Vaginal atresia

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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. [1] [ failed verification ] 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. [2] 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. [2] One out of every 5,000 women have this abnormality. [3]

Contents

Symptoms and signs

Symptoms and signs in the newborn can be sepsis, abdominal mass, and respiratory distress. Other abdominopelvic or perineal congenital anomalies frequently prompt radiographic evaluation in the newborn, resulting in a diagnosis of coincident vaginal atresia. [4] Symptoms for vaginal atresia include cyclical abdominal pain, the inability to start having menstrual cycles, a small pouch or dimple where a vaginal opening should be, and pelvic mass when the upper vagina becomes filled with menstrual blood. [2] Signs and symptoms of vaginal atresia or vaginal agenesis can often go unnoticed in females until they reach the age of menstruation. Women may also experience some form of abdominal pain or cramping. [1]

Causes

The cause for vaginal atresia is unknown. Typically, the creation of the vaginal canal is completed within the fetus by the 20th week of gestation.[ medical citation needed ] Researchers believe in patients with vaginal atresia, tubes known as the Müllerian ducts do not develop correctly within the first 20 weeks of gestation/pregnancy. Typically, one of these ducts develops in the fallopian tubes while the other ducts develop into the vagina and uterus. [1] Vaginal atresia is found to occur when the urogenital sinus does not contribute to the formation of the lower portion of the vagina.[ medical citation needed ] As previously mentioned, there are other disorders or syndromes that are found in conjunction with individuals living with vaginal atresia. These disorders are:

Rokitansky-Mayer-Küster-Hauser syndrome

Rokitansky-Mayer-Küster-Hauser syndrome is a disorder in females that causes the uterus and vagina to be absent or underdeveloped. Those born with this disorder are considered to be genetic female and have a 46XX chromosomes. [5] Kidney anomalies often accompany this disorder as well. [2] Also referred to as Müllerian agenesis, vaginal agenesis, or Müllerian aplasia, this disorder affects 1 in every 4,000-5,000 females. [6] [5] A cloacal malformation often accompanies this disorder, which is the surgical treatment that incorporates several vaginal replacement techniques.[ clarification needed ] [2] This disorder is caused by an implication in the WNT4 protein coding gene, which is found on the short arm (p) of chromosome 1. A genetic mutation occurs causing a substitution of leucine to proline residue at position 12 on the amino acid in the WNT4 protein.[ medical citation needed ] Essentially, this will cause a reduction in the intranuclear levels of β catenin. Additionally, steroidogenic enzymes such as 17α-hydroxylase and 3β-hydroxysteriod dehydrogenase are inhibited because of this mutation, which leads to an excess amount to androgen in the system.[ medical citation needed ] As the WNT4 gene is essential for developing a protein that is essential for female sex development, [7] the Müllerian duct is either absent or deformed when this gene is not present. The development of the female reproductive system may be disrupted in the absence of the WNT4 protein's regulation. Abnormal androgen production is also induced, eventually leading to hyperandrogenism and Müllerian aplasia. [7]

Bardet-Biedl Syndrome

Bardet-Biedl syndrome (BBS) is a ciliopathic human genetic disorder that can affect various parts of the body. Parts of the urogenital system where the effects of BBS are seen include: ectopic urethra, kidney failure, uterus duplex, hypogonadism, septate vagina, and hypoplasia of the fallopian tubes, uterus, ovaries. [8] Some of the common characteristics associated with this syndrome include intellectual disorders, loss of vision, kidney problems, and obesity. [2] [9] [10]

The mechanism that causes BBS is still remains unclear. Mutations in more than 20 genes can cause BBS and is an inherited recessive condition. Some of the gene mutations that occur in BBS are listed below:

BBS1, BBS2, ARL6 (BBS3), BBS4, BBS5, MKKS (BBS6), BBS7, TTC8 (BBS8), BBS9, BBS10, TRIM32 (BBS11), BBS12, MKS1 (BBS13), CEP290 (BBS14), WDPCP (BBS15), SDCCAG8 (BBS16), LZTFL1 (BBS17), BBIP1 (BBS18), IFT27 (BBS19), IFT72 (BBS20) , and C8ORF37(BBS21) [11] The majority of the genes that are related to BBS encode proteins which are called cilia and basal bodies, which are related structures. [11]

Fraser Syndrome

Fraser syndrome is a disorder that affects the development of the child prior to birth. Infants born with Fraser syndrome often have eyes that are malformed and completely covered by skin. Also the child is born with fingers and toes that are fused together along with abnormalities within the urine tract. [2] As this disorder relates to vaginal atresia, infants born with Fraser syndrome are also born with malformations in their genitals.

