Congenital anomalies of the hymen and vagina

INTRODUCTION — Development of the female genital tract is a complex process that is dependent upon a series of events involving cellular differentiation, migration, fusion, and canalization. Failure of any one of these processes results in a congenital anomaly.

Anomalies of the hymen and vagina may interfere with menstruation, sexual activity, fertility, or childbirth. These typically present after puberty, but are discovered during the neonatal period in some infants.

The diagnosis and management of congenital anomalies of the vagina and hymen will be reviewed here. Congenital cervical and uterine anomalies are discussed separately. (See "Benign cervical lesions and congenital anomalies of the cervix" and "Congenital uterine anomalies: Clinical manifestations and diagnosis".)

EMBRYOLOGY — The development of the female genital tract begins at three weeks of embryogenesis and continues into the second trimester of pregnancy.

Multiple integrated steps are required for normal development of the female genital tract; several key points are worthy of emphasis:

●The development of the gonads occurs independent from that of the genital tract; therefore, individuals with congenital uterovaginal anomalies may have normal ovaries with normal hormonal production.

●The formation of the reproductive tract is closely associated with the development of the urinary system, thus genital tract anomalies are often associated with anomalies of the kidneys, ureters, or bladder.

●Disruption of normal embryologic processes of the müllerian ducts, such as agenesis, failure of lateral fusion, or failure of canalization, results in development of the various congenital anomalies of the female reproductive tract.

Gonads — Gonadal development results from migration of primordial germ cells to the genital ridge. At five weeks, the gonads are identical in both sexes and capable of differentiating into either an ovary or testis. The type of gonad that will develop depends upon the chromosomal sex. The first sign of ovarian differentiation is the absence of Sertoli cells at 6 to 7 weeks of gestation; the ovarian primordial follicles are identifiable after 13.5 weeks [1]. (See "Typical sex development".)

Kidney — The female genital tract is derived from the müllerian ducts, urogenital sinus, and vaginal plate. Initially during the indifferent stage, male and female embryos have both mesonephric (Wolffian) and paramesonephric (müllerian) ducts (figure 1 and figure 2). The paired mesonephric ducts connect the mesonephric kidneys to the cloaca. At approximately five weeks, the ureteric bud, a dorsal outgrowth of the mesonephric duct, stimulates the differentiation of the metanephros. The metanephros eventually becomes the functional kidney, while the mesonephros degenerates at approximately 10 weeks of gestation. (See "Renal agenesis: Prenatal diagnosis", section on 'Pathogenesis'.)

Uterus and fallopian tubes — The müllerian ducts are first identifiable at approximately six weeks of gestation when they begin to elongate caudally and cross the metanephric ducts medially to meet in the midline. By the seventh week, the urorectal septum has developed and separates the rectum from the urogenital sinus. Around 12 weeks, the caudal portion of the müllerian ducts fuse to form the uterovaginal canal, which inserts into the dorsal wall of the urogenital sinus at Müller tubercle. The two müllerian ducts are initially composed of solid tissue and lie side by side. Subsequently, internal canalization of each duct produces two channels divided by a septum that is reabsorbed in a cephalad direction by 20 weeks. Classic teaching has been that the cranial, unfused portions of the müllerian ducts develop into the fimbria and fallopian tubes, while the caudal, fused portions form the uterus and upper vagina (figure 3). However, subsequent findings have shown that the distal end of the fallopian tube is most likely not of müllerian origin [2].

Vagina — The sinovaginal bulbs are two solid evaginations originating in the urogenital sinus at the distal aspect of the müllerian tubercle. The sinovaginal bulbs proliferate into the caudal end of the uterovaginal canal to become a solid vaginal plate. The lumen of the lower vagina is then formed by degeneration of the central cells of this vaginal plate, which occurs in a cephalad direction. Canalization is typically complete by 20 weeks.

Hymen — The vaginal lumen is separated from the urogenital sinus by the hymenal membrane. The hymen usually ruptures before birth due to degeneration of the central epithelial cells. However, a thin fold of mucous membrane persists around the vaginal introitus.

CLASSIFICATION — There is no universally accepted classification system for anomalies of the reproductive tract, which is problematic because such a system would allow physicians to codify the symptomatology, treatment, and outcome of affected patients and more accurately compare their research data with that of others [3].

●The American Society for Reproductive Medicine's [ASRM] classification system for müllerian defects (figure 4A-B) has been the standard in the United States for decades [4,5]. In 2021 the ASRM did an extensive revision of the system which incorporates variations that were previously excluded [4]. When a congenital uterine anomaly is documented, associated anomalies of the vagina, cervix, fallopian tubes, and renal system should also be identified and documented.

