Vaginal anomalies

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A 1904 gynecology textbook that describes some vaginal anomalies The Principles and practice of gynecology - for students and practitioners (1904) (14581562657).jpg
A 1904 gynecology textbook that describes some vaginal anomalies

Vaginal anomalies are abnormal structures that are formed (or not formed) during the prenatal development of the female reproductive system and are rare congenital defects that result in an abnormal or absent vagina. [1]

Contents

When present, they are often found with uterine, skeletal and urinary abnormalities. [2] [3] This is because these structures, like the vagina, are most susceptible to disruption during crucial times of organ-genesis. Many of these defects are classified under the broader term Müllerian duct anomalies. [2] [4] Müllerian duct anomalies are caused by a disturbance during the embryonic time of genitourinary development. [5]

The other isolated incidents of vaginal anomalies can occur with no apparent cause. Oftentimes vaginal anomalies are part of a cluster of defects or syndromes. In addition, inheritance can play a part as can prenatal exposure to some teratogens. [2] [6] [7] [8] Many vaginal anomalies are not detected at birth because the external genitalia appear to be normal. [2] Other organs of the reproductive system may not be affected by an abnormality of the vagina. The uterus, fallopian tubes and ovaries can be functional despite the presence of a defect of the vagina and external genitalia. [2]

A vaginal anomaly may not affect fertility. Though it depends on the extent of the vaginal defect, it is possible for conception to occur. In instances where a functional ovary exists, IVF may be successful. Functioning ovaries in a woman with a vaginal defect allows the implantation of a fertilized ovum into the uterus of an unaffected gestational carrier, usually another human. A successful conception and can occur. [9] [2] Vaginal length varies from 6.5 to 12.5 cm. Since this is slightly shorter than older descriptions, it may impact the diagnosis of women with vaginal agenesis or hypoplasia who may unnecessarily be encouraged to undergo treatment to increase the size of the vagina. [10]

Vaginal anomalies may cause difficulties in urination, conception, pregnancy, impair sex. Psychosocial effects can also exist. [11]

Signs and symptoms

Isolated anomalies

Some anomalies are found upon examination shortly after birth or when the development of sexual characteristics does not progress as expected. Defects that prevent menstrual flow become obvious when amenorrhea occurs.[ citation needed ]

Syndromes

Syndromes may take longer to identify since they are rare and often involve errors in metabolism. Many syndromes share the same signs and symptoms.[ citation needed ]

Associated uterine defects

Uterine defects can accompany vaginal abnormalities:

Women with uterine abnormalities may have associated renal abnormalities including unilateral renal agenesis. [14]

Anomalies associated with syndromes

Some congenital syndromes present with vaginal anomalies in association with other serious conditions. These include Fraser syndrome, WNT4 deficiency, and Bardet-Biedl syndrome, [15] [16] [17] [18] Isolated incidents of vaginal anomalies can occur with no apparent cause and in other instances these anomalies are part of a syndrome or cluster of other abnormalities. The origin of many vaginal anomalies is due to a disturbance during the embryonic stage of genitourinary development. [5] Inheritance can play a part as can prenatal exposure to hormones and teratogens. [2] [7] Though the presence of a vaginal anomaly does not necessarily prevent conception and a successful pregnancy when a functional uterus and ovaries are present, vaginal anomalies increase the risk of miscarriage. [19] [9] [2]

SyndromeAcronymsReferences
Fraser syndrome [15] [20] [21] [22] [23] [24] [25]
WNT4 deficiency [15] [26] [27]
Bardet–Biedl syndrome [15] [28]
McKusick–Kaufman syndrome [29] [30]
Herlyn–Werner–Wunderlich syndrome HWW, OHVIRA [31] [32] [33] [34]
Congenital adrenal hyperplasia
Mullerian anomalies [2] [35]
Müllerian agenesis [12] [13]
Congenital adrenal hyperplasia [36]
OEIS complex [37]
Exstrophy–epispadias complex [38]

