Vaginal 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|date=July 2020}}

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|date=July 2020}}

Uterine defects can accompany vaginal abnormalities:

• Müllerian agenesis (absent uterus). Uterus is not present, vagina only rudimentary or absent.
• Uterus didelphys, also uterus didelphis (double uterus). transverse vaginal septum
• Septated uterus (uterine septum or partition). With a complete vaginal septum.
• Rudimentary uterus is a uterine remnant not connected to cervix and vagina.

Women with uterine abnormalities may have associated renal abnormalities including unilateral renal agenesis.{{cite journal | vauthors = Li S, Qayyum A, Coakley FV, Hricak H | s2cid = 26387695 | title = Association of renal agenesis and mullerian duct anomalies | journal = Journal of Computer Assisted Tomography | volume = 24 | issue = 6 | pages = 829–34 | year = 2000 | pmid = 11105695 | doi = 10.1097/00004728-200011000-00001 }}

Some congenital syndromes present with vaginal anomalies in association with other serious conditions. These include Fraser syndrome, WNT4 deficiency, and Bardet-Biedl syndrome,{{cite web|url=https://rarediseases.org/rare-diseases/wnt4-deficiency/|title=WNT4 Deficiency - NORD (National Organization for Rare Disorders)|work=NORD (National Organization for Rare Disorders)|language=en-US|access-date=2018-01-22}} 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. Inheritance can play a part as can prenatal exposure to hormones and teratogens. 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.

Prenatal exposure to some hormones can cause vaginal anomalies as can the lack of necessary hormones needed for normal development.{{cite journal | vauthors = Bachelot A, Grouthier V, Courtillot C, Dulon J, Touraine P | title = MANAGEMENT OF ENDOCRINE DISEASE: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: update on the management of adult patients and prenatal treatment | journal = European Journal of Endocrinology | volume = 176 | issue = 4 | pages = R167–R181 | date = April 2017 | pmid = 28115464 | doi = 10.1530/eje-16-0888 | doi-access = free }} 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.

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|date=July 2020}}

Imaging studies are usually the most useful in diagnosing vaginal anomalies including retrograde contrast studies. 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|date=July 2020}}

Vaginal anomalies are treated surgically.{{cite journal | vauthors = Dietrich JE, Millar DM, Quint EH | title = Obstructive reproductive tract anomalies | language = en | journal = Journal of Pediatric and Adolescent Gynecology | volume = 27 | issue = 6 | pages = 396–402 | date = December 2014 | pmid = 25438708 | doi = 10.1016/j.jpag.2014.09.001 | url = http://www.jpagonline.org/article/S1083-3188(14)00314-3/fulltext }} A 'neo-vagina' can be constructed for those girls and women who do not have a vagina.{{cite web | url = http://www.atlasofpelvicsurgery.com/2VaginalandUrethra/22SigmoidNeovagina/chap2sec22.html | title = Sigmoid Neovagina | work = Atlas of Pelvic Surgery | access-date=2018-01-31 }}{{cite web | url = http://www.atlasofpelvicsurgery.com/2VaginalandUrethra/13McIndoeVaginoplastyforNeovagina/chap2sec13.html | title = McIndoe Vaginoplasty for Neovagina | work = Atlas of Pelvic Surgery | access-date = 2018-01-31 }} Vaginal septa are treated surgically.{{cite web |url=http://www.atlasofpelvicsurgery.com/2VaginalandUrethra/6ExcisionofTransverseVaginalSeptum/chap2sec6.html |title=Excision of Transverse Vaginal Septum | work = Atlas of Pelvic Surgery | access-date = 2018-01-31 }}{{cite web | url = http://www.atlasofpelvicsurgery.com/2VaginalandUrethra/7CorrectionofDouble-BarreledVagina/chap2sec7.html | title = Correction of Double-Barreled Vagina | work = Atlas of Pelvic Surgery | access-date = 2018-01-31}}