McKusick-Kaufman syndrome

A female with McKusick-Kaufman syndrome has vaginal atresia that is often present with imperforate anus, heart defects, hydrometrocolpos, and/or polydactyly, The female will still develop secondary sexual characteristics. [9]

Mechanism

The exact mechanism for vaginal atresia is not well known, as specific molecular mechanisms which lead to the closing or absence of the vagina are unclear. There are various pathways that may support or restrict regular vaginal development. Research has shown that changing factors may also include paracrine and autocrine signals and changes in the basis of developing organs. Specific patterns of genetic transmission have not been identified for this condition. [4] Normal reproductive organ production requires timely coordination of the following systems: external genitalia, internal ductal system, and gonadal structure. The abnormal development of the vagina results in an incomplete unit (low, mid, high transverse septum), failure of epithelium degeneration (imperforate hymen), and vaginal atresia.[ medical citation needed ]

According to a number of medical professionals, timely coordination of interdependent systems is required for normal reproductive organ development in both males and females. [4] The description of vaginal atresia mechanism can be explained in several steps of development of the uterovaginal canal per the information provided by these medical professionals. These interdependent systems are external genitalia, gonadal structures, and internal ductal system. The absence of androgens, Müllerian-inhibiting substance (MIS), and testes causes the continuous differentiation of the Müllerian ducts with reversion of the Wolffian ducts in the female embryo. The Müllerian duct will then elongate to reach the urogenital sinus within 9 weeks of gestation; this forms the uterovaginal canal. [4] By 15–26 weeks of gestation, cephalic growth of the sinovaginal bulb is completed. The vaginal plate is also formed from the fusion of vaginal cord with the sinovaginal bulb.

The formation of the uterovaginal canal is thought to occur from the caudal to the cephalic portion, all while the urogenital sinus is used to create the epithelial lining. Development of the vagina is completed by the fifth month of gestation. While the mesenchyme that surrounds the structures transitions into musculature of the genital tract, the fallopian tubes are formed via the cephalic remnants of the Müllerian duct. This developmental process attributes to the process of how proper vaginal development takes place. Failure of the septum to regress between the fused Müllerian ducts results in a septate uterus. The incomplete fusion of the Müllerian ducts attributes to the formation of arcuate, bicornuate, or didelphid uteri. [4]

Females who have both Rokitansky-Mayer-Küster-Hauser syndrome and uterovaginal atresia are theorized to have a failing caudal development within the Müllerian ducts. Variations of transverse vaginal septum might be described by the malfunctions at the level of the vaginal plate. Though the Müllerian and urogenital sinuses play a huge role in the derivation of the vagina, it is unclear how much of a role each of these play normal vaginal development. [4]

Diagnosis

Vaginal atresia can sometimes be diagnosed by physical examination soon after birth. [1] A child with vaginal atresia often has other congenital abnormalities and other tests such as X-ray and tests to evaluate the kidneys are done. [4] Findings in adolescents may include abdominal pain, difficulty voiding, and backache, but most present with amenorrhea. Difficulties with sexual intercourse can suggest atresia. In the event that the condition is not caught shortly after birth, vaginal atresia becomes more evident when no menstrual cycle is occurs. [2] If vaginal atresia is suspected by the doctor, a blood test may also be request for any of the previously mentioned syndromes, a magnetic resonance imaging (MRI) test, or an ultrasound. A regular evaluation of children born with an imperforate anus or anorectal malformation should be paired with the assessment of the results from these tests.[ citation needed ]

Woman with Mullerian agenesis exhibiting vaginal agenesis Agenesia de vagina2.png
Woman with Müllerian agenesis exhibiting vaginal agenesis

