kathleen Graziano

Table 35.1 Contents Surgical correction of vaginal abnormalities Vaginal abnormality Surgical correction 35.1 Introduction . . . 441 35.2 Anomalies of the . . . 441 1. Ambiguous genitalia 35.2.1 Embryology . . . 441 a) Low insertion of vagina Perineal flap 35.3 Ambiguous Genitalia . . . 442 b) High insertion of Passerini genito- 35.3.1 Congenital Adrenal Hyperplasia (Female vagina (rare) vaginoplasty ) . . . 442 35.3.1.1 Low Insertion of the Vagina . . . 442 2. Persistent 35.3.1.2 High Insertion of the Vagina . . . 443 a) Low insertion of vagina Cutback vaginoplasty 35.3.2 Mixed Gonadal Dysgenesis . . . 444 b) Medium insertion of vagina Urogenital mobilization 35.3.3 . . . 444 c) High insertion of vagina Passerini genito- 35.4 Persistent Urogenital Sinus . . . 444 vaginoplasty 35.5 . . . 444 35.5.1 Mayer-Rokitansky Syndrome . . . 445 3. Absent vagina – with 35.5.2 Testicular Feminization Syndrome . . . 445 or without a 35.5.3 Acquired Abnormalities . . . 445 a) Mayer-Rokitansky Colovaginoplasty 35.6 Colovaginoplasty . . . 445 syndrome 35.7 Cloacal Anomalies . . . 446 b) Testicular feminiza- Colovaginoplasty 35.8 Congenital Vaginal Obstruction . . . 447 tion syndrome 35.9 Summary . . . 447 4. Cloacal anomaly References . . . 447 a) Low common channel Perineal vaginoplasty b) Medium common channel Urogenital mobilization c) Long common channel Intestinal vaginoplasty 35.1 Introduction 5. Acquired abnormalities

Most anomalies of the female genitalia are congeni- a) Resection for rhab- Colovaginoplasty domyosarcoma tal and present at birth. These include vaginal atre- sia, vaginal obstruction due to imperforate or a high , and anomalies of the internal and external genitalia in patients with ab- 35.2 Anomalies of the Vagina normalities. A smaller number of patients present at the time of puberty because of primary ; 35.2.1 Embryology this includes patients with the Mayer-Rokitansky syn- drome and testicular feminization syndrome (TFS). Normal female genitalia result from the pairing, fu- The incidence of these anomalies varies between sion, and recanalization of the Mullerian ducts; this 1:4,000 live births and 1:10,000 live births. This wide process continues in a cephalad and caudal direction. range relates to differences in the definition and se- The more cephalad portions form the fallopian tubes, verity of these anomalies. The pediatric surgeon must and the fused portion, or uterovaginal primordium, have knowledge of a wide variety of presentations and forms the uterus and . The vagina develops the treatment for each entity. Surgical correction is from paired solid outgrowths of the urogenital sinus predicated on the anatomy. Table 35.1 lists the com- called the sinovaginal bulbs. The fibromuscular por- mon vaginal abnormalities and the surgical correc- tion of the vagina is formed from these bulbs as they tion of each. grow caudally toward the end of the uterovaginal 442 Arnold G. Coran and Kathleen Graziano