Prenatal exposure to some hormones can cause vaginal anomalies as can the lack of necessary hormones needed for normal development. [39] Diethylstilbestrol (DES), also known formerly (and inappropriately) as stilboestrol, is a synthetic nonsteroidal estrogen and teratogen that can cause vaginal abnormalities in the developing embryo. [40]

Cause

The cause of isolated cases of vaginal anomalies can not always be identified, though disruption of the embryonic development of the vagina likely plays a significant role.[ citation needed ]

Diagnosis

Imaging studies are usually the most useful in diagnosing vaginal anomalies including retrograde contrast studies. [1] An anomaly scan can be helpful, especially detecting the presence of a urogenital syndrome. Genetic and metabolic defects require further testing to support a diagnosis.[ citation needed ]

Treatment

Vaginal anomalies are treated surgically. [41] A 'neo-vagina' can be constructed for those girls and women who do not have a vagina. [42] [43] Vaginal septa are treated surgically. [44] [45]

The most common vaginal anomaly is an imperforate hymen. This anomaly occurs often enough that it can be detected by some pediatricians shortly after birth. It can be corrected through a minor surgery and may be delayed until puberty. [46] The hymen can be unusually thick or partially obstructed by the presence of fibrous bands of tissue. An imperforate hymen can also present with other abnormalities such as septa. An imperforate hymen can be displaced and its location may not be where it is expected. Other abnormalities of the hymen can exist including the presence of septa, displacement and a hymen that consists of microperforations. [47] [19] Uncommonly, a double hymen is present. [48] [49] [50] The imperforate hymen is treated by excision and drainage. Sometimes a small border of hymenal tissue is left around the opening of the vagina. [51]

Congenital adrenal hyperplasia can cause the abnormal development of the vagina. [52] [53] [54] Vaginal adenosis is the abnormal presence of cervical and uterine tissue within the wall of the vagina. [55] Ten percent of women have this condition and remain unsymptomatic. It rarely develops into a malignancy. [56] Cloacal exstrophy is a condition when two vaginas are present. [57] [58] [27] Vaginal agenesis or the complete absence of the vagina affects 1 out of 5,000 women. [35] A hemivagina is the abnormal presence of a partial vagina that is attached to the wall of the functioning vagina. The hemivagina does not open to the normal vagina and is attached to an abnormal, second uterus. [59] Vaginal hypoplasia is the under-development of the vagina and is found in instances of complete androgen insensitivity syndrome. [60] [61] [15] Vaginal septa are structures consisting of fibrous tissue that block the vagina. [57] [62] The tissue extends horizontally, blocking or partially blocking the vaginal canal or transversely essentially creating two vaginas that connect to a normal uterus. [63] [64] Septa can prevent menstrual flow and result in painful intercourse, though some women do not have symptoms. [65] [60] [63] Many vaginal anomalies are not detected at birth because the external genitalia can appear to be normal. [2]

Structural anomalieIncidenceNotes and synonymsTreatmentReferences
Imperforate hymen 1 in 1000-2000 Mucometrocolpos and Hematocolpos are complicationssurgical [48] [1] [49] [66] [67]
Vaginal adenosis 1 in tenoften without symptomsnone [56] [40] [55]
Cloacal exstrophy 3.3 in 100,000syn: Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS)surgical [57] [58] [68] [17] [69] [27] [1] [70] [71] [37]
Vaginal agenesis 1 in 5000surgical and ongoing [15] [61] [1] [35]
Hemivagina hemivagina does not open to the normal vagina and is attached to an abnormal, second uterus, also occurs in the syndrome Uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis (OHVIRA) [72] [59]
Vaginal hypoplasia [60]
Vaginal atresia [2] [35]
Congenital vaginal fistulasurgical [73] [74]
Septa1 in 70,000Septa can prevent menstrual flow and result in painful intercourse; others have no symptoms; Transverse septa often present with kidney defects.surgical or none [63] [60] [65] [57] [49] [18] [75]
Persistent cloaca [76] [1]
Urogenital sinus urinary system and vagina open into a common channel [36] [1] [77]

Epidemiology

The occurrence of vaginal defects varies widely and some are only known from case studies. The prevalence of an imperforate hymen is 1 in 1000. [66]