●The European Society of Human Reproduction and Embryology (ESHRE) and the European Society for Gynaecological Endoscopy (ESGE) have published their own classification system (figure 5A-B) [6].

●Other classification systems have been also been proposed to further clarify the vast array of complex anomalies, and include Acien's classification (table 1), and Congenital Uterine Malformation by Experts [7].

CLINICAL APPROACH — Anomalies of the hymen and/or vagina may present as an incidental finding on a routine physical examination or imaging study for another indication or as a patient complaint. Depending on the symptoms, patients may present to a primary care provider, emergency department evaluation, or with a specialist. When patients are symptomatic, the complaints can vary from chronic pain, back pain, cyclic pain, amenorrhea, irregular menses, prolonged menses, vaginal discharge, pelvic inflammatory disease, dyspareunia, and/or infertility. Individuals with known renal, spinal, cardiac, anorectal, or abdominal wall anomalies are associated with uterovaginal anomalies.

It is thus not uncommon that a patient having an ultrasound for evaluation of a renal anomaly is also found to have an anomaly of the reproductive tract since both the kidneys and genital tract derive from the urogenital ridge. In addition, the ability to identify an anomaly may depend on the age and pubertal status of the individual.

If an anomaly is asymptomatic and presents during the prepubertal period, it may be recommended that the patient return after the onset of breast development as the presence of estrogen may assist in making a definitive diagnosis. Estrogenization will increase the size of the uterus and allow it to be more accurately evaluated. Also, prior to puberty, imaging may be misleading [8].

Even when symptomatic, time should be taken to develop the correct diagnosis with a combination of history, physical findings, and imaging. A determination of an obstructive anomaly is not an emergency unless the patient is febrile (obstructed blood is infected) or is unable to urinate. If the patient is unable to urinate, a bladder catheter should be placed until a definitive diagnosis and plan is formulated. Pain can be managed with medications until an appropriate treatment plan can be implemented with an experienced surgeon. In addition, we have found it helpful to educate and introduce a patient to the use and need of vaginal dilators preoperatively in an office-based environment as opposed to postoperatively. If the patient declines to be compliant with the use of postoperative dilators, then menstrual suppression can be initiated in order to delay the surgery and need for dilators.

EPIDEMIOLOGY — The incidence of anomalies of the vagina is unknown; the prevalence of vaginal agenesis is commonly stated to be 1 in 5000 live born females [9,10].

ANOMALIES OF THE HYMEN — The hymenal membrane consists of fibrous connective tissue attached to the vaginal wall. Hymenal anomalies are derived from incomplete degeneration of the central portion of the hymen. These anatomic variants include imperforate, microperforate, septate, and cribriform hymens (figure 6).

Symptoms of hymenal anomalies depend upon whether the obstruction is complete or partial. With complete obstruction (imperforate hymen), the patient will have primary amenorrhea and may also have pain due to the obstructed hematocolpos (blood-filled vagina).

In all types of hymenal anomalies, there may be accumulation of blood or mucus in the upper vagina. This may result in ascending infection.

The diagnosis is made on pelvic examination with visualization of the hymen. Translabial or transperineal ultrasound (transducer placed at the level of the labia/vaginal orifice) may be used to differentiate between hymenal and vaginal anomalies.

Imperforate hymen — An imperforate hymen is one of the most common obstructive lesions of the female genital tract (picture 1).

Diagnosis of an imperforate hymen may be made in neonates if a bulging introitus is noted at birth (picture 2). The bulging is due to a mucocolpos from vaginal secretions due to stimulation by maternal estradiol. If the diagnosis is not made in the newborn period and the hymen remains imperforate, the mucus will be reabsorbed and the child usually remains asymptomatic until menarche.

At the usual age of menarche, the adolescent girl may present with amenorrhea (sometimes referred to as crypto-menarche), cyclic abdominal or pelvic pain, and hematocolpos, which may give the hymenal membrane a bluish discoloration. Marked distension of the vagina may also result in back pain, pain with defecation, or difficulties with urination.

On examination, there is typically a bulging obstruction of the vagina. It is important that the clinician does not assume that all bulging obstructive anomalies of the vagina are an imperforate hymen as the differential diagnosis also includes agenesis of the lower vagina and a low transverse vaginal septum (both of which are managed with different surgical procedures).

The diagnosis can be confirmed with the use of a translabial or transperineal ultrasound to determine the distance from the obstruction to the level of the normal location of an introitus. If there is a thin structure (several millimeters) obstructing the introitus, then it is most likely the membrane of an imperforate hymen. But if obstructing structure is thicker, the diagnosis is not an imperforate hymen.