primordium. The precise boundary between the por- disorder is characterized by a normal 46,XX karyo- tion of the vagina contributed to by the uterovaginal type. The phenotypic appearance of the patient is due primordium and the urogenital sinus is not defined. to exposure to excessive endogenous in Defects can occur in development, fusion, and ca- utero. The amount of virilization can vary from mild nalization. Failure of development leads to agenesis clitoral hypertrophy to severe forms where the clitoris and failure of fusion leads to a variety of anomalies resembles a penis. The spectrum of phenotypes is il- including duplication. Failure of canalization can lead lustrated in Fig. 35.1. This is due to deficiency of one to the formation of vaginal septa. The genital tubercle of three enzymes: 21-hydroxylase, 11-hydroxylase, or forms the clitoris and the genital swellings form the 3-beta hydroxysteroid dehydrogenase. 21-Hydroxy- [15]. lase deficiency is seen in 75–91% of patients. The first goal of treatment is to address the steroid deficiencies. Glucocorticoid replacement is given if necessary and 35.3 Ambiguous Genitalia patients with the salt-wasting form of the syndrome are given fluorocortisone. Surgery is then advised de- In order to evaluate patients who are born with abnor- pending on the amount of virilization present in the mal external genitalia, a surgeon requires a systematic external genitalia. approach to diagnosis. A comprehensive evaluation includes a chromosomal analysis, family history, and laboratory studies, including urine testing for steroid 35.3.1.1 Low Insertion of the Vagina levels and serum testing for electrolyte abnormalities. Physical examination should focus on establishing the For most patients with the common form of this syn- presence or absence of gonadal symmetry. Ultrasound drome, low insertion of the vagina is present and sur- of the abdomen and contrast genitography complete gical correction involves perineal vaginoplasty and/or the evaluation and can help accurately diagnose the clitoral recession. Every effort is made to preserve the various disorders and help guide their treatment. neurovascular bundle in order to preserve vascular- ity and sensation. The procedure involves degloving of the enlarged clitoris and dissecting the erectile tis- 35.3.1 Congenital Adrenal Hyperplasia sue to the bifurcation. Plication sutures are placed lat- (Female Pseudohermaphroditism) erally and the tissue is folded under the pubis while the sutures are tied. In cases where the phallus is so Congenital adrenal hyperplasia is the most common large that reduction clitoroplasty is not possible (a diagnosis associated with ambiguous genitalia and rare event), the corporal bodies can be resected with has an incidence of 1:16,000 live births [16]. This preservation of the glans and neurovascular bundle.

Fig. 35.1 Spectrum of phenotypes in patients with congenital adrenal hyperplasia 35 Vaginal Reconstruction for Congenital and Acquired Abnormalities 443

A large glans can be reduced by resecting a wedge of the ventral tissue and closing the skin edges. The vaginoplasty for low urogenital sinus abnormalities is illustrated in Fig. 35.2 and is performed by using a U- or Y-shaped incision posterior to the opening. The vagina is mobilized if necessary with traction sutures and the posterior anastomosis is performed with in- terrupted absorbable sutures.

35.3.1.2 High Insertion of the Vagina

Patients who are severely masculinized with a high in- sertion of the vagina, which is very rare, may require a complex clitorovaginoplasty. Historically, Hendren described a perineal pull-through vaginoplasty, as shown in Fig. 35.3 [6–8]. This involves separation of the vagina from the urogenital sinus and creation of two U-shaped flaps on the perineum above and below the area of the intended vaginal opening. The perineal flaps are required due to the inadequate length of the vagina, which enters the urogenital sinus high, close to the external sphincter of the urethra. In addition, the vagina itself is often diminutive. The final closure is an H-shaped configuration. Drawbacks to this procedure include an abnormal appearance to the perineum. We prefer the Passerini technique for this form of the ad- renogenital syndrome because it results in a normal- appearing introitus [13]. Figure 35.4 illustrates the preoperative and postoperative appearance. Cystos- copy is performed and a Fogarty balloon catheter is placed in the vagina. An inverted Y incision is made starting at the base of the phallus, which is completely Fig. 35.2 Vaginoplasty for low urogenital sinus abnormalities

Fig. 35.3 Hendren flap vaginoplasty.cath. Catheter 444 Arnold G. Coran and Kathleen Graziano

degloved in the plane between Buck’s fascia and the ing. The skin edges are then closed and the vaginal Dartos layer, mobilizing the urogenital sinus down to opening is probed with a dilator. where the urethral meatus is to be located. This leaves flaps, which will be used to construct the distal vagina. The midline attachments of the perineal and pelvic 35.3.2 Mixed Gonadal Dysgenesis floor musculature are divided posteriorly between the urogenital sinus and the rectum until the balloon is Patients with this disorder have dysgenetic gonads reached and the vagina exposed. The vagina is sepa- and retained Mullerian structures, usually a streak go- rated from the urethra and the opening is closed with nad on one side and a dysplastic testis on the opposite interrupted absorbable sutures. Traction sutures are side. Karyotypic analysis can reveal 46,XY or 45,XO/ placed in the vagina. A reduction clitoroplasty is per- XY. Removal of the rudimentary gonads is necessary formed as described above except in cases where the due to a risk of degeneration and malignancy. Most of phallus is too large, and then a resection of the corpo- these patients are raised as girls and surgical therapy ral bodies and clitoral reduction is performed, taking includes bilateral gonadectomy, clitoral recession, and care to preserve the dorsal neurovascular bundle. The vaginoplasty, usually a simple perineal flap vagino- urogenital sinus is split dorsally up to the point where plasty. it approaches the recessed clitoris, where a Y-flap is left and tacked down to form the urethral opening. The flaps that were created from the degloving are su- 35.3.3 True Hermaphroditism tured to the open urogenital sinus and this is tabular- ized and anastomosed to the exposed vaginal open- Patients with true hermaphroditism are rare and have normal male and female gonadal tissue. Eighty per- cent have a karyotypic makeup consisting of 46,XX, but the chromosomal composition can be 46,XY or 46,XX/XY mosaic. The majority are raised as females and vaginal reconstruction follows the same guide- lines as used for other forms of intersexuality.