History

The ancient Greek method for treating a prolapsed uterus that has extended through and beyond the vaginal introitus Hippocrates treatment for prolapse.png
The ancient Greek method for treating a prolapsed uterus that has extended through and beyond the vaginal introitus

Notable is the mention of vaginal anomalies and pelvic organ prolapse in older cultures and locations. [78] In 1500 B.C. Egyptians wrote about the "falling of the womb". In 400 B.C. a Greek physician documented his observations and treatments:

"After the patient had been tied to a ladder-like frame, she was tipped upward so that her head was toward the bottom of the frame. The frame was then moved upward and downward more or less rapidly for approximately 3–5 min. As the patient was in an inverted position, it was thought that the prolapsing organs of the genital tract would be returned to their normal position by the force of gravity and the shaking motion." [78]

Hippocrates also described the prolapse of other organs out through the vagina. [78] In 1521, Berengario da Carpi performed the first surgical treatment for prolapse. This was to tie a rope around the prolapse, tighten it for two days until it was no longer viable and cut it off. Wine, aloe, and honey were then applied to the stump. [78]

References regarding the existence of vaginal anomalies related to müllerian defects have been traced back to 300 BC when a historian described a case of vaginal agenesis. [79]

In 1823, other physicians proposed that vaginoplasty may provide treatment for pelvic organ prolapse. In 1830, the first dissection of the vagina was performed on a living woman. Other vaginal repairs were described in 1834 and treatment sometimes the suturing the edges of a vaginal defect. In 1859 a solution to vaginal elongation was to remove the cervix. [78] In 1866, methods that resembled those used today came into practice. Surgery on the anterior vaginal wall at this time did not have to involve full-thickness repairs to be successful. Sim subsequently developed another procedure that did not require the full-thickness dissection of the vaginal wall. Shortly after this time it was proposed that reattaching the vagina to support structures was more successful and resulted in less recurrence. This same proposal was proposed again in 1976 but further studies indicated that the recurrence rate was not better. Further advances in 1961 began when surgeons started to reattach of the anterior vaginal wall to Cooper's ligament. [78]

In 1955, surgical mesh began to be used to strengthen pelvic tissue. In 1970, tissue from pigs began to be used to strengthen the anterior vaginal wall in surgery. Beginning in 1976, improvement in suturing began along with the surgical removal of the vagina being used to treat prolapse of the bladder. In 1991, assumptions about the detailed anatomy of the pelvic support structures began to be questioned regarding the existence of some pelvic structures and the non-existence of others. More recently, the use of stem cells, robot-assisted laparoscopic surgery are being used during vaginectomy and vaginoplasty. [78]

See also

Related Research Articles

<span class="mw-page-title-main">Vaginoplasty</span> Surgical procedure

Vaginoplasty is any surgical procedure that results in the construction or reconstruction of the vagina. It is a type of genitoplasty. Pelvic organ prolapse is often treated with one or more surgeries to repair the vagina. Sometimes a vaginoplasty is needed following the treatment or removal of malignant growths or abscesses in order to restore a normal vaginal structure and function. Surgery to the vagina is done to correct congenital defects to the vagina, urethra and rectum. It will correct protrusion of the urinary bladder into the vagina (cystocele) and protrusion of the rectum (rectocele) into the vagina. Often, a vaginoplasty is performed to repair the vagina and its attached structures due to trauma or injury. Labiaplasty, which alters the appearance of the vulva, can be performed as a discrete surgery, or as a subordinate procedure within a vaginoplasty.

Müllerian agenesis, also known as Müllerian aplasia, vaginal agenesis, or Mayer–Rokitansky–Küster–Hauser syndrome, is a congenital malformation characterized by a failure of the Müllerian ducts to develop, resulting in a missing uterus and variable degrees of vaginal hypoplasia of its upper portion. Müllerian agenesis is the cause in 15% of cases of primary amenorrhoea. Because most of the vagina does not develop from the Müllerian duct, instead developing from the urogenital sinus, along with the bladder and urethra, it is present even when the Müllerian duct is completely absent. Because ovaries do not develop from the Müllerian ducts, affected people might have normal secondary sexual characteristics but are infertile due to the lack of a functional uterus. However, biological motherhood is possible through uterus transplantation or use of gestational surrogates.