Treatment — Repair of an imperforate hymen can be performed at any age; however, the repair is facilitated if the tissues have undergone estrogen stimulation. Therefore, surgery is ideal in the neonatal period or postpubertal/premenarchal period (there is usually a two- to three-year window from the onset of breast development to the first menstrual period). As not to miss a diagnosis agenesis of the lower vagina or low transverse vaginal septum, surgery may be preferred around menarche rather than the neonatal period, so that the mucosa has time to reabsorb and a definitive diagnosis can be made.  

Surgical repair, performed under anesthesia, consists of an elliptical incision in the membrane close to the hymenal ring (figure 7) followed by evacuation of the obstructed material. During dissection, if the tissue to reach the obstruction is thicker than anticipated, the diagnosis of imperforate hymen should be reconsidered and other diagnoses (eg, agenesis of the lower vagina, low transverse vaginal septum) should be considered.

The thin membrane of the extra hymenal tissue is excised using electrocautery to create a normal size orifice, and the vaginal mucosa is sutured to the hymenal ring using 3-0 or 4-0 vicryl or chromic suture to prevent adhesion and recurrence of the obstruction. A simple incision and drainage is not adequate treatment as it may not permit complete egress of the built up menstrual blood and may lead to an ascending infection due to ascending bacteria infecting the remaining blood in the vagina, uterus, and/or fallopian tubes.

Incomplete hymenal fenestration — Partial obstruction of the hymen is referred to as incomplete fenestration of the hymenal opening and the pattern of obstruction varies, including: microperforate, septate, or cribriform (figure 6).

Incomplete fenestration is often asymptomatic. Patients may seek gynecologic evaluation because of inability to insert tampons, difficulty removing an inserted tampon (it is able to be inserted, but once it expands with blood products it cannot easily be removed), douches, or vaginal creams, or because of difficulty with coitus. In addition, patients with microperforate hymens may present with malodorous discharge due to partial obstruction and poor drainage. If the menstrual products or vaginal secretions are not fully evacuated from the vagina, the retained blood may become infected and lead to tubo-ovarian abscess or systemic infection [11].

Treatment of microperforate, septate, and cribriform hymens involves resection of the excess hymenal tissue to create a normal-diameter hymenal ring, as described for imperforate hymen. The excess hymenal tissue is excised with the use of electrocautery and interrupted sutures are placed to reapproximate the tissue.

ANOMALIES OF THE VAGINA — Anomalies of the vagina may be associated with other genital tract anomalies or with extragenital abnormalities, particularly of the urinary tract.

Vaginal agenesis, also known as müllerian agenesis or Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, is the congenital absence of the vagina with variable uterine development and, thus, is the most severe vaginal anomaly. Extragenital tract abnormalities are also often present.

Vaginal anomalies may present with primary amenorrhea, cyclic pelvic or abdominal pain, or difficulty with tampon insertion or coitus. Marked distension of the vagina may also result in back pain, pain with defecation, or difficulties with urination.

The diagnosis of vaginal anomalies is made on examination of the vagina. Pelvic or renal ultrasound may be needed to assess the upper genital or urinary tracts. Further evaluation with magnetic resonance imaging is required in some cases.

Transverse vaginal septum — A transverse vaginal septum results when there is failure of fusion and/or canalization of the urogenital sinus and müllerian ducts, which occurs in approximately 1 in 30,000 to 1 in 80,000 females [12]. These septa may be located at various levels in the vagina (figure 8); reports vary widely regarding distribution by location, including 6 to 46 percent in the upper vagina, 22 to 40 percent in the middle portion, and 15 to 72 percent in the lower vagina [13,14].

The septa are generally less than 1 centimeter in thickness and may have a small central or eccentric perforation (figure 9A-C) [15]. The majority of transverse vaginal septa have a fenestration and are thus not completely obstructed.

Clinical presentation — Children may present with mucocolpos, whereas adolescents may develop a mucocolpos, hematocolpos (figure 10), or pyohematocolpos due to an ascending infection through the small perforation.

Evaluation and treatment — On pelvic examination, the external genitalia appear normal, but on bimanual or speculum examination, the lower vagina is shortened and the upper vagina or cervix cannot be visualized. A mass may be palpated above the examining finger on rectoabdominal examination.

Ultrasonographic imaging helps to define the location and thickness of the septum and the distance from the obstructing tissue to the level of the introitus. Ultrasound or magnetic resonance imaging (MRI) can be helpful to differentiate between a high septum versus congenital absence of the cervix.

For treatment, a small, thin septum can be primarily resected, followed by an end-to-end anastomosis of the upper and lower vaginal mucosa.