Treatment

There are several methods of treatment for individuals with vaginal atresia. The first method of treatment that is recommended would be self-dilation of the vagina. A doctor may first recommend that the patient first attempts to create a vagina themselves through the process self-dilation. [1] The self dilation technique consists of using vaginal dilators, which are small round tubes that vary in size and are similar in size and shape to tampons. [2] Vaginal dilators may be pressed alongside the vaginal area on a regular basis in order to further open the vaginal canal. Frank's procedure is a technique that used a progressive series of vaginal dilators that are inserted into the dimple of the vagina while using pressure. This will widen any space that exists between the bladder and the rectum.[ medical citation needed ] Frank's procedure can be performed directly by the patient, therefore requiring no surgery or anesthesia. The procedure/technique can take months to complete, with regular compliance necessary. The overall success rate for females who use Frank's procedure is 80%. If this procedure does not work, then surgery would be the next method of treatment.[ medical citation needed ] Another alternative form of treatment would be surgery, or the creation of a new vagina. [2]

Prognosis

The prognosis for vaginal atresia is one that is complicated. There are variations in patients' anatomic findings as well as an absence in consistent surgical techniques which makes it difficult to give a prognosis for this condition. Along with other conditions that give rise to an abnormal perineum (i.e. ambiguous genitalia and other various abnormalities that range from cloaca to urogenital sinus), individuals with vaginal atresia often report reconstruction as an outcome of treatment. [4] Due to this, it is difficult to compare outcomes between individuals with vaginal atresia.

Rokitansky-Mayer-Küster-Hauser Syndrome

Fertility options for girls and women with Rokitansky-Mayer-Küster-Hauser syndrome has a bit more information. Girls and women who are born without a complete vagina, but still have a regular sized uterus more than likely will be able to become pregnant and have a baby. However, if the female is born with a tiny uterus, or without a uterus, they will not be able to have a baby. [5] As the ovaries may be normal in this case, the egg may be fertilized with a donor's or partner's sperm. In this case, surrogacy, would be an option where there will be a gestational carrier to carry the pregnancy for the couple. Adoption may also be an option for females with Rokitansky-Mayer-Küster-Hauser syndrome. Another possibility could be uterine transplants, however this a new and developing form of treatment. Fertility options are being researched daily, so there can always be a new method available. [5]

Any pain associated with Rokitansky-Mayer-Küster-Hauser syndrome comes from menstruation related cramping and can be treated with several ways. Individuals with this syndrome may be born with a uterine remnant (tiny uterus), which can become filled with blood in the pelvic cavity causing pain. [5] A medical professional can assess the severity of having a uterine remnant within each patient to determine if removal of the uterus is necessary. [5]

Bardet-Biedl Syndrome

There is no cure available for individuals with Bardet-Biedl Syndrome; however, there are methods of treatment for some of the signs and symptoms within each individual. [12] Corrective surgery of malformation related to the disorder may be an option for treatment. Genetic counseling can also be beneficial to families with this disorder.

Related Research Articles

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 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 may 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.

<span class="mw-page-title-main">Paramesonephric duct</span> Paired ducts in the embryo in the primitive urogenital structures

The paramesonephric ducts are paired ducts of the embryo in the female reproductive system that run down the lateral sides of the genital ridge and terminate at the sinus tubercle in the primitive urogenital sinus. In the female, they will develop to form the fallopian tubes, uterus, cervix, and the upper one-third of the vagina.

<span class="mw-page-title-main">Müllerian agenesis</span> Congenital malformation of female reproductive organs

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.

The development of the urinary system begins during prenatal development, and relates to the development of the urogenital system – both the organs of the urinary system and the sex organs of the reproductive system. The development continues as a part of sexual differentiation.

<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.

<span class="mw-page-title-main">Bardet–Biedl syndrome</span> Medical condition

Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized by rod/cone dystrophy, polydactyly, central obesity, hypogonadism, and kidney dysfunction in some cases. Historically, slower mental processing has also been considered a principal symptom but is now not regarded as such.

<span class="mw-page-title-main">Human reproductive system</span> Organs involved in reproduction

The human reproductive system includes the male reproductive system which functions to produce and deposit sperm; and the female reproductive system which functions to produce egg cells, and to protect and nourish the fetus until birth. Humans have a high level of sexual differentiation. In addition to differences in nearly every reproductive organ, there are numerous differences in typical secondary sex characteristics.