<span class="mw-page-title-main">Uterine malformation</span> Medical condition

A uterine malformation is a type of female genital malformation resulting from an abnormal development of the Müllerian duct(s) during embryogenesis. Symptoms range from amenorrhea, infertility, recurrent pregnancy loss, and pain, to normal functioning depending on the nature of the defect.

An imperforate hymen is a congenital disorder where a hymen without an opening completely obstructs the vagina. It is caused by a failure of the hymen to perforate during fetal development. It is most often diagnosed in adolescent girls when menstrual blood accumulates in the vagina and sometimes also in the uterus. It is treated by surgical incision of the hymen.

<span class="mw-page-title-main">Cystocele</span> Medical condition

The cystocele, also known as a prolapsed bladder, is a medical condition in which a woman's bladder bulges into her vagina. Some may have no symptoms. Others may have trouble starting urination, urinary incontinence, or frequent urination. Complications may include recurrent urinary tract infections and urinary retention. Cystocele and a prolapsed urethra often occur together and is called a cystourethrocele. Cystocele can negatively affect quality of life.

Vaginal atresia is a condition in which the vagina is abnormally closed or absent. The main causes can either be complete vaginal hypoplasia, or a vaginal obstruction, often caused by an imperforate hymen or, less commonly, a transverse vaginal septum. It results in uterovaginal outflow tract obstruction. This condition does not usually occur by itself within an individual, but coupled with other developmental disorders within the female. The disorders that are usually coupled with a female who has vaginal atresia are Mayer-Rokitansky-Küster-Hauser syndrome, Bardet-Biedl syndrome, or Fraser syndrome. One out of every 5,000 women have this abnormality.

A uterine septum is a form of a congenital malformation where the uterine cavity is partitioned by a longitudinal septum; the outside of the uterus has a normal typical shape. The wedge-like partition may involve only the superior part of the cavity resulting in an incomplete septum or a subseptate uterus, or less frequently the total length of the cavity and the cervix resulting in a double cervix. The septation may also continue caudally into the vagina resulting in a "double vagina".

<span class="mw-page-title-main">Reproductive medicine</span> Branch of medicine

Reproductive medicine is a branch of medicine concerning the male and female reproductive systems. It encompasses a variety of reproductive conditions, their prevention and assessment, as well as their subsequent treatment and prognosis.

<span class="mw-page-title-main">Uterus didelphys</span> Medical condition

Uterus didelphys represents a uterine malformation where the uterus is present as a paired organ when the embryogenetic fusion of the Müllerian ducts fails to occur. As a result, there is a double uterus with two separate cervices, and possibly a double vagina as well. Each uterus has a single horn linked to the ipsilateral fallopian tube that faces its ovary.

Hematocolpos is a medical condition in which the vagina is pooled with menstrual blood due to multiple factors leading to the blockage of menstrual blood flow. The medical definition of hematocolpos is 'an accumulation of blood within the vagina'. It is often caused by the combination of menstruation with an imperforate hymen. It is sometimes seen in Robinow syndrome, uterus didelphys, or other vaginal anomalies.

Vaginal hypoplasia is the underdevelopment or incomplete development of the vagina. It is a birth defect or congenital abnormality of the female genitourinary system.

<span class="mw-page-title-main">Hematometra</span> Medical condition

Hematometra is a medical condition involving collection or retention of blood in the uterus. It is most commonly caused by an imperforate hymen or a transverse vaginal septum.

<span class="mw-page-title-main">Vaginal septum</span> Medical condition

A vaginal septum is a vaginal anomaly that is partition within the vagina; such a septum could be either longitudinal or transverse. In some affected women, the septum is partial or does not extend the length or width of the vagina. Pain during intercourse can be a symptom. A longitudinal vaginal septum develops during embryogenesis when there is an incomplete fusion of the lower parts of the two Müllerian ducts. As a result, there may appear to be two openings to the vagina. There may be associated duplications of the more cranial parts of the Müllerian derivatives, a double cervix, and either a uterine septum or uterus didelphys. A transverse septum forms during embryogenesis when the Müllerian ducts do not fuse to the urogenital sinus. A complete transverse septum can occur across the vagina at different levels. Menstrual flow can be blocked, and is a cause of primary amenorrhea. The accumulation of menstrual debris behind the septum is termed cryptomenorrhea. Some transverse septa are incomplete and may lead to dyspareunia or obstruction in labour.