A thick septum is more difficult to excise and repair and has a higher risk of restenosis and obstruction. Excision should be attempted only by surgeons experienced with this procedure. Primary anastomosis is easier if the upper vagina has been distended with menstrual blood products, as this acts as a natural tissue expander to increase the amount of upper vaginal tissue available for the anastomosis. In addition, preoperative use of vaginal dilators may help to thin the septum and facilitate the anastomosis [16]. A Z-plasty technique can be used to prevent circumferential scar formation [17]. (See "Z-plasty".)

In the postoperative period, patients need teaching on how to utilize vaginal dilators to assist with healing and avoid scar tissue formation and stenosis. The risk of restenosis is high. As an example, a case series of 46 patients at a specialist unit included 14 (30 percent) patients with recurrent vaginal obstruction after previous repair [14].

In terms of outcomes, in a retrospective cases series of 46 patients with transverse vaginal septa, follow-up found that 22 of 23 patients were menstruating and one had a hysterectomy, 74 percent had been sexually active, 35 had dyspareunia, and 36 percent had dysmenorrhea. There were seven pregnancies and six live births [14].

Obstetric management of unresected septa varies. Approximately 36 pregnancies have been reported in patients with transverse septa [14,18]. One-half had planned cesarean delivery, most of the rest had incision or instrumental dilation during labor, and a few underwent excision prior to pregnancy.

Longitudinal vaginal septum — Longitudinal septa are typically associated with uterine anomalies, such as septate uterus and uterus didelphys (figure 5B) [19,20]. The septum that divides the vagina may be partial or complete. (See "Congenital uterine anomalies: Clinical manifestations and diagnosis".)

Clinical presentation — The patient may note difficulty inserting tampons, persistent bleeding despite tampon placement (need to use a pad in addition to a tampon), tearing of the septum with placement of a tampon or with coitus, and/or dyspareunia (she may note that with vaginal intercourse with a penis, that the penis goes to the right or left as it may preferentially enter one side over the other based on whether one side may be congenitally larger than the other). Patients may also be asymptomatic.

Evaluation and treatment — On physical examination a longitudinal vaginal septum will be able to be visualized as a fibrous structure dividing the vagina in half. The septum can involve the entire vagina or a part of the vagina. A single finger internal examination is helpful in making the diagnosis. A narrow speculum may be used if tolerated by the patient.

Evaluation should include imaging of the upper reproductive tract to determine if there is a single uterus or two uterine structures. Imaging should also determine if there is a single cervix or two cervixes with one at the apex of each vagina. This can be accomplished with two-dimensional ultrasound, three-dimensional ultrasound, or MRI. We typically utilize two-dimensional ultrasound to define the uterine and cervical structures and rely on three-dimensional ultrasound or MRI if the diagnosis is not clear with the two-dimensional imaging. (See "Congenital uterine anomalies: Clinical manifestations and diagnosis", section on 'Diagnostic tools'.)

Surgery is not required in asymptomatic patients with a longitudinal vaginal septum, but will facilitate vaginal delivery.

Treatment involves complete resection of the septum, with care to avoid compromise to the bladder and rectum. The septal tissue should be excised in total as retained fragments of septum may cause dyspareunia. The septal tissue is resected by wedging out the fibrous septum, and then the normal mucosa from each vagina is sutured together over the defect created by the resection.

Obstructed hemivagina — An obstructed hemivagina may be associated with ipsilateral renal agenesis or renal anomalies (horseshoe kidney, duplication, ectopic ureter). It may also be associated with a single uterus or two uteri, and two cervices are typically present (figure 11 and figure 12). (See "Overview of congenital anomalies of the kidney and urinary tract (CAKUT)".)

Clinical presentation — The patient may have pain, purulent vaginal discharge from microcommunication from the obstructed side to the nonobstructed vagina and, rarely, cyclic peritonitis.

Evaluation and treatment — The diagnosis is made by history and physical examination, combined with appropriate imaging (typically MRI); diagnostic laparoscopy is usually not necessary [21]. Associated renal anomalies (duplex kidney, horseshoe kidney, pelvic kidney, unilateral renal agenesis) may be identified but do not require further evaluation or referral to a urologist if the patient is asymptomatic. For patients with an ectopic ureter, urologic evaluation and management are beneficial.

Patients with an obstructed hemivagina require surgical correction due to pain, increased risk of infection, and retrograde menses with risk of endometriosis. During the procedure, the obstructed vagina is entered, the fluid is drained, and then the vaginal tissue between the two vaginas is resected. Great care is taken to avoid the bladder, rectum, and the cervixes. The two cervixes may be at different levels; therefore, the tissue between them should be left in place so as not to compromise their blood supply.