35.4 Persistent Urogenital Sinus

Simple persistence of a urogenital sinus is defined as a common channel for the vagina and urethra, not as- sociated with anorectal abnormalities or ambiguous genitalia. A genitogram should be performed to de- fine the level of insertion of the vagina into the com- mon channel. Low insertion may be treated with a cutback vaginoplasty. A medium level of insertion of the vagina may require total urogenital mobilization. A very high insertion is best treated with the Passerini technique.

35.5 Vaginal Atresia

Failure of the Mullerian ducts to reach the urogenital sinus contributes to congenital vaginal atresia. This can present as complete atresia, proximal atresia, or distal atresia, and each form has a different clinical picture. Complete atresia results in normal fallopian Fig. 35.4 Passerini genitovaginoplasty. A Preoperative anat- tubes and usually a rudimentary or . omy. B Immediate postoperative result. C One month postop- The vaginal plate is in the form of a fibrous band. In erative result proximal atresia, the fallopian tubes as well as the cer- 35 Vaginal Reconstruction for Congenital and Acquired Abnormalities 445 vix and uterus are hypoplastic or absent. Distal atre- 35.5.3 Acquired Abnormalities sia results when there is a failure of the sinovaginal bulbs, arising from the urogenital sinus, to proliferate. Rhabdomyosarcoma of the vagina or sarcoma bot- In this presentation, the fallopian tubes, uterus, and ryoides has the typical presentation of a lobulated, cervix are normal. grapelike mass protruding from the introitus, and oc- curs only rarely in girls over the age of 8 years [10]. The mass is irritating and there is a bloody discharge 35.5.1 Mayer-Rokitansky Syndrome present. The tumor begins in the subepithelial layer and can expand rapidly and be multicentric. In the Classic total agenesis of the vagina has been described past, these tumors have been treated with radical pel- as Mayer-Rokitansky syndrome or Rokitansky-Küster- vic exenteration. A less mutilating approach involving Hauser syndrome. These patients are characterized by chemotherapy and local resection is now used. In rare a 46,XX karyotype and they account for 15% of fe- cases, patients may not respond completely to chemo- males who present with primary amenorrhea. Com- therapy and may require complete vaginal resection plete absence of a vagina is present in 75% of patients, and hysterectomy. In one report of 17 females, surgi- while 25% will have a short vaginal pouch. The pres- cal cure was achieved in 15 with subsequent success- ence of a uterus is variable, but usually a rudimen- ful menses and conception in a few [11]. When resec- tary bicornuate uterus is seen, which rarely produces tion results in a cure, the vagina can be reconstructed menstrual blood, but may cause monthly cramping. at or after puberty with a colovaginoplasty. Normal and fallopian tubes are present. One- third of these patients have urinary tract anomalies and about 12% have skeletal anomalies. 35.6 Colovaginoplasty

Reconstruction of the vagina for congenital or ac- 35.5.2 Testicular Feminization Syndrome quired absence can be accomplished by several differ- ent procedures, which are summarized in Table 35.2. This entity is one form of insensitivity syn- The goals of therapy should include fertility, if at all drome, including defects in testosterone synthesis, possible, adequate sexual function without the need androgen resistance syndromes, and 5-alpha reduc- for continual dilatations or lubrication, and elimina- tase deficits. TFS is due to insensitivity of the andro- tion of the risk of malignant change in the intraab- gen receptors in the external genitalia. The karyotype dominal gonads. Historically, the Frank procedure, in these patients is 46,XY. Diagnosis is frequently the McIndoe procedure, and the laparoscopic trac- made during routine inguinal herniorrhaphy in a girl tion approach described by Vecchietti have been when a gonad is found in the inguinal canal. Patients used. The Frank procedure involves progressive non- can also present with primary amenorrhea at puberty. surgical dilatation with graduated dilators used for Typically, examination reveals a very short vaginal 20 min per day [4]. A 43% success rate was reported vault. Treatment consists of bilateral gonadectomy and failures were attributed to a lack of compliance. to prevent masculinization at puberty and the rare McIndoe described dissection of the space between case of malignancy. Reconstruction with an intestinal the rectum and bladder with placement of a mold segment is performed at puberty. Some cases can be covered with a split-thickness skin graft [12]. Dilators treated with progressive vaginal dilatation if there is a are then used during epithelialization of the neova- reasonable vaginal pouch. gina. Complications rates are small (10%) and include