A vaginal disease is a pathological condition that affects part or all of the vagina.

Female genital disease is a disorder of the structure or function of the female reproductive system that has a known cause and a distinctive group of symptoms, signs, or anatomical changes. The female reproductive system consists of the ovaries, fallopian tubes, uterus, vagina, and vulva. Female genital diseases can be classified by affected location or by type of disease, such as malformation, inflammation, or infection.

<span class="mw-page-title-main">MURCS association</span> Medical condition

MURCS association is a very rare developmental disorder that primarily affects the reproductive and urinary systems involving MUllerian agenesis, Renal agenesis, Cervicothoracic Somite abnormalities. It affects only females.

Müllerian duct anomalies are those structural anomalies caused by errors in müllerian duct development during embryonic morphogenesis. Factors that precipitate include genetics, and maternal exposure to teratogens.

<span class="mw-page-title-main">OHVIRA</span> Medical condition

Herlyn-Werner-Wunderlich syndrome, also known as OHVIRA is an extremely rare syndrome characterized by a congenital birth defect of the lower abdominal and pelvic organs. It is a type of abnormality of the Müllerian ducts.

WNT4 deficiency is a rare genetic disorder that affects females and it results in the underdevelopment and sometimes absence of the uterus and vagina. WNT4 deficiency is caused by mutations of the WNT4 gene. Abnormally high androgen levels are found in the blood and can initiate and promote the development of male sex characteristics. This is seen as male pattern of hair growth on the chest and face. Those with this genetic defect develop breasts but do not have their period. Mayer–Rokitansky–Küster–Hauser syndrome is a related but distinct syndrome. Some women who have an initial diagnosis of MRKH have later been found to have WNT4 deficiency. Most women with MRKH syndrome do not have genetic mutations of the WNT4 gene. The failure to begin the menstrual cycle may be the initial clinical sign of WNT4 deficiency. WNT4 deficiency can cause significant psychological challenges and counseling is recommended.

<span class="mw-page-title-main">Vaginal cysts</span> Benign growths of the vaginal epithelium

Vaginal cysts are uncommon benign cysts that develop in the vaginal wall. The type of epithelial tissue lining a cyst is used to classify these growths. They can be congenital. They can present in childhood and adulthood. The most common type is the squamous inclusion cyst. It develops within vaginal tissue present at the site of an episiotomy or other vaginal surgical sites. In most instances they do not cause symptoms and present with few or no complications. A vaginal cyst can develop on the surface of the vaginal epithelium or in deeper layers. Often, they are found by the woman herself and as an incidental finding during a routine pelvic examination. Vaginal cysts can mimic other structures that protrude from the vagina such as a rectocele and cystocele. Some cysts can be distinguished visually but most will need a biopsy to determine the type. Vaginal cysts can vary in size and can grow as large as 7 cm. Other cysts can be present on the vaginal wall though mostly these can be differentiated. Vaginal cysts can often be palpated (felt) by a clinician. Vaginal cysts are one type of vaginal mass, others include cancers and tumors. The prevalence of vaginal cysts is uncertain since many go unreported but it is estimated that 1 out of 200 women have a vaginal cyst. Vaginal cysts may initially be discovered during pregnancy and childbirth. These are then treated to provide an unobstructed delivery of the infant. Growths that originate from the urethra and other tissue can present as cysts of the vagina.

References

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  6. ↑ The most notable teratogen that is strongly associated with vaginal anomalies is the synthetic hormone Diethylstilbestrol
  7. 1 2 The inheritance patterns of some vaginal anomalies can be autosomal dominant, autosomal recessive, and X-linked disorders.
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