The surgery can be performed as a single operation, and in our experience, this is possible in the vast majority of patients [21]. Alternatively, some surgeons prefer to drain the obstructed vagina by the creation of a "window" with a second operation performed at a later time after the inflammation and distention have resolved.

Vaginal agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome) — Vaginal agenesis, also known as müllerian agenesis or Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, refers to congenital absence of the vagina with variable uterine development. It results from agenesis or hypoplasia of the müllerian duct system, although the underlying etiology remains unknown (figure 3). A genetic analysis of MRKH syndrome in a large cohort of families showed that the prevalence of WNT3, HNF1B, and LHX1 point mutations is low in people with MRKH; the prevalence of copy number variants was approximately 19 percent [22].

The most commonly cited prevalence for vaginal agenesis is 1 in 5000 (range 1 per 4000 to 10,000 females) [9,10]. It is usually accompanied by cervical and uterine agenesis; however, 7 to 10 percent of such patients have functional endometrium within either a uterus that is obstructed, but otherwise structurally normal, or a rudimentary uterine horn (figure 13 and figure 14), while as many as 25 percent have cavitated müllerian remnants [23-26]. In one large series, ovaries were normal in 78 percent of affected patients, 16 percent had extra-pelvic ovaries, and 6 percent had unilateral hypoplastic ovaries [25]. In other large series, renal comorbidities have varied with reports of 5.1 percent [27], 28.8 percent [28], and 34.2 percent having associated renal malformations [10].

In addition, patients often exhibit extragenital anomalies. Approximately 25 to 50 percent have urologic anomalies, such as unilateral renal agenesis, pelvic or horseshoe kidneys, or irregularities of the collecting system [29-31], and 10 to 15 percent have skeletal anomalies involving the spine, ribs, and extremities [29,32]. Other less common anomalies include congenital heart lesions, abnormalities of the hand, deafness, cleft palate, and inguinal or femoral hernias [29,33]. (See "Overview of congenital anomalies of the kidney and urinary tract (CAKUT)".)

Clinical presentation — Patients with MRKH have a normal female karyotype with normal ovaries and ovarian function, thus they develop normal secondary sexual characteristics (eg, breast development, axillary hair, and public hair). They often present with primary amenorrhea at 15 to 17 years of age. In fact, vaginal agenesis is the second most common cause of primary amenorrhea, after gonadal dysgenesis [34]. Most patients have a rudimentary nonfunctioning uterus, but 2 to 7 percent have a uterus with functioning endometrium and may present with cyclic or chronic abdominopelvic pain secondary to hematocolpos, hematometra, hematosalpinx, or endometriosis [32,35]. (See "Evaluation and management of primary amenorrhea".)

Evaluation — On physical examination, the external genitalia are normal. A vaginal "dimple" or small pouch is typically seen; hymenal tissue is usually present, as the vaginal pouch and hymen are both derived from the urogenital sinus, not the müllerian duct. Rectoabdominal examination is helpful to determine the presence or absence of the vagina, cervix, and uterus.

Ultrasound examination should be performed to assess the kidneys and confirm the presence of ovaries and whether a uterus is present. Possible ureteral duplication can be determined by intravenous pyelography, if indicated. We typically utilize a two-dimensional ultrasound to determine if there is a midline uterus or uterine horns/hemiuteri/rudimentary uteri. If the patient has pain and the ultrasound shows hemiuteri without an endometrial stripe, then MRI may be useful for determining whether functional endometrium is present.

Differential diagnosis of vaginal agenesis includes androgen insensitivity, low transverse vaginal septum, agenesis/atresia of the uterus and vagina, and imperforate hymen. (See "Pathogenesis and clinical features of disorders of androgen action".)

Overview of treatment — First-line treatment for vaginal agenesis is nonsurgical, with use of vaginal dilators. Surgical creation of a neovagina is also an option; however, there is no consensus across specialties (ie, gynecology, pediatric urology, pediatric surgery, plastic surgery) on the ideal method for creation of a functional vagina [36].

Nonsurgical treatment with self-dilation is recommended by the American College of Obstetricians and Gynecologists [37]. This nonsurgical option is highly successful with excellent patient satisfaction [38]. Large series have shown high levels of achieving functional success with the use of vaginal dilators [39,40]. Functional success was defined as the ability to have sexual intercourse, vaginal acceptance of the largest dilator without discomfort, or a vaginal length of 6 [40] or 7 cm [39].

Surgery may be appropriate if nonsurgical therapy fails or, if after extensive counseling, a patient elects a surgical approach. The patient should be made aware that with any of the surgical procedures a vaginal dilator is usually also needed pre- or postoperatively.