Atresia is a condition in which an orifice or passage in the body is closed or absent.

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.

Hydrocolpos is the distension of the vagina caused by accumulation of fluid due to congenital vaginal obstruction. The obstruction is often caused by an imperforate hymen or less commonly a transverse vaginal septum. The fluid consists of cervical and endometrial mucus or in rare instances urine accumulated through a vesicovaginal fistula proximal to the obstruction. In some cases, it is associated with Bardet-Biedl Syndrome. If it occurs in prepubertal girls, it may show up as abdominal swelling. It may be detected by using ultrasound. Prenatal diagnosis and early newborn imaging studies leads to early detection and treatment of these cases. It may also present at birth as a distended lower abdomen and vagina. It also associated with vaginal atresia. A high index of suspicion for hydrocolpos in a newborn presenting with fetal diagnosis of infraumbilical abdominal mass will facilitate timely intervention and prevention of complications.

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

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">WNT4</span> Protein-coding gene in the species Homo sapiens

WNT4 is a secreted protein that, in humans, is encoded by the WNT4 gene, found on chromosome 1. It promotes female sex development and represses male sex development. Loss of function may have consequences, such as female to male sex reversal.

<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.

<span class="mw-page-title-main">Complete androgen insensitivity syndrome</span> Medical condition

Complete androgen insensitivity syndrome (CAIS) is an AIS condition that results in the complete inability of the cell to respond to androgens. As such, the insensitivity to androgens is only clinically significant when it occurs in individuals who are exposed to significant amounts of testosterone at some point in their lives. The unresponsiveness of the cell to the presence of androgenic hormones prevents the masculinization of male genitalia in the developing fetus, as well as the development of male secondary sexual characteristics at puberty, but does allow, without significant impairment, female genital and sexual development in those with the condition.

<span class="mw-page-title-main">McKusick–Kaufman syndrome</span> Medical condition

McKusick–Kaufman syndrome is a genetic condition associated with MKKS.

<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.

Cervical agenesis is a congenital disorder of the female genital system that manifests itself in the absence of a cervix, the connecting structure between the uterus and vagina. Milder forms of the condition, in which the cervix is present but deformed and nonfunctional, are known as cervical atresia or cervical dysgenesis.

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.

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 anomalies</span> Congenital defect; abnormal or absent vagina

Vaginal anomalies are abnormal structures that are formed during the prenatal development of the female reproductive system and are rare congenital defects that result in an abnormal or absent vagina.

References

  1. 1 2 3 4 5 "Vaginal agenesis - Symptoms and causes - Mayo Clinic". www.mayoclinic.org. Retrieved 2017-11-07.
  2. 1 2 3 4 5 6 7 8 9 10 "Vaginal Atresia :: Nationwide Children's Hospital". www.nationwidechildrens.org. Retrieved 2017-11-07.
  3. ↑ "Urology Care Foundation - What is Vaginal Agenesis?". www.urologyhealth.org. Retrieved 2018-01-21.
  4. 1 2 3 4 5 6 7 8 "Vaginal Atresia: Background, Anatomy, Pathophysiology". Medscape. 2017-03-30.
  5. 1 2 3 4 5 6 "MRKH: General Information | Center for Young Women's Health". Center for Young Women's Health. 2 October 2013. Retrieved 2017-12-13.
  6. ↑ "Müllerian Agenesis: Diagnosis, Management, and Treatment - ACOG". www.acog.org. Retrieved 2017-12-12.
  7. 1 2 Reference, Genetics Home. "Müllerian aplasia and hyperandrogenism". Genetics Home Reference. Retrieved 2017-12-12.
  8. ↑ Welt, Corinne K.; Barbieri, Robert L. "Etiology, diagnosis, and treatment of primary amenorrhea" . Retrieved 19 November 2015.
  9. 1 2 "Vaginal Atresia Clinical Presentation: History and Physical Examination". emedicine.medscape.com. April 22, 2016. Retrieved 2017-12-27.
  10. ↑ "Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes". www.nlm.nih.gov. Retrieved 2018-01-21.
  11. 1 2 "Bardet-Biedl Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2017-12-13.
  12. ↑ "Bardet-Biedl syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2017-12-13.
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