Table 35.2 Techniques of vaginal reconstruction for congenital and acquired absence [5]. STSG split-thickness skin graft Procedure Technique Advantages Disadvantages Frank Graduated dilators Noninvasive Noncompliance McIndoe STSG-covered stent No intraabdominal surgery Requires dilators, lubricants Vecchietti Intraabdominal traction Can be done laparoscopically Requires dilators, lubricants Intestinal vaginoplasty Bowel as neovagina No lubricants required Major operation 446 Arnold G. Coran and Kathleen Graziano

failure of the graft to take, hematoma formation, and hymenal region of the vulva is incised and the vagi- fistula occurrence. A drawback to this method is the nal tract is bluntly dissected between the bladder and requirement for lubricants. The Vecchietti procedure rectum to the level of the peritoneal reflection. The involves intraabdominal traction applied to the peri- open sigmoid loop is pulled down into position. A neal membrane causing invagination over the course single-layer anastomosis is performed in the hymenal of 1 week [2]. This technique still requires the use of region. dilators. All of these techniques rarely produce a deep Our series includes 36 patients who underwent vaginal cavity. Because of this, we prefer intestinal intestinal vaginoplasty for a variety of anomalies and vaginoplasty for reconstruction and have obtained is depicted in Fig. 35.6. Fourteen patients had Mayer- very satisfactory results using a segment of colon as Rokitansky syndrome, 10 had TFS, 8 had cloacal an interposition graft [17]. anomalies, 3 had vaginal rhabdomyosarcoma, and 1 The technique of colovaginoplasty involves explo- patient had mixed gonadal dysgenesis. Some groups ration of the abdomen and pelvis through a Pfannen- have described a small incidence of diversion colitis stiel incision or by laparoscopy (Fig. 35.5). In cases of with this procedure, but we have not seen this [1,9,14]. Mayer-Rokitansky syndrome, the uterine horns are All patients report adequate patency for intercourse excised and the ovaries are left in place so that the and no need for lubrication. None of our patients patient does not require exogenous hormone replace- have experienced excessive mucus production. ment. The patient can also harvest ova for in vitro fertilization using a surrogate mother if she desires. A 10- to 15-cm segment of sigmoid colon is then iso- 35.7 Cloacal Anomalies lated, preserving the blood supply. One end is closed in two layers to form the vertex of the neovagina, and If a persistent urogenital sinus is associated with an the other end is left open to act as the neovaginal ori- anorectal malformation the patient has a cloacal fice. The continuity of the colon is reestablished. The anomaly. This involves all three systems joining in

Fig. 35.5 Technique of colovagi- noplasty. A Isolation of 10–15 cm of sigmoid colon. B The segment is positioned to anastomose to the hymenal ring. C The colocolostomy is completed. D The completed vaginoplasty is loosely packed with Vaseline gauze 35 Vaginal Reconstruction for Congenital and Acquired Abnormalities 447

acute setting followed by resection of the septum and perineal vaginal pull-through.

35.9 Summary

A large spectrum of anatomical vaginal abnormali- ties has been presented and an equally large spectrum Fig. 35.6 Experience with intestinal vaginoplasty. TFS Testicu- of surgical procedures has been reviewed. Thorough lar feminization syndrome, Rhabdo rhabdomyosarcoma, MGD evaluation of the anatomy of a newborn with ambigu- Mixed gonadal dysgenesis ous genitalia, persistent urogenital sinus, vaginal atre- sia, or cloaca is required before deciding which type of surgical correction is necessary. Indications for to- tal replacement with a colovaginoplasty include total a common channel. The appearance externally is a vaginal agenesis, as in the case of Mayer-Rokitansky closed perineum with a single opening. A low com- syndrome, and absence of a uterus and proximal va- mon channel is not usually associated with urinary gina, as in the case of TFS. A cloacal anomaly may obstruction, and a perineal vaginoplasty and pull- require total replacement in the form of an intestinal through anoplasty are adequate. A medium or long vaginoplasty, usually utilizing a portion of the small common channel is usually associated with urinary bowel. Complex reconstructions like a Passerini cli- obstruction, and surgical correction is more complex. torovaginoplasty are indicated for the highly virilized In the medium-length channel (2–4 cm), urogenital adrenogenital syndrome patient or a patient with a mobilization is adequate for vaginal reconstruction. persistent urogenital sinus with a very high insertion In the long-channel variety (> 4 cm), an intestinal of the vagina. vaginoplasty is needed.