Historically, the most commonly performed surgery by gynecologists was the McIndoe vaginoplasty, and data from over 1200 patients show a high success rate (92 percent) [41]. Less invasive laparoscopic surgery, as in the modified Vecchietti or Davydov procedures, are now a more widely accepted option; however, more data about results and long-term complications are needed [42-46]. Ultimately, the best surgical option is dependent upon the experience of the attending surgeon and the patient's preference based upon the advantages and disadvantages of each procedure.

The timing for nonsurgical and surgical creation of a vagina should be individualized to the patient. Treatment involves a combination of psychosocial support and correction of the anatomic abnormality. The psychologic aspects of a new diagnosis of vaginal agenesis can be overwhelming for any patient, especially an adolescent. Emotional support and counseling and psychologic preparation before treatment play critical roles in the resolution of this condition [47-49]. Patient education and support is important and can be found online at the Center for Young Women's Health and at Beautiful You MRKH Foundation.

Symptoms of urinary and anal incontinence may improve after nonsurgical or surgical vaginal lengthening procedures [50]. A normal sex life is also possible after creation of a neovagina [47,51,52]. Although the patient will be unable to carry a pregnancy, her eggs may be harvested for achieving pregnancy with a gestational carrier. Another option is that of uterine transplantation [53,54]. (See "Uterus transplantation for absolute uterine factor infertility: Ethics, patient selection, and consent".)

Appropriate educational materials for the patient are very important. Updated patient information is available at www.beautifulyoumrkh.org, and www.youngwomenshealth.org.

Nonsurgical treatment — The major advantage of a nonoperative approach is avoidance of surgery with its potential complications [55]. Although some patients feel very uncomfortable with the concept of using dilators and elect for surgical management, preoperative education is key as dilators are usually required with most surgical interventions. Not all providers are experienced in teaching a patient how to pursue or implement dilator therapy, and thus referral to an experienced provider in a center with a high rate of success is appropriate.

●Frank and Ingram procedures – A common nonoperative approach to creating a functional vagina uses vaginal dilators (ie, the Frank procedure or Ingram modification) and is highly successful [38,40,56,57]. Graduated hard dilators are placed against the vaginal dimple and pressure is applied to progressively invaginate the mucosa. Initially, the smallest dilator (or a small pediatric blood drawing tube) is pressed firmly against the vaginal dimple daily for at least a half an hour after a warm bath. The adolescent should insert the tube downward and inward in the line of the normal vaginal axis and apply enough pressure to produce mild discomfort, but not pain. The time necessary to create a vagina varies, ranging from four months up to several years, depending upon the patient's compliance. The Ingram modification of the Frank procedure involves the use of a bicycle seat mounted on a stool to create pressure for vaginal dilation [58].

A review including 334 patients who underwent dilator therapy reported 86 percent were able to achieve satisfactory intercourse [57].

Alternatively, repetitive coitus (with the penis acting as a dilator) has been utilized by patients to create a functional vagina either without prior knowledge of the diagnosis or with knowledge of the diagnosis [59].

Surgical treatment — Surgery is an option for patients who have been unsuccessful with dilators or who prefer surgery after a thorough discussion of the advantages and disadvantages of the different techniques. It is extremely important that the patient be aware that with the surgical procedures she will still need to utilize a vaginal dilator in the postoperative period so as to avoid stricture or stenosis. The following procedures are all options for creation of a functional vagina, and based on the lack of long-term follow-up data or comparative long-term outcome studies, there are no data to support the preference of one operation over another. Each procedure has advantages and disadvantages, and there is no "perfect" option.

●McIndoe procedure – The McIndoe procedure, which is often used by gynecologists, utilizes a split-thickness skin graft from the buttocks [60]. Use of artificial skin products has been reported for this procedure, thus eliminating the need for a donor skin graft site [61]. A skin graft is placed over a mold, dermal side out, and sewn together to form a tube with one closed end. A transverse incision is made at the vaginal dimple and a cavity is dissected to the level of the peritoneum. The mold and skin graft are then inserted, and the labia minora are secured around the stent to prevent expulsion. The patient must remain on absolute bed rest and on a low-residue diet for seven days, after which the stent is removed. Postoperatively, a vaginal dilator must be used continuously for three months and then at night for six additional months to prevent contraction of the vagina [62].

Patients must be sufficiently motivated to comply with the strict postoperative regimens necessary to guarantee a successful procedure, thus timing surgery according to the individual's readiness for vaginal manipulation and/or intercourse is critical. Over 80 percent of patients report satisfactory sexual relationships and vaginal intercourse (ie, the functional success rate) after this surgery [63-66]. Complications, which occur in 5 to 10 percent of procedures, include graft failure, postoperative hematoma, rectal perforation, and fistula formation. The most important factor associated with a higher complication rate is a history of prior vaginal or perineal surgery.