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.{{Cite web |title=Imperforate Hymen {{!}} Boston Children's Hospital |url=https://www.childrenshospital.org/conditions/imperforate-hymen#:~:text=What%20is%20imperforate%20hymen?,corrected%20through%20a%20minor%20surgery. |access-date=2023-09-26 |website=www.childrenshospital.org}} 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.{{cite journal |url=https://emedicine.medscape.com/article/269050-overview |title=Imperforate Hymen: Background, Problem, Epidemiology|date=2017-05-04}}{{cite journal | vauthors = Acién P, Acién M | title = The presentation and management of complex female genital malformations | journal = Human Reproduction Update | volume = 22 | issue = 1 | pages = 48–69 | date = 2016-01-01 | pmid = 26537987 | doi = 10.1093/humupd/dmv048 | doi-access = free }} Uncommonly, a double hymen is present.{{cite journal|date=2017-12-06|title=Amenorrhea: Background, Pathophysiology, Etiology|url=https://emedicine.medscape.com/article/252928-overview}}{{cite book | url = https://books.google.com/books?id=QpabASTwF_sC&pg=PA1599 | title = Pediatric Surgery | vauthors = Coran AG, Caldamone A, Adzick N, Krummel T, Laberge J, Shamberger R | publisher = Elsevier Health Sciences | year = 2012 | isbn = 978-0-323-09161-9 | page = 1599 }}{{cite journal | vauthors = Lardenoije C, Aardenburg R, Mertens H | title = Imperforate hymen: a cause of abdominal pain in female adolescents | journal = BMJ Case Reports | volume = 2009 | pages = bcr0820080722 | date = 2009-05-26 | pmid = 21686660 | pmc = 3029536 | doi = 10.1136/bcr.08.2008.0722 }} The imperforate hymen is treated by excision and drainage. Sometimes a small border of hymenal tissue is left around the opening of the vagina.{{Cite book |title=State-of-the-art : vaginal surgery |last1=Goel |first1=Neerja |last2=Rajaram |first2=Shalini |last3=Mehta |first3=Sumita |year=2013 |isbn=9789350902875 |edition=2nd |location=New Delhi |page=6 |oclc=858649878}}

Congenital adrenal hyperplasia can cause the abnormal development of the vagina.{{cite journal | vauthors = Wang LC, Poppas DP | s2cid = 45876518 | title = Surgical outcomes and complications of reconstructive surgery in the female congenital adrenal hyperplasia patient: What every endocrinologist should know | journal = The Journal of Steroid Biochemistry and Molecular Biology | volume = 165 | issue = Pt A | pages = 137–144 | date = January 2017 | pmid = 26995108 | doi = 10.1016/j.jsbmb.2016.03.021 }}{{cite journal|date=2017-02-21|title=Congenital Adrenal Hyperplasia: Practice Essentials, Background, Pathophysiology|url=https://emedicine.medscape.com/article/919218-overview}}{{cite encyclopedia|url=https://medlineplus.gov/ency/article/001497.htm|title=Developmental disorders of the female genital tract | encyclopedia = MedlinePlus Medical Encyclopedia | access-date = 2018-01-29 }} Vaginal adenosis is the abnormal presence of cervical and uterine tissue within the wall of the vagina.{{cite journal | vauthors = Laronda MM, Unno K, Butler LM, Kurita T | title = The development of cervical and vaginal adenosis as a result of diethylstilbestrol exposure in utero | journal = Differentiation; Research in Biological Diversity | volume = 84 | issue = 3 | pages = 252–60 | date = October 2012 | pmid = 22682699 | doi = 10.1016/j.diff.2012.05.004 | pmc = 3443265 }} Ten percent of women have this condition and remain unsymptomatic. It rarely develops into a malignancy.{{cite journal | vauthors = Kranl C, Zelger B, Kofler H, Heim K, Sepp N, Fritsch P | title = Vulval and vaginal adenosis | journal = The British Journal of Dermatology | volume = 139 | issue = 1 | pages = 128–31 | date = July 1998 | pmid = 9764164 | doi = 10.1046/j.1365-2133.1998.02329.x | s2cid = 37183823 }} Cloacal exstrophy is a condition when two vaginas are present.{{cite encyclopedia | url = https://medlineplus.gov/ency/article/001497.htm | title = Developmental disorders of the female genital tract | encyclopedia = MedlinePlus Medical Encyclopedia | access-date = 2018-01-21 }}{{cite web | url = https://www.urologyhealth.org/urologic-conditions/cloacal-exstrophy | work = Urology Care Foundation | title = What is Cloacal Exstrophy? | access-date = 2018-01-20 }}{{cite journal | vauthors = Biason-Lauber A, De Filippo G, Konrad D, Scarano G, Nazzaro A, Schoenle EJ | title = WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report | journal = Human Reproduction | volume = 22 | issue = 1 | pages = 224–9 | date = January 2007 | pmid = 16959810 | doi = 10.1093/humrep/del360 | doi-access = free }} Vaginal agenesis or the complete absence of the vagina affects 1 out of 5,000 women.{{cite web | url = http://www.urologyhealth.org/urologic-conditions/vaginal-abnormalities-vaginal-agenesis | work = Urology Care Foundation | title = What is Vaginal Agenesis? | access-date = 2018-01-21 }} 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.{{cite journal | vauthors = Jindal G, Kachhawa S, Meena GL, Dhakar G | title = Uterus didelphys with unilateral obstructed hemivagina with hematometrocolpos and hematosalpinx with ipsilateral renal agenesis | journal = Journal of Human Reproductive Sciences | volume = 2 | issue = 2 | pages = 87–9 | date = July 2009 | pmid = 19881156 | pmc = 2800935 | doi = 10.4103/0974-1208.57230 | doi-access = free }} Vaginal hypoplasia is the under-development of the vagina and is found in instances of complete androgen insensitivity syndrome.{{cite web | url = https://www.pennmedicine.org/for-patients-and-visitors/patient-information/conditions-treated-a-to-z/mullerian-anomalies | title = Mullerian Anomalies | work = Penn Medicine | access-date = 2018-01-21 }} Vaginal septa are structures consisting of fibrous tissue that block the vagina.{{cite book | url = https://books.google.com/books?id=QpabASTwF_sC&pg=PA1599|title=Pediatric Surgery E-Book | vauthors = Coran AG, Caldamone A, Adzick N, Krummel T, Laberge J, Shamberger R|date=2012-01-25|publisher=Elsevier Health Sciences | isbn = 978-0-323-09161-9 }} The tissue extends horizontally, blocking or partially blocking the vaginal canal or transversely essentially creating two vaginas that connect to a normal uterus.{{cite journal | vauthors = Heinonen PK | title = Complete septate uterus with longitudinal vaginal septum | journal = Fertility and Sterility | volume = 85 | issue = 3 | pages = 700–5 | date = March 2006 | pmid = 16500341 | doi = 10.1016/j.fertnstert.2005.08.039 | doi-access = free }}{{cite journal | vauthors = Perez-Brayfield MR, Clarke HS, Pattaras JG | title = Complete bladder, urethral, and vaginal duplication in a 50-year-old woman | journal = Urology | volume = 60 | issue = 3 | page = 514 | date = September 2002 | pmid = 12350504 | doi = 10.1016/S0090-4295(02)01808-3 }} Septa can prevent menstrual flow and result in painful intercourse, though some women do not have symptoms.{{cite book | url = https://books.google.com/books?id=7TyVDAAAQBAJ&q=%22vaginal+anomalies%22&pg=PA43 | title = Congenital Müllerian Anomalies: Diagnosis and Management | vauthors = Pfeifer S | date = 2016-06-30 | publisher = Springer | isbn = 978-3-319-27231-3 | page = 3 }} Many vaginal anomalies are not detected at birth because the external genitalia can appear to be normal.