References 35.8 Congenital Vaginal Obstruction 1. Baldwin JF (1904) The formation of an artificial vagina by Other forms of vaginal obstruction include imperfo- intestinal transplantation. Ann Surg 40:398–403 rate hymen, labial fusion, and high transverse vaginal 2. Borruto F (1992) Mayer-Rokitansky-Kuster syndrome: septum. Presentation can be similar for all forms of Vecchietti’s personal series. Clin Exp Obstet Gyencol obstruction and patients often have a lower abdomi- 19:273–274 nal mass on examination. They can also present with 3. Bowman JA Jr, Scott RB (1954) Transverse vaginal sep- urinary tract obstruction. With an imperforate hy- tum; report of four cases. Obstet Gynecol 3:441–446 men, the patient can present with at birth 4. Fall FH (1940) A simple method for making an artificial or early infancy, or hydrometrocolpos at puberty. A vagina. Am J Obstet Gynecol 40:906–917 bulging mass is seen on the perineum in the newborn 5. Graziano K, Teitelbaum DH, Hirschl RB, et al. (2002) Vaginal reconstruction for ambiguous genitalia and con- and this can often be opened using a hemostat. genital absence of the vagina: a 27 year experience. J Pedi- Labial fusion can present in one of two ways: atr Surg 37:955–960 1. A primary skin bridge may be present and these 6. Hendren WH, Crawford JD (1969) Adrenogenital syn- patients can present with urinary tract infections; drome: the anatomy of the anomaly and its repair. Some division may require anesthesia new concepts. J Pediatr Surg 4:49–58 2. Synechiae may be seen in girls typically between 7. Hendren WH, Donahoe PK (1980) Correction of congen- 1–5 years of age. This may due to chronic irrita- ital abnormalities of the vagina and perineum. J Pediatr tion or relative lack of stimulation. The Surg 15:751–763 membrane can be divided in an outpatient setting 8. Hendren WH, Atala A (1994) Use of bowel for vaginal re- but may recur. It is useful to apply cream daily to construction. J Urol 152:752–755 the area post correction. 9. Hensle TW, Reiley EA (1998) Vaginal replacement in chil- A high transverse vaginal septum is a rarer form of dren and young adults. J Urol 159:1035–1038 vaginal obstruction and can be associated with par- 10. Hilgers RD, Malkasian GD Jr, Soule EH (1970) Embryonal tial anterior vaginal agenesis or persistence of a com- rhabdomyosarcoma (botryoid type) of the vagina. Am J mon urogenital sinus [3]. Treatment is drainage in the Obstet Gynecol 107:484–502 448 Arnold G. Coran and Kathleen Graziano: Vaginal Reconstruction for Congenital and Acquired Abnormalities

11. Martelli H, Oberlin O, Rey A, et al. (1999) Conservative 14. Pratt JH (1972) Vaginal atresia corrected by the use of treatment for girls with nonmetastatic rhabdomyosar- small and large bowel. Clin Obstet Gynecol 59:639–649 coma of the genital tract: a report from the Study Com- 15. Stenchever MA, Droegemuller W, Herbst AL, Mishell DR mittee of the International Society of Pediatric Oncology. (eds) (2001) Comprehensive Gynecology, 4th edn. Mosby, J Clin Oncol 147:2117–2122 St. Louis 12. McIndoe AH (1950) Treatment of congenital absence 16. Therrell BL Jr, Berenbaum SA, Manter-Kapanke V, et al. and obliterative conditions of the vagina. Br J Plast Surg (1998) Results of screening 1.9 million Texas newborns 2:254–267 for 21-hydroxylase deficient congenital adrenal hyperpla- 13. Passerini-Glazel G (1989) A new 1-stage procedure for sia. Pediatrics 101:583–590 clitorovaginoplasty in severely masculinized female pseu- 17. Wesley JR, Coran AG (1992) Intestinal vaginoplasty dohermaphrodites. J Urol 142:565–568 for congenital absence of the vagina. J Pediatr Surg 27:885–889