●Williams vaginoplasty – The Williams vulvovaginoplasty involves the creation of a vaginal pouch. A horseshoe-shaped incision is made on the perineum and full-thickness skin flaps from the labia majora are used to create a kangaroo-like pouch, which is horizontal to the perineum [67]. A vaginal dilator is then used daily for three to four weeks postoperatively. Although this technique is a simpler alternative to the McIndoe procedure, it is not usually performed as the vaginal pouch is only approximately 4 to 5 cm in length and positioned at an unusual angle for coitus [32,65]. Modifications of this procedure that attempt to avoid these problems have been described [68].

●Sigmoid vaginoplasty – Another option is to use a segment of sigmoid colon for vaginoplasty, a procedure performed by some pediatric surgeons and urologists [69-72]. One end of the resected segment is pulled down to the introitus to form a neovagina, and the other end is closed to create a blind pouch. An end-to-end reanastomosis is performed to recreate a patent gastrointestinal tract. The advantage of this procedure over the McIndoe is that dilators may not be needed, although stenosis may occur at the anastomotic sites. The disadvantages are that patients complain of chronic vaginal discharge and foul odor. In addition, there is a risk of diversion colitis, inflammatory bowel disease, and adenocarcinomas in these grafts [70,73,74].

●Vecchietti or modified Vecchietti procedure – Classically, the Vecchietti operation was an abdominal procedure performed through a Pfannenstiel skin incision [75]; however, it has been modified to a laparoscopic approach [76-78]. There are limited data as this is a relatively new technique [77]. In a retrospective case series, at one year postoperatively, 98 percent of patients reported functional success [42]. Vaginoscopic examination of patients up to 12 months after the laparoscopic Vecchietti operation revealed neovaginal mucosae comparable to normal vaginal mucosa [79].

The procedure involves creation of a neovagina by invagination using an acrylic "olive" that is placed against the vaginal dimple. This olive is attached to a traction device that rests on the abdomen by subperitoneal sutures placed laparoscopically. Sufficient traction is applied to the olive to produce 1.0 to 1.5 cm of invagination per day, thereby creating a neovagina in approximately seven to nine days. Once the neovagina has been created, active dilation is required until regular sexual activity is initiated.

A prospective case series reported that a modification of technique (using blunt vaginoabdominal perforation of the vaginal dimple rather than sharp abdominovaginal dissection or tunneling of the vesicorectal space) and a new traction device significantly decreased operative time, perioperative complications, and traction time, with a trend toward improvement in functional results [80].

One advantage of this technique over the Frank procedure is that uninterrupted traction is applied. In addition, prolonged hospitalization is not necessary as the traction can be completed as an outpatient. One study of 52 patients reported 100 percent anatomic success and 98.1 percent functional success [76]. However, this is a relatively new technique with limited data available [77].

●Davydov procedure – Another laparoscopic approach is an adaptation of the Davydov procedure. The Davydov technique is a three stage surgery that includes dissection of the rectovesical space, abdominal mobilization of the peritoneum to create the vaginal fornices, and attachment of the peritoneum to the introitus [81]. The laparoscopic approach closes the abdominal end of the neovagina with a purse-string suture. In one study, 27 of 324 patients who underwent this procedure had laparoscopically-assisted surgery [82]. The success rates were similar for both the laparoscopically-assisted and traditional approaches; however, the laparoscopically assisted operation resulted in shorter operating times, lower intraoperative complications, shorter hospital stays, and no external scars. Postoperatively, sexual function (composite score for desire, arousal, lubrication, orgasm, satisfaction, pain) approaches that of matched controls without gynecologic disorders [51].

Agenesis of the lower vagina — Absence of the lower vagina occurs as a result of abnormal development of the sinovaginal bulbs and vaginal plate (figure 9C and figure 10). The ovaries, uterus, cervix, and upper vagina are normal, while the lower vagina is replaced by fibrous tissue.

Clinical presentation — Adolescents typically present with primary amenorrhea accompanied by cyclic pelvic pain.

Evaluation and treatment — A vaginal dimple may be noted on external inspection. Since these girls have normal cyclic pituitary-ovarian-endometrial function at menarche, the upper vagina will distend with blood products and secretions, which can be palpated as a mass on rectoabdominal examination. Ultrasound and MRI may be used to help define the presence of a uterus, cervix, and upper vagina. A translabial ultrasound will assist in determining the distance from the introitus to level of the obstruction.