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.

File:Hippocrates treatment for prolapse.png

Notable is the mention of vaginal anomalies and pelvic organ prolapse in older cultures and locations. 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."{{cite journal | vauthors = Lensen EJ, Withagen MI, Kluivers KB, Milani AL, Vierhout ME | s2cid = 11650722 | title = Surgical treatment of pelvic organ prolapse: a historical review with emphasis on the anterior compartment | journal = International Urogynecology Journal | volume = 24 | issue = 10 | pages = 1593–602 | date = October 2013 | pmid = 23494056 | doi = 10.1007/s00192-013-2074-2 }}

Hippocrates also described the prolapse of other organs out through the vagina. 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.

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.{{Cite journal|date=2016-06-01|title=Mullerian Duct Anomalies: Overview, Incidence and Prevalence, Embryology|url=https://emedicine.medscape.com/article/273534-overview#a2}}

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. 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.

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.

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• Genetic counseling
• Genetic diagnosis of intersex
• List of obstetric topics
• Obstetric ultrasonography
• Prenatal testing
• Progestin-induced virilisation

{{colend}}

{{reflist}}

• [https://www.anatomyatlases.org/AnatomicVariants/OrganSystem/Text/Vagina.shtml Vagina, Anatomical Atlases, an Anatomical Digital Library (2018)]

{{Development of the reproductive system}}

Category:Congenital disorders of female genital organs

Category:Vagina

Category:Pediatric gynecology

Category:Syndromes in females

Category:Syndromes affecting female reproductive system

Category:Women's health

Category:Gynaecology

Category:Embryology of urogenital system

Category:Human development

Category:Pathology of pregnancy, childbirth and the puerperium

Category:Theriogenology