The treatment is surgical. The optimal timing of the procedure is when a large hematocolpos is present, as the distention helps to increase the amount of vaginal tissue available for a pull-through procedure.

Initially, a transverse incision is made where the hymenal ring should be located. The dissection is carried out through the fibrous tissue until the upper vagina is reached and the obstruction can be drained. The vaginal mucosa is then identified and brought down to the introitus, where it is sutured to the hymenal ring. This permits normal sexual and reproductive function (figure 15). The greater the distance from the level of the introitus, the higher the risk of restenosis and complication [83].

VAGINAL CYSTS — Cysts from müllerian remnants, epidermal inclusions, or Gartner duct (Wolffian remnant) usually form on the lateral or posterior vaginal walls [84-86]. A vaginal cyst may present in adolescence because of difficulty inserting a tampon or dyspareunia, but many are asymptomatic. Most can be treated by excision, although it may be safer to simply marsupialize deep cysts to avoid significant bleeding.

Anterior wall masses may be vaginal wall cysts, but urethral diverticula are more common at this location. Other disorders that should be considered are leiomyoma, ectopic ureter, and vaginal cancer [87]. In rare cases, a Gartner duct cyst may communicate with an ectopic ureter [88]. For this reason, imaging of the urinary tract is indicated prior to excision of a vaginal wall mass in a patient with congenital urinary tract anomalies or unexplained leakage of urine. (See "Urogenital tract fistulas in females" and "Urethral diverticulum in females".)

SOCIETY GUIDELINE LINKS — Links to society and government-sponsored guidelines from selected countries and regions around the world are provided separately. (See "Society guideline links: Congenital female reproductive tract anomalies".)

SUMMARY AND RECOMMENDATIONS

●Classification – Development of the female genital tract is a complex process dependent upon a series of events and failure of any one of these processes results in a congenital anomaly. The American Society for Reproductive Medicine’s classification system for müllerian defects is shown in the figure (figure 4A-B). (See 'Introduction' above and 'Classification' above.)

●Embryology

•The development of the female genital tract begins at three weeks of gestation and continues into the second trimester of pregnancy (figure 2). The development of the gonads occurs independent from that of the genital tract; therefore, patients with congenital uterovaginal anomalies may have normal ovaries with normal hormonal production. (See 'Embryology' above.)

•The formation of the reproductive tract is closely associated with the development of the urinary system, thus genital tract anomalies are often associated with anomalies of the kidneys, ureters, or bladder. (See 'Embryology' above.)

●Anomalies of the hymen – Hymenal anatomic variants include imperforate, microperforate, septate, and cribriform hymens (figure 6). Diagnosis of an imperforate hymen may be made in neonates if a bulging introitus is noted. At menarche, hymenal anomalies may present with primary amenorrhea, cyclic abdominal or pelvic pain, and/or difficulty with inserting tampons or vaginal intercourse. The diagnosis of hymenal anomalies is made on examination. In some cases, translabial or transperineal ultrasound is needed to differentiate imperforate hymen from vaginal obstruction. (See 'Anomalies of the hymen' above.)

●Anomalies of the vagina

•Transverse vaginal septa are often fenestrated and thus may not be associated with amenorrhea (figure 9B). Longitudinal vaginal septa are typically associated with uterine anomalies, such as septate uterus and uterus didelphys. The most common symptom associated with vaginal septa is difficulty with tampons or sexual intercourse. Imaging can help to delineate other reproductive tract anomalies occurring with a septum. Treatment is excision of the septum. (See 'Transverse vaginal septum' above and 'Longitudinal vaginal septum' above.)

•Total vaginal agenesis (Mayer-Rokitansky-Küster-Hauser syndrome) is usually accompanied by cervical and uterine agenesis and urologic anomalies. Ultrasound examination should be performed to assess the kidneys and confirm the presence of ovaries and the absence or presence of a uterus or uterine structures. Nonsurgical management is the preferred first line therapy for creation of a functional vagina; surgical treatment is also possible. (See 'Vaginal agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome)' above.)

•Agenesis/absence of the lower vagina is usually associated with normal development of the ovaries, uterus, cervix, and upper vagina. Imaging studies help to confirm the diagnosis. Treatment is surgical reconstruction. (See 'Agenesis of the lower vagina' above.)

●Vaginal cysts – Cysts from müllerian remnants, epidermal inclusions, or Gartner duct usually form on the lateral or posterior vaginal walls. Anterior wall masses may be vaginal wall cysts, but urethral diverticula are more common at this location. Treatment of cysts is by excision or marsupialization. (See 'Vaginal cysts